{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T03:14:14Z","timestamp":1791342854744,"version":"4.3.1"},"reference-count":167,"publisher":"MDPI AG","issue":"8","license":[{"start":{"date-parts":[[2022,8,9]],"date-time":"2022-08-09T00:00:00Z","timestamp":1660003200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Diagnostics"],"abstract":"<jats:p>Beta-thalassemia (BTH), a recessively inherited haemoglobin (Hb) disorder, causes iron overload (IO), extra-medullary haematopoiesis and bone marrow expansion with major clinical impact. The main objective of this review is to address endocrine components (including aspects of reproductive health as fertility potential and pregnancy outcome) in major beta-thalassemia patients, a complex panel known as thalassemic endocrine disease (TED). We included English, full-text articles based on PubMed research (January 2017\u2013June 2022). TED includes hypogonadism (hypoGn), anomalies of GH\/IGF1 axes with growth retardation, hypothyroidism (hypoT), hypoparathyroidism (hypoPT), glucose profile anomalies, adrenal insufficiency, reduced bone mineral density (BMD), and deterioration of microarchitecture with increased fracture risk (FR). The prevalence of each ED varies with population, criteria of definition, etc. At least one out of every three to four children below the age of 12 y have one ED. ED correlates with ferritin and poor compliance to therapy, but not all studies agree. Up to 86% of the adult population is affected by an ED. Age is a positive linear predictor for ED. Low IGF1 is found in 95% of the population with GH deficiency (GHD), but also in 93.6% of persons without GHD. HypoT is mostly pituitary-related; it is not clinically manifested in the majority of cases, hence the importance of TSH\/FT4 screening. HypoT is found at any age, with the prevalence varying between 8.3% and 30%. Non-compliance to chelation increases the risk of hypoT, yet not all studies confirmed the correlation with chelation history (reversible hypoT under chelation is reported). The pitfalls of TSH interpretation due to hypophyseal IO should be taken into consideration. HypoPT prevalence varies from 6.66% (below the age of 12) to a maximum of 40% (depending on the study). Serum ferritin might act as a stimulator of FGF23. Associated hypocalcaemia transitions from asymptomatic to severe manifestations. HypoPT is mostly found in association with growth retardation and hypoGn. TED-associated adrenal dysfunction is typically mild; an index of suspicion should be considered due to potential life-threatening complications. Periodic check-up by ACTH stimulation test is advised. Adrenal insufficiency\/hypocortisolism status is the rarest ED (but some reported a prevalence of up to one third of patients). Significantly, many studies did not routinely perform a dynamic test. Atypical EM sites might be found in adrenals, mimicking an incidentaloma. Between 7.5\u201310% of children with major BTH have DM; screening starts by the age of 10, and ferritin correlated with glycaemia. Larger studies found DM in up to 34%of cases. Many studies do not take into consideration IGF, IGT, or do not routinely include OGTT. Glucose anomalies are time dependent. Emerging new markers represent promising alternatives, such as insulin secretion-sensitivity index-2. The pitfalls of glucose profile interpretation include the levels of HbA1c and the particular risk of gestational DM. Thalassemia bone disease (TBD) is related to hypoGn-related osteoporosis, renal function anomalies, DM, GHD, malnutrition, chronic hypoxia-induced calcium malabsorption, and transplant-associated protocols. Low BMD was identified in both paediatric and adult population; the prevalence of osteoporosis\/TBD in major BTH patients varies; the highest rate is 40\u201372% depending on age, studied parameters, DXA evaluation and corrections, and screening thoracic\u2013lumbar spine X-ray. Lower TBS and abnormal dynamics of bone turnover markers are reported. The largest cohorts on transfusion-dependent BTH identified the prevalence of hypoGn to be between 44.5% and 82%. Ferritin positively correlates with pubertal delay, and negatively with pituitary volume. Some authors appreciate hypoGn as the most frequent ED below the age of 15. Long-term untreated hypoGn induces a high cardiovascular risk and increased FR. Hormonal replacement therapy is necessary in addition to specific BTH therapy. Infertility underlines TED-related hormonal elements (primary and secondary hypoGn) and IO-induced gonadal toxicity. Males with BTH are at risk of infertility due to germ cell loss. IO induces an excessive amount of free radicals which impair the quality of sperm, iron being a local catalyser of ROS. Adequate chelation might improve fertility issues. Due to the advances in current therapies, the reproductive health of females with major BTH is improving; a low level of statistical significance reflects the pregnancy status in major BTH (limited data on spontaneous pregnancies and growing evidence of the induction of ovulation\/assisted reproductive techniques). Pregnancy outcome also depends on TED approach, including factors such as DM control, adequate replacement of hypoT and hypoPT, and vitamin D supplementation for bone health. Asymptomatic TED elements such as subclinical hypothyroidism or IFG\/IGT might become overt during pregnancy. Endocrine glands are particularly sensitive to iron deposits, hence TED includes a complicated puzzle of EDs which massively impacts on the overall picture, including the quality of life in major BTH. The BTH prognostic has registered progress in the last decades due to modern therapy, but the medical and social burden remains elevated. Genetic counselling represents a major step in approaching TH individuals, including as part of the pre-conception assessment. A multidisciplinary surveillance team is mandatory.<\/jats:p>","DOI":"10.3390\/diagnostics12081921","type":"journal-article","created":{"date-parts":[[2022,8,10]],"date-time":"2022-08-10T02:42:53Z","timestamp":1660099373000},"page":"1921","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":41,"title":["New Entity\u2014Thalassemic Endocrine Disease: Major Beta-Thalassemia and Endocrine Involvement"],"prefix":"10.3390","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8585-3835","authenticated-orcid":false,"given":"Mara","family":"Carsote","sequence":"first","affiliation":[{"name":"Department of Endocrinology, C. Davila University of Medicine and Pharmacy & C.I. Parhon National Institute of Endocrinology, 011684 Bucharest, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cristina","family":"Vasiliu","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynaecology, C. Davila University of Medicine and Pharmacy & University Emergency Hospital, 011684 Bucharest, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandra Ioana","family":"Trandafir","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, C.I. Parhon National Institute of Endocrinology, 011684 Bucharest, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simona Elena","family":"Albu","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynaecology, C. Davila University of Medicine and Pharmacy & University Emergency Hospital, 011684 Bucharest, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mihai-Cristian","family":"Dumitrascu","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynaecology, C. Davila University of Medicine and Pharmacy & University Emergency Hospital, 011684 Bucharest, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adelina","family":"Popa","sequence":"additional","affiliation":[{"name":"Department of Dermatovenerology, C. Davila University of Medicine and Pharmacy & \u201cElias\u201d University Emergency Hospital, 011684 Bucharest, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudia","family":"Mehedintu","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynaecology, C. Davila University of Medicine and Pharmacy & \u201cFilantropia\u201d Clinical Hospital, 011684 Bucharest, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4496-1535","authenticated-orcid":false,"given":"Razvan-Cosmin","family":"Petca","sequence":"additional","affiliation":[{"name":"Department of Urology, C. Davila University of Medicine and Pharmacy & \u201cProf. Dr. Theodor Burghele\u201d Clinical Hospital, 011684 Bucharest, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4890-0978","authenticated-orcid":false,"given":"Aida","family":"Petca","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynaecology, C. Davila University of Medicine and Pharmacy & University Emergency Hospital, 011684 Bucharest, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Florica","family":"Sandru","sequence":"additional","affiliation":[{"name":"Department of Dermatovenerology, C. Davila University of Medicine and Pharmacy & \u201cElias\u201d University Emergency Hospital, 011684 Bucharest, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2022,8,9]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"692","DOI":"10.1111\/ejh.13512","article-title":"Changing patterns in the epidemiology of \u03b2-thalassemia","volume":"105","author":"Kattamis","year":"2020","journal-title":"Eur. J. Haematol."},{"key":"ref_2","first-page":"272","article-title":"Alpha- and Beta-thalassemia: Rapid Evidence Review","volume":"105","author":"Baird","year":"2022","journal-title":"Am. Fam. Physician"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"e1788","DOI":"10.1002\/mgg3.1788","article-title":"Current status of beta-thalassemia and its treatment strategies","volume":"9","author":"Ali","year":"2021","journal-title":"Mol. Genet. Genom. Med."},{"key":"ref_4","first-page":"207","article-title":"Efficacy and Tolerability of Oral Iron Chelator, Deferasirox","volume":"33","author":"Tahir","year":"2021","journal-title":"J. Ayub Med. Coll. Abbottabad"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"e754","DOI":"10.1097\/MPH.0000000000002219","article-title":"Evaluation of Self-efficacy in Children and Adolescents with Thalassemia Major","volume":"43","author":"Baghersalimi","year":"2021","journal-title":"J. Pediatr. Hematol. Oncol."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"1460458221989397","DOI":"10.1177\/1460458221989397","article-title":"Web-based expert system with quick response code for beta-thalassemia management","volume":"27","author":"Banjar","year":"2021","journal-title":"Health Inform. J."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"48","DOI":"10.3892\/br.2020.1355","article-title":"Novel genetic therapeutic approaches for modulating the severity of \u03b2-thalassemia (Review)","volume":"13","author":"Amjad","year":"2020","journal-title":"Biomed. Rep."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"172","DOI":"10.4103\/ijp.IJP_68_18","article-title":"Effectiveness of Deferasirox in Pediatric Thalassemia Patients: Experience from a Tertiary Care Hospital of Odisha","volume":"52","author":"Panigrahi","year":"2020","journal-title":"Indian J. Pharmacol."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"2265","DOI":"10.1007\/s00277-020-04213-0","article-title":"Phenotypical and functional abnormalities of circulating neutrophils in patients with \u03b2-thalassemia","volume":"99","author":"Buttari","year":"2020","journal-title":"Ann. Hematol."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"e2020029","DOI":"10.4084\/mjhid.2020.029","article-title":"Cost-Utility Analysis of four Chelation Regimens for \u03b2-thalassemia Major: A Chinese Perspective.Mediterr","volume":"12","author":"Li","year":"2020","journal-title":"J. Hematol. Infect. Dis."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"2156","DOI":"10.12688\/f1000research.12688.1","article-title":"Pathophysiology and treatment of patients with beta-thalassemia\u2014An update","volume":"6","author":"Fibach","year":"2017","journal-title":"F1000Research"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"322","DOI":"10.1016\/j.clinthera.2019.12.003","article-title":"Systematic Literature Review of the Burden of Disease and Treatment for Transfusion-dependent \u03b2-Thalassemia","volume":"42","author":"Betts","year":"2020","journal-title":"Clin. Ther."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1111\/tme.12539","article-title":"Pulmonary functions in Egyptian children with transfusion-dependent \u03b2-thalassemia","volume":"29","author":"Mousa","year":"2019","journal-title":"Transfus. Med."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"487","DOI":"10.1136\/archdischild-2018-315743","article-title":"Establishment of a thalassaemia major quality improvement collaborative in Pakistan","volume":"105","author":"Hoodbhoy","year":"2020","journal-title":"Arch. Dis. Child."},{"key":"ref_15","first-page":"e6293","article-title":"An Unusual Presentation of a Patient with Leg Ulcers: A Case Report","volume":"11","author":"Zafar","year":"2019","journal-title":"Cureus"},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"730873","DOI":"10.3389\/fphar.2021.730873","article-title":"The Future of Gene Therapy for Transfusion-Dependent Beta-Thalassemia: The Power of the Lentiviral Vector for Genetically Modified Hematopoietic Stem Cells","volume":"12","author":"Rattananon","year":"2021","journal-title":"Front. Pharmacol."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"2906","DOI":"10.1111\/trf.16636","article-title":"Relationship between transfusion burden, healthcare resource utilization, and complications in patients with beta-thalassemia in Taiwan: A real-world analysis","volume":"61","author":"Tang","year":"2021","journal-title":"Transfusion"},{"key":"ref_18","first-page":"CD012349","article-title":"Interventions for improving adherence to iron chelation therapy in people with sickle cell disease or thalassaemia","volume":"5","author":"Fortin","year":"2018","journal-title":"Cochrane Database Syst. Rev."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"592","DOI":"10.1182\/hematology.2021000295","article-title":"Advances in the management of \u03b1-thalassemia major: Reasons to be optimistic","volume":"2021","author":"Horvei","year":"2021","journal-title":"Hematol. Am. Soc. Hematol. Educ. Program"},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"1439","DOI":"10.1007\/s40618-022-01780-z","article-title":"GH\/IGF-1 axis in a large cohort of \u00df-thalassemia major adult patients: A cross-sectional study","volume":"45","author":"Gagliardi","year":"2022","journal-title":"J. Endocrinol. Invest."},{"key":"ref_21","first-page":"799","article-title":"High prevalence of central hypothyroidism among patients with transfusion dependent thalassemia in Hospital Pulau Pinang: A cross sectional study","volume":"76","author":"Seow","year":"2021","journal-title":"Med. J. Malaysia"},{"key":"ref_22","doi-asserted-by":"crossref","unstructured":"Dixit, N., Shaw, C.K., Varshney, G.A., Kumar, R., Saini, P.A., and Verma, P. (2021). Endocrinal Complications in Children and Adolescents with Thalassemia Major in Central India: An Observational Study. Indian J. Pediatr.","DOI":"10.1007\/s12098-021-03883-6"},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"749","DOI":"10.2147\/JBM.S325096","article-title":"The Correlation Between Iron Overload and Endocrine Function in Adult Transfusion-Dependent Beta-Thalassemia Patients with Growth Retardation","volume":"12","author":"Atmakusuma","year":"2021","journal-title":"J. Blood Med."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1186\/s13052-021-01116-2","article-title":"Detection of endocrine disorders in young children with multi-transfused thalassemia major","volume":"47","author":"Mahmoud","year":"2021","journal-title":"Ital. J. Pediatr."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"48","DOI":"10.5334\/aogh.3184","article-title":"A Systematic Review and Meta-Analysis of Stature Growth Complications in \u03b2-thalassemia Major Patients","volume":"87","author":"Kheyrandish","year":"2021","journal-title":"Ann. Glob. Health."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"635","DOI":"10.1007\/s13312-021-2258-7","article-title":"Pubertal Development and its Determinants in Adolescents with Transfusion-Dependent Thalassemia","volume":"58","author":"Singh","year":"2021","journal-title":"Indian Pediatr."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"656","DOI":"10.1007\/s12098-020-03629-w","article-title":"Pituitary Volume and Iron Overload Evaluation by 3T MRI in Thalassemia","volume":"88","author":"Nayak","year":"2021","journal-title":"Indian J. Pediatr."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"467","DOI":"10.3324\/haematol.2020.272419","article-title":"Risk factors for endocrine complications in transfusion-dependent thalassemia patients on chelation therapy with deferasirox: A risk assessment study from a multi-center nation-wide cohort","volume":"107","author":"Casale","year":"2022","journal-title":"Haematologica"},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"897","DOI":"10.1111\/bjh.17091","article-title":"Co-morbidities and mortality associated with transfusion-dependent beta-thalassaemia in patients in England: A 10-year retrospective cohort analysis","volume":"191","author":"Jobanputra","year":"2020","journal-title":"Br. J. Haematol."},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"344","DOI":"10.1080\/03630269.2020.1812636","article-title":"Pituitary Iron Deposition and Endocrine Complications in Patients with \u03b2-Thalassemia: From Childhood to Adulthood","volume":"44","author":"Karadag","year":"2020","journal-title":"Hemoglobin"},{"key":"ref_31","first-page":"33","article-title":"Prevalence of endocrine complications in transfusion dependent thalassemia in Hospital Pulau Pinang: A pilot study","volume":"75","author":"Lee","year":"2020","journal-title":"Med. J. Malaysia"},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"218","DOI":"10.1080\/03630269.2019.1639517","article-title":"Compliance with Deferoxamine Therapy and Thyroid Dysfunction of Patients with \u03b2-Thalassemia Major in Syria","volume":"43","author":"Yassouf","year":"2019","journal-title":"Hemoglobin"},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"1467","DOI":"10.1007\/s40618-019-01072-z","article-title":"Prevalence of endocrine disorders and their associated factors in transfusion-dependent thalassemia patients: A historical cohort study in Southern Iran","volume":"42","author":"Bordbar","year":"2019","journal-title":"J. Endocrinol. Investig."},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"6573497","DOI":"10.1155\/2019\/6573497","article-title":"Elevated Prevalence of Abnormal Glucose Metabolism and Other Endocrine Disorders in Patients with \u03b2-Thalassemia Major: A Meta-Analysis","volume":"2019","author":"He","year":"2019","journal-title":"Biomed. Res. Int."},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"515","DOI":"10.1097\/MPH.0000000000001489","article-title":"The Cutoff of Ferritin for Evaluation of Hypothyroidism in Patients with Thalassemia","volume":"41","author":"Baghersalimi","year":"2019","journal-title":"J. Pediatr. Hematol. Oncol."},{"key":"ref_36","first-page":"481","article-title":"An ICET-A survey on occult and emerging endocrine complications in patients with \u03b2-thalassemia major: Conclusions and recommendations","volume":"89","author":"Soliman","year":"2019","journal-title":"Acta Biomed."},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"9071213","DOI":"10.1155\/2018\/9071213","article-title":"Thyroid Function in Chronically Transfused Children with BetaThalassemia Major: A Cross-Sectional Hospital Based Study","volume":"2018","author":"Upadya","year":"2018","journal-title":"Int. J. Pediatr."},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"e27285","DOI":"10.1002\/pbc.27285","article-title":"Clinical utility of endocrine markers predicting myocardial siderosis in transfusion dependent thalassemia major.Pediatr","volume":"65","author":"Ehsan","year":"2018","journal-title":"Blood Cancer"},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"348","DOI":"10.1007\/s12020-018-1562-z","article-title":"Low-dose Synachten test with measurement of salivary cortisol in adult patients with \u03b2-thalassemia major","volume":"60","author":"Ambrogio","year":"2018","journal-title":"Endocrine"},{"key":"ref_40","first-page":"435","article-title":"An ICET- A survey on Hypoparathyroidism in Patients with Thalassaemia Major and Intermedia: A preliminary report","volume":"88","author":"Soliman","year":"2018","journal-title":"Acta Biomed."},{"key":"ref_41","first-page":"268","article-title":"Complications of Transfusion-Dependent \u03b2-Thalassemia Patients in Sistan and Baluchistan, South-East of Iran","volume":"11","author":"Yaghobi","year":"2017","journal-title":"Int. J. Hematol. Oncol. Stem Cell Res."},{"key":"ref_42","doi-asserted-by":"crossref","unstructured":"Meloni, A., Pistoia, L., Ricchi, P., Putti, M.C., Gamberini, M.R., Cuccia, L., Messina, G., Massei, F., Facchini, E., and Righi, R. (2022). Link between Genotype and Multi-Organ Iron and Complications in Children with Transfusion-Dependent Thalassemia. J. Pers. Med., 12.","DOI":"10.3390\/jpm12030400"},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1007\/978-3-030-78787-5_10","article-title":"Genotypic and Clinical Analysis of a Thalassemia Major Cohort: An Observational Study","volume":"1339","author":"Lambrou","year":"2021","journal-title":"Adv. Exp. Med. Biol."},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1080\/03630269.2020.1783287","article-title":"Necrobiosis Lipoidica in a Patient with \u03b2-Thalassemia Major: A Case Report and Review of the Literature","volume":"44","author":"Vetsiou","year":"2020","journal-title":"Hemoglobin"},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"2147","DOI":"10.2174\/1871530321666210421123759","article-title":"The Quality of Life of Thalassemic Patients: The Role of Endocrine Defect Compensation","volume":"21","author":"Mattia","year":"2021","journal-title":"Endocr. Metab. Immune Disord. Drug Targets"},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"455","DOI":"10.1080\/08880018.2020.1734124","article-title":"The effect of deferasirox on endocrine complications in children with thalassemia","volume":"37","author":"Bilgin","year":"2020","journal-title":"Pediatr. Hematol. Oncol."},{"key":"ref_47","first-page":"CD012284","article-title":"Growth hormone therapy for people with thalassaemia","volume":"5","author":"Ngim","year":"2020","journal-title":"Cochrane Database Syst. Rev."},{"key":"ref_48","first-page":"101","article-title":"Growth and Growthhormone\u2014Insulin Like Growth Factor -I (GH-IGF-I) Axis in Chronic Anemias","volume":"88","author":"Soliman","year":"2017","journal-title":"Acta Biomed."},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"e2018062","DOI":"10.4084\/mjhid.2018.062","article-title":"Severe Liver Iron Concentrations (LIC) in 24 Patients with \u03b2-Thalassemia Major: Correlations with Serum Ferritin, Liver Enzymes and Endocrine Complications.Mediterr","volume":"10","author":"Kanbour","year":"2018","journal-title":"J. Hematol. Infect. Dis."},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"e2019026","DOI":"10.4084\/mjhid.2019.026","article-title":"Final Height and Endocrine Complications in Patients with \u03b2-Thalassemia Intermedia: Our Experience in Non-Transfused Versus Infrequently Transfused Patients and Correlations with Liver Iron Content.Mediterr","volume":"11","author":"Yassin","year":"2019","journal-title":"J. Hematol. Infect. Dis."},{"key":"ref_51","first-page":"4655249","article-title":"Association of Beta-Thalassaemia and Hypogonadotropic Hypogonadism","volume":"2022","author":"Vidal","year":"2022","journal-title":"Case Rep. Obstet. Gynecol."},{"key":"ref_52","first-page":"e15572","article-title":"Investigating the Role of Ferritin in Determining Sexual Underdevelopment in Beta-Thalassemia Major Patients: A Cross-Sectional Analysis From Pakistan","volume":"13","author":"Shahid","year":"2021","journal-title":"Cureus"},{"key":"ref_53","doi-asserted-by":"crossref","unstructured":"Barbero, U., Ajassa, M., Gaglioti, C.M., Piga, A., Ferrero, G.B., and Longo, F. (2021). The Influence of Cardiovascular Risk Factors and Hypogonadism on Cardiac Outcomes in an Aging Population of Beta-Thalassemia Patients. J. Cardiovasc. Dev. Dis., 9.","DOI":"10.3390\/jcdd9010003"},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"e2019029","DOI":"10.4084\/mjhid.2019.029","article-title":"Thyroid Disorders in Homozygous \u03b2-Thalassemia: Current Knowledge, Emerging Issues and Open Problems","volume":"11","author":"Soliman","year":"2019","journal-title":"Mediterr. J. Hematol. Infect. Dis."},{"key":"ref_55","doi-asserted-by":"crossref","unstructured":"Sriwichakorn, C., Nakavachara, P., Jitpirasakun, S., Pooliam, J., and Sanpakit, K. (2022). Hypothyroidism in children with Hb E\/\u03b2-thalassemia compared between those who received regular transfusion and those who underwent hematopoietic stem cell transplantation. Pediatr. Hematol. Oncol., 1\u201313.","DOI":"10.1080\/08880018.2022.2067605"},{"key":"ref_56","first-page":"224","article-title":"Detection of thyroid nodules by routine ultrasound","volume":"12","author":"Ghemigian","year":"2017","journal-title":"Pract. Med."},{"key":"ref_57","doi-asserted-by":"crossref","first-page":"e2018031","DOI":"10.4084\/mjhid.2018.031","article-title":"Growth and Endocrine Function in Tunisian Thalassemia Major Patients.Mediterr","volume":"10","author":"Dhouib","year":"2018","journal-title":"J. Hematol. Infect. Dis."},{"key":"ref_58","doi-asserted-by":"crossref","unstructured":"Saki, F., Salehifar, A., Kassaee, S.R., and Omrani, G.R. (2020). Association of vitamin D and FGF23 with serum ferritin in hypoparathyroid thalassemia: A case control study. BMC Nephrol., 21.","DOI":"10.1186\/s12882-020-02101-3"},{"key":"ref_59","doi-asserted-by":"crossref","first-page":"194","DOI":"10.1055\/a-1104-5326","article-title":"Fibroblast Growth Factor 23 (FGF23) and Klotho Protein in Beta-Thalassemia","volume":"52","author":"Stefanopoulos","year":"2020","journal-title":"Horm. Metab. Res."},{"key":"ref_60","doi-asserted-by":"crossref","first-page":"e238916","DOI":"10.1136\/bcr-2020-238916","article-title":"Extramedullary haematopoiesis in the adrenal glands","volume":"13","author":"Kurian","year":"2020","journal-title":"BMJ Case Rep."},{"key":"ref_61","doi-asserted-by":"crossref","first-page":"e238572","DOI":"10.1136\/bcr-2020-238572","article-title":"Adrenal extramedullary haematopoiesis: An unusual incidentaloma","volume":"14","author":"Agarwal","year":"2021","journal-title":"BMJ Case Rep."},{"key":"ref_62","unstructured":"Georgiou, A.C., Lisacek-Kiosoglous, A.B., Mariannis, D., Christou, S., and Hadjianastassiou, V.G. (2022). A rare case of adrenal extramedullary haematopoiesis in a Cypriot woman with \u03b2-thalassaemia. Ann. R. Coll. Surg. Engl."},{"key":"ref_63","first-page":"e2021488","article-title":"The clinical characteristics, biochemical parameters and insulin response to oral glucose tolerance test (OGTT) in 25 transfusion dependent \u03b2-thalassemia (TDT) patients recently diagnosed with diabetes mellitus (DM)","volume":"92","author":"Soliman","year":"2022","journal-title":"Acta Biomed."},{"key":"ref_64","doi-asserted-by":"crossref","first-page":"767","DOI":"10.1007\/s40200-020-00560-x","article-title":"The effects of iron overload, insulin resistance and oxidative stress on metabolic disorders in patients with \u03b2-thalassemiamajor","volume":"19","author":"Setoodeh","year":"2020","journal-title":"J. Diabetes Metab. Disord."},{"key":"ref_65","doi-asserted-by":"crossref","first-page":"1","DOI":"10.4274\/jcrpe.4774","article-title":"Acute Effects of Blood Transfusion on Insulin Sensitivity and Pancreatic \u03b2-Cell Function in Children with \u03b2-Thalassemia\/Hemoglobin E Disease","volume":"10","author":"Wankanit","year":"2018","journal-title":"J. Clin. Res. Pediatr. Endocrinol."},{"key":"ref_66","doi-asserted-by":"crossref","first-page":"56","DOI":"10.1097\/MPH.0000000000001043","article-title":"Glucose Homeostasis and Effect of Chelation on \u03b2 Cell Function in Children With \u03b2-ThalassemiaMajor","volume":"40","author":"Gomber","year":"2018","journal-title":"J. Pediatr. Hematol. Oncol."},{"key":"ref_67","doi-asserted-by":"crossref","first-page":"2830","DOI":"10.2337\/dc20-0908","article-title":"The Close Link of Pancreatic Iron With Glucose Metabolism and With Cardiac Complications in ThalassemiaMajor: A Large, Multicenter Observational Study","volume":"43","author":"Pepe","year":"2020","journal-title":"Diabetes Care"},{"key":"ref_68","doi-asserted-by":"crossref","first-page":"128","DOI":"10.1097\/MPH.0000000000001011","article-title":"Study of Insulin Resistance in Patients With \u03b2ThalassemiaMajor and Validity of Triglyceride Glucose (TYG) Index","volume":"40","author":"Ansari","year":"2018","journal-title":"J. Pediatr. Hematol. Oncol."},{"key":"ref_69","doi-asserted-by":"crossref","first-page":"209","DOI":"10.29252\/rbmb.9.2.209","article-title":"Evaluation of Adipokines Concentration in Iraqi Patients with Major and Minor BetaThalassemia","volume":"9","author":"Harbi","year":"2020","journal-title":"Rep. Biochem. Mol. Biol."},{"key":"ref_70","doi-asserted-by":"crossref","first-page":"e2021021","DOI":"10.4084\/mjhid.2021.021","article-title":"Long-Term Follow-up of \u03b2-Transfusion-Dependent Thalassemia (TDT) Normoglycemic Patients with Reduced Insulin Secretion to Oral Glucose Tolerance Test (OGTT): A Pilot Study","volume":"13","author":"Soliman","year":"2021","journal-title":"Mediterr. J. Hematol. Infect. Dis."},{"key":"ref_71","doi-asserted-by":"crossref","first-page":"1093","DOI":"10.1507\/endocrj.EJ19-0191","article-title":"Insulin secretion-sensitivity index-2 could be a novel marker in the identification of the role of pancreatic iron deposition on beta-cell function in thalassemia major","volume":"66","author":"Karadas","year":"2019","journal-title":"Endocr. J."},{"key":"ref_72","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1111\/pedi.12793","article-title":"Evaluation of continuous glucose monitoring system for detection of alterations in glucose homeostasis in pediatric patients with \u03b2-thalassemia major","volume":"20","author":"Tantawy","year":"2019","journal-title":"Pediatr. Diabetes."},{"key":"ref_73","first-page":"e2022158","article-title":"Screening for glucose dysregulation in \u03b2-thalassemiamajor (\u03b2-TM): An update of current evidences and personal experience","volume":"93","author":"Daar","year":"2022","journal-title":"Acta Biomed."},{"key":"ref_74","doi-asserted-by":"crossref","first-page":"562","DOI":"10.1111\/pedi.13260","article-title":"Indicators of glucose dysregulation and the relationship with iron overload in Chinese children with beta thalassemia major","volume":"23","author":"Zhang","year":"2021","journal-title":"Pediatr. Diabetes"},{"key":"ref_75","doi-asserted-by":"crossref","first-page":"508","DOI":"10.1097\/MPH.0000000000001161","article-title":"Glucose Homeostasis Markers in Beta-Thalassemia","volume":"40","author":"Gomber","year":"2018","journal-title":"J. Pediatr. Hematol. Oncol."},{"key":"ref_76","doi-asserted-by":"crossref","first-page":"1031","DOI":"10.1007\/s00198-021-05821-w","article-title":"Vitamin D and bone health status in betathalassemia patients-systematic review","volume":"32","author":"Manolopoulos","year":"2021","journal-title":"Osteoporos. Int."},{"key":"ref_77","doi-asserted-by":"crossref","first-page":"13","DOI":"10.22540\/JFSF-03-013","article-title":"A contemporary therapeutic approach to bone disease in beta-thalassemia\u2014A review","volume":"3","author":"Stefanopoulos","year":"2018","journal-title":"J. FrailtySarcopenia Falls"},{"key":"ref_78","doi-asserted-by":"crossref","first-page":"110","DOI":"10.4274\/jcrpe.galenos.2018.2018.0074","article-title":"Pathogenesis of Thalassemia Major-associated Osteoporosis: A Review with Insights from Clinical Experience","volume":"11","author":"Gaudio","year":"2019","journal-title":"J. Clin. Res. Pediatr. Endocrinol."},{"key":"ref_79","doi-asserted-by":"crossref","first-page":"827","DOI":"10.2147\/JBM.S328547","article-title":"Correlation of Transferrin Saturation and Serum Ferritin with Bone Mass Density in Adult Transfusion Dependent Beta-Thalassemia Patients","volume":"12","author":"Atmakusuma","year":"2021","journal-title":"J. Blood Med."},{"key":"ref_80","doi-asserted-by":"crossref","first-page":"381","DOI":"10.1097\/MPH.0000000000001733","article-title":"An Evaluation of Bone Health Parameters in Regularly Transfused Beta-Thalassemia Major Patients","volume":"42","author":"Kothimira","year":"2020","journal-title":"J. Pediatr. Hematol. Oncol."},{"key":"ref_81","doi-asserted-by":"crossref","unstructured":"Wanna-Udom, S., Luesiripong, C., Sakunrangsit, N., Metheepakornchai, P., Intharamonthian, S., Svasti, S., Greenblatt, M.B., Leelahavanichkul, A., and Lotinun, S. (2022). High phosphate intake induces bone loss in nephrectomized thalassemic mice. PLoS ONE, 17.","DOI":"10.1371\/journal.pone.0268732"},{"key":"ref_82","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1007\/s11657-021-01026-0","article-title":"Fracture prevalence in thalassemia: A systematic review and meta-analysis","volume":"16","author":"Charoenngam","year":"2021","journal-title":"Arch. Osteoporos."},{"key":"ref_83","doi-asserted-by":"crossref","first-page":"383","DOI":"10.1016\/j.jocd.2020.08.001","article-title":"Assessment of Bone Density by DXA in Poorly Controlled Children With \u03b2-Thalassemia: Correction for Hepatic Iron Overload by Manual Analysis","volume":"24","author":"Ekbote","year":"2021","journal-title":"J. Clin. Densitom."},{"key":"ref_84","doi-asserted-by":"crossref","first-page":"469","DOI":"10.1007\/s12020-019-02003-x","article-title":"Dual-energy X-ray absorptiometry pitfalls in Thalassemia Major","volume":"65","author":"Pellegrino","year":"2019","journal-title":"Endocrine"},{"key":"ref_85","doi-asserted-by":"crossref","first-page":"e1015","DOI":"10.1210\/clinem\/dgz309","article-title":"Iron Overload Associated Endocrine Dysfunction Leading to Lower Bone Mineral Density in Thalassemia Major","volume":"105","author":"Yang","year":"2020","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"ref_86","doi-asserted-by":"crossref","first-page":"246","DOI":"10.23736\/S0026-4946.16.04200-6","article-title":"Correlation between criteria of diagnosis of low bone mineral density in adult and pediatric thalassemic patients: A prospective study","volume":"70","author":"Mohseni","year":"2018","journal-title":"Minerva Pediatr."},{"key":"ref_87","first-page":"431","article-title":"The role of using different reference population in the prevalence of low BMD in the thalassemia patients","volume":"19","author":"Darvishian","year":"2019","journal-title":"J. Diabetes Metab. Disord."},{"key":"ref_88","doi-asserted-by":"crossref","first-page":"220","DOI":"10.1007\/s12020-019-02159-6","article-title":"Evaluation of endocrine complications in beta-thalassemia intermedia (\u03b2-TI): A cross-sectional multicenter study","volume":"69","author":"Karimi","year":"2020","journal-title":"Endocrine"},{"key":"ref_89","doi-asserted-by":"crossref","first-page":"4634709","DOI":"10.1155\/2020\/4634709","article-title":"The TrabecularBoneScore as a Predictor for Thalassemia-Induced Vertebral Fractures in Northeastern Thailand","volume":"2020","author":"Teawtrakul","year":"2020","journal-title":"Anemia"},{"key":"ref_90","doi-asserted-by":"crossref","first-page":"507","DOI":"10.1016\/j.jocd.2017.06.028","article-title":"Dual-Energy X-ray Absorptiometry Predictors of Vertebral Deformities in Beta-Thalassemia Major","volume":"21","author":"Osella","year":"2018","journal-title":"J. Clin. Densitom."},{"key":"ref_91","doi-asserted-by":"crossref","first-page":"449","DOI":"10.25122\/jml-2019-0131","article-title":"Glucocorticoids and Trabecular Bone Score","volume":"13","author":"Sandru","year":"2020","journal-title":"J. Med. Life."},{"key":"ref_92","doi-asserted-by":"crossref","first-page":"100594","DOI":"10.1016\/j.blre.2019.100594","article-title":"Management of the aging beta-thalassemia transfusion-dependent population\u2014The Italian experience","volume":"38","author":"Pinto","year":"2019","journal-title":"Blood Rev."},{"key":"ref_93","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1080\/17474086.2020.1686354","article-title":"Management of age-associated medical complications in patients with \u03b2-thalassemia","volume":"13","author":"Motta","year":"2020","journal-title":"Exp. Rev. Hematol."},{"key":"ref_94","doi-asserted-by":"crossref","first-page":"115649","DOI":"10.1016\/j.bone.2020.115649","article-title":"Increased prevalence of fractures in inadequately transfused and chelated Indian children and young adults with betathalassemia major","volume":"143","author":"Ekbote","year":"2021","journal-title":"Bone"},{"key":"ref_95","doi-asserted-by":"crossref","first-page":"115730","DOI":"10.1016\/j.bone.2020.115730","article-title":"DXA and pQCT derived parameters in Indian children with betathalassemia major\u2014A case controlled study","volume":"143","author":"Shah","year":"2021","journal-title":"Bone"},{"key":"ref_96","doi-asserted-by":"crossref","first-page":"414","DOI":"10.23736\/S2724-5276.16.04553-9","article-title":"Relationship between endocrine changes and bone markers in pediatric thalassemic patients after hematopoietic stem cell transplantation","volume":"73","author":"Hamidieh","year":"2021","journal-title":"Minerva Pediatr."},{"key":"ref_97","doi-asserted-by":"crossref","first-page":"335","DOI":"10.2174\/1566524019666190314114447","article-title":"Bone Metabolism Markers in Thalassemia Major-Induced Osteoporosis: Results from a Cross-Sectional Observational Study","volume":"19","author":"Tsartsalis","year":"2019","journal-title":"Curr. Mol. Med."},{"key":"ref_98","doi-asserted-by":"crossref","first-page":"94","DOI":"10.1080\/07853890.2020.1744708","article-title":"Associations of serum sclerostin with bone mineral density, markers of bone metabolism and thalassaemia characteristics in adult patients with transfusion-dependent beta-thalassaemia","volume":"52","author":"Sapunarova","year":"2020","journal-title":"Ann. Med."},{"key":"ref_99","doi-asserted-by":"crossref","first-page":"e29377","DOI":"10.1002\/pbc.29377","article-title":"Bone health in pediatric transfusion-dependent beta-thalassemia: Circulating osteoprotegerin and RANKL system","volume":"69","author":"Youssry","year":"2022","journal-title":"Pediatr. Blood Cancer"},{"key":"ref_100","doi-asserted-by":"crossref","unstructured":"Alfaqih, M.A., Bashir, N., Saadeh, R., Khader, Y., Barqawi, M., and Alqudah, S. (2018). Dysregulation of the RANKL\/RANK\/OPG axis in thalassemia intermedia patients. BMC Res. Notes, 11.","DOI":"10.1186\/s13104-018-3616-y"},{"key":"ref_101","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1016\/j.pedneo.2016.08.012","article-title":"Age-related changes in biochemical bone profile in thalassemic children","volume":"59","author":"Zolaly","year":"2018","journal-title":"Pediatr. Neonatol."},{"key":"ref_102","doi-asserted-by":"crossref","first-page":"e83","DOI":"10.1097\/MPH.0000000000001261","article-title":"Hepatic Hemosiderosis Contributes to Abnormal Vitamin D-PTH Axis in Thalassemia Major","volume":"41","author":"Bajoria","year":"2019","journal-title":"J. Pediatr. Hematol. Oncol."},{"key":"ref_103","doi-asserted-by":"crossref","first-page":"254","DOI":"10.1080\/03630269.2017.1403927","article-title":"Pseudoxanthoma Elasticum-Like in \u03b2-Thalassemia Major, a matter of \u03b1-Klotho and ParathyroidHormone?","volume":"41","author":"Baldan","year":"2017","journal-title":"Hemoglobin"},{"key":"ref_104","doi-asserted-by":"crossref","first-page":"1021","DOI":"10.1016\/j.dib.2018.05.120","article-title":"Measurement bone mineral density (BMD) of patients with betathalassemia","volume":"19","author":"Abbasi","year":"2018","journal-title":"Data Brief"},{"key":"ref_105","doi-asserted-by":"crossref","first-page":"648","DOI":"10.1007\/s12288-018-0953-x","article-title":"Zoledronic Acid for Treatment of Low Bone Mineral Density in Patients with BetaThalassemia Major","volume":"34","author":"Naithani","year":"2018","journal-title":"Indian J. Hematol. Blood Transfus."},{"key":"ref_106","doi-asserted-by":"crossref","first-page":"318","DOI":"10.1080\/16078454.2019.1570617","article-title":"Denosumab effects on serum levels of the bone morphogenetic proteins antagonist noggin in patients with transfusion-dependent thalassemia and osteoporosis","volume":"24","author":"Voskaridou","year":"2019","journal-title":"Hematology"},{"key":"ref_107","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1007\/s42000-018-0019-3","article-title":"The role of biphosphonates in the management of thalassemia-induced osteoporosis: A systematic review and meta-analysis","volume":"17","author":"Tsartsalis","year":"2018","journal-title":"Hormones"},{"key":"ref_108","doi-asserted-by":"crossref","first-page":"997","DOI":"10.1080\/17474086.2019.1662721","article-title":"Effect of different iron chelation regimens on bone mass in transfusion-dependent thalassemia patients","volume":"12","author":"Bordbar","year":"2019","journal-title":"Exp. Rev. Hematol."},{"key":"ref_109","doi-asserted-by":"crossref","first-page":"56","DOI":"10.1007\/s00223-022-00963-3","article-title":"Efficacy and Safety of Teriparatide in Beta-Thalassemia Major Associated Osteoporosis: A Real-Life Experience","volume":"111","author":"Gagliardi","year":"2022","journal-title":"Calcif. Tissue Int."},{"key":"ref_110","doi-asserted-by":"crossref","first-page":"1749","DOI":"10.1007\/s00256-021-03732-9","article-title":"Musculoskeletal imaging manifestations of beta-thalassemia","volume":"50","author":"Hajimoradi","year":"2021","journal-title":"Skeletal Radiol."},{"key":"ref_111","doi-asserted-by":"crossref","first-page":"e243421","DOI":"10.1136\/bcr-2021-243421","article-title":"Cyclical haematological changes in a case of hypopituitarism","volume":"14","author":"Nema","year":"2021","journal-title":"BMJ Case Rep."},{"key":"ref_112","doi-asserted-by":"crossref","first-page":"102058","DOI":"10.1016\/j.nicl.2019.102058","article-title":"Brain iron content in systemic iron overload: A beta-thalassemia quantitative MRI study","volume":"24","author":"Manara","year":"2019","journal-title":"Neuroimage Clin."},{"key":"ref_113","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1007\/s10238-021-00735-7","article-title":"Pancreatic MR imaging and endocrine complications in patients with beta-thalassemia: A single-center experience","volume":"22","author":"Sevimli","year":"2022","journal-title":"Clin. Exp. Med."},{"key":"ref_114","doi-asserted-by":"crossref","first-page":"392","DOI":"10.1148\/rg.2018170079","article-title":"Liver Iron Quantification with MR Imaging: A Primer for Radiologists","volume":"38","author":"Labranche","year":"2018","journal-title":"Radiographics"},{"key":"ref_115","first-page":"33","article-title":"Statural Growth and Prevalence of Endocrinopathies in Relation to Liver Iron Content (LIC) in Adult Patients with BetaThalassemia Major (BTM) and Sickle Cell Disease (SCD)","volume":"89","author":"Yassin","year":"2018","journal-title":"Acta Biomed."},{"key":"ref_116","first-page":"27","article-title":"Final adult height and endocrine complications in young adults with \u03b2-thalassemia major (TM) who received oral iron chelation (OIC) in comparison with those who did not use OIC","volume":"89","author":"Soliman","year":"2018","journal-title":"Acta Biomed."},{"key":"ref_117","doi-asserted-by":"crossref","first-page":"180","DOI":"10.1080\/03630269.2021.1941080","article-title":"An Autopsy Case of \u03b2-Thalassemia Major Illuminating the Pathological Spectrum of the Disease","volume":"45","author":"Sood","year":"2021","journal-title":"Hemoglobin"},{"key":"ref_118","doi-asserted-by":"crossref","first-page":"1095","DOI":"10.1080\/17474086.2017.1398080","article-title":"Gonadal dysfunction in adult male patients with thalassemia major: An update for clinicians caring for thalassemia","volume":"10","author":"Soliman","year":"2017","journal-title":"Expert Rev. Hematol."},{"key":"ref_119","doi-asserted-by":"crossref","first-page":"e246062","DOI":"10.1590\/1519-6984.246062","article-title":"Thalassemia, a human blood disorder","volume":"83","author":"Shafique","year":"2021","journal-title":"Braz. J. Biol."},{"key":"ref_120","first-page":"82","article-title":"Insights of peak bone mass","volume":"21","author":"Carsote","year":"2016","journal-title":"ActaMed. Transilv."},{"key":"ref_121","doi-asserted-by":"crossref","first-page":"732","DOI":"10.1177\/0284185117730099","article-title":"MRI assessment of pituitary iron accumulation by using pituitary-R2 in \u03b2-thalassemia patients","volume":"59","year":"2018","journal-title":"Acta Radiol."},{"key":"ref_122","doi-asserted-by":"crossref","first-page":"38","DOI":"10.1016\/j.ejogrb.2019.04.046","article-title":"A 10-year longitudinal study of evaluation of ovarian reserve in women with transfusion-dependent beta thalassaemia major","volume":"238","author":"Talaulikar","year":"2019","journal-title":"Eur. J. Obstet. Gynecol. Reprod. Biol."},{"key":"ref_123","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1016\/j.ejogrb.2017.06.038","article-title":"Diminished ovarian reserve in women with transfusion-dependent beta-thalassemia major: Is iron gonadotoxic?","volume":"216","author":"Uysal","year":"2017","journal-title":"Eur. J. Obstet. Gynecol. Reprod. Biol."},{"key":"ref_124","first-page":"158","article-title":"The experience of a tertiary unit on the clinical phenotype and management of hypogonadism in female adolescents and young adults with transfusion dependent thalassemia","volume":"90","author":"Soliman","year":"2019","journal-title":"Acta Biomed."},{"key":"ref_125","first-page":"6","article-title":"Hypogonadism in male thalassemia major patients: Pathophysiology, diagnosis and treatment","volume":"89","author":"Soliman","year":"2018","journal-title":"Acta Biomed."},{"key":"ref_126","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1007\/s12020-018-1772-4","article-title":"Gonadotropin replacement in male thalassemia major patients with arrested puberty and acquired hypogonadotropic hypogonadism (AAH): Preliminary results and potential factors affecting induction of spermatogenesis","volume":"63","author":"Soliman","year":"2019","journal-title":"Endocrine"},{"key":"ref_127","first-page":"228","article-title":"Adverse events during testosterone replacement therapy in 95 young hypogonadal thalassemic men","volume":"90","author":"Soliman","year":"2019","journal-title":"Acta Biomed."},{"key":"ref_128","doi-asserted-by":"crossref","first-page":"593718","DOI":"10.3389\/fendo.2020.593718","article-title":"Consequences of \u03b2-Thalassemia or Sickle Cell Disease for Ovarian Follicle Number and Morphology in Girls Who Had Ovarian Tissue Cryopreserved","volume":"11","author":"Mamsen","year":"2021","journal-title":"Front. Endocrinol."},{"key":"ref_129","first-page":"432","article-title":"Successful pregnancy in a woman previously suffering from \u03b2-thalassemia following transplantation of ovarian tissue cryopreserved before puberty","volume":"70","author":"Matthews","year":"2018","journal-title":"Minerva Ginecol."},{"key":"ref_130","first-page":"47","article-title":"A pilot study on sperm DNA damage in \u03b2-thalassemia major: Is there a role for antioxidants?","volume":"89","author":"Elsedfy","year":"2018","journal-title":"Acta Biomed."},{"key":"ref_131","doi-asserted-by":"crossref","first-page":"60","DOI":"10.1007\/s11934-018-0808-x","article-title":"Iron and a Man\u2019s Reproductive Health: The Good, the Bad, and the Ugly","volume":"19","author":"Gabrielsen","year":"2018","journal-title":"Curr. Urol. Rep."},{"key":"ref_132","doi-asserted-by":"crossref","first-page":"655","DOI":"10.1038\/pr.2017.296","article-title":"Effect of iron overload on impaired fertility in male patients with transfusion-dependent beta-thalassemia","volume":"83","author":"Chen","year":"2018","journal-title":"Pediatr. Res."},{"key":"ref_133","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1186\/s40738-020-00071-6","article-title":"Indicators of male fertility potential in adult patients with beta-thalassemia major: A comparative study between patients undergone allogeneic stem cell transplantation and transfusion-dependent patients","volume":"6","author":"Rostami","year":"2020","journal-title":"Fertil. Res. Pract."},{"key":"ref_134","first-page":"1","article-title":"Testicular Tissue Banking for Fertility Preservation in Young Boys: Which Patients Should Be Included?","volume":"322","author":"Delgouffe","year":"2022","journal-title":"Front. Endocrinol."},{"key":"ref_135","doi-asserted-by":"crossref","first-page":"1007","DOI":"10.1089\/scd.2017.0301","article-title":"Development of Postmeiotic Cells In Vitro from Spermatogonial Cells of Prepubertal Cancer Patients","volume":"27","author":"AbuMadighem","year":"2018","journal-title":"Stem Cells Dev."},{"key":"ref_136","doi-asserted-by":"crossref","first-page":"388","DOI":"10.1038\/bmt.2016.287","article-title":"Pregnancy outcome following hematopoietic cell transplantation for thalassemia major","volume":"52","author":"Santarone","year":"2017","journal-title":"Bone Marrow Transplant."},{"key":"ref_137","doi-asserted-by":"crossref","first-page":"e2019019","DOI":"10.4084\/mjhid.2019.019","article-title":"Pregnancy in Thalassemia.Mediterr","volume":"11","author":"Origa","year":"2019","journal-title":"J. Hematol. Infect. Dis."},{"key":"ref_138","first-page":"326","article-title":"Prevention programmes and prenatal diagnosis for betathalassemia in Pakistan: A narrative review","volume":"71","author":"Ghafoor","year":"2021","journal-title":"J. Pak. Med. Assoc."},{"key":"ref_139","doi-asserted-by":"crossref","first-page":"847","DOI":"10.1515\/jpm-2021-0021","article-title":"Professionally responsible management of the ethical and social challenges of antenatal screening and diagnosis of \u03b2-thalassemia in a high-risk population","volume":"49","author":"Corda","year":"2021","journal-title":"J. Perinat. Med."},{"key":"ref_140","doi-asserted-by":"crossref","first-page":"e22306","DOI":"10.1002\/jcla.22306","article-title":"Molecular prenatal diagnosis of alpha and beta thalassemia in pregnant Hakka women in southern China","volume":"32","author":"Zhao","year":"2018","journal-title":"J. Clin. Lab. Anal."},{"key":"ref_141","doi-asserted-by":"crossref","first-page":"672","DOI":"10.1080\/16078454.2022.2080427","article-title":"Prevalence and molecular characterization of common thalassemia among people of reproductive age in the border area of Guangxi-Yunnan-Guizhou province in Southwestern China","volume":"27","author":"Xu","year":"2022","journal-title":"Hematology"},{"key":"ref_142","doi-asserted-by":"crossref","unstructured":"Kiani, A.A., Mohamadinejad, M., Shokrgozar, N., and Abbasian, S. (2022). Mutations in Thalassemia Carrier Couples: The Importance of Prenatal Diagnostic Tests. Clin. Lab., 68.","DOI":"10.7754\/Clin.Lab.2021.210816"},{"key":"ref_143","doi-asserted-by":"crossref","first-page":"549","DOI":"10.1007\/s10815-020-01732-7","article-title":"Eleven healthy live births: A result of simultaneous preimplantation genetic testing of \u03b1- and \u03b2-double thalassemia and aneuploidy screening","volume":"37","author":"Chen","year":"2020","journal-title":"J. Assist. Reprod. Genet."},{"key":"ref_144","doi-asserted-by":"crossref","first-page":"365","DOI":"10.1007\/s10815-020-02006-y","article-title":"Development and clinical application of a preimplantation genetic testing for monogenic disease (PGT-M) for betathalassemia in Vietnam","volume":"38","author":"Mai","year":"2021","journal-title":"J. Assist. Reprod. Genet."},{"key":"ref_145","doi-asserted-by":"crossref","first-page":"82","DOI":"10.3892\/br.2021.1458","article-title":"Droplet-based digital PCR for non-invasive prenatal genetic diagnosis of \u03b1 and \u03b2-thalassemia","volume":"15","author":"Sawakwongpra","year":"2021","journal-title":"Biomed. Rep."},{"key":"ref_146","doi-asserted-by":"crossref","first-page":"e14999","DOI":"10.1111\/ped.14999","article-title":"Prenatal diagnosis of maternal serum from mothers carrying \u03b2-thalassemic fetus","volume":"64","author":"Fazal","year":"2021","journal-title":"Pediatr. Int."},{"key":"ref_147","doi-asserted-by":"crossref","first-page":"617780","DOI":"10.3389\/fgeed.2020.617780","article-title":"A Small Key for a Heavy Door: Genetic Therapies for the Treatment of Hemoglobinopathies","volume":"2","author":"Zittersteijn","year":"2021","journal-title":"Front. Genome Ed."},{"key":"ref_148","doi-asserted-by":"crossref","unstructured":"Monni, G., Peddes, C., Iuculano, A., and Ibba, R.M. (2018). From prenatal to preimplantation genetic diagnosis of \u0392-thalassemia. Prevention model in 8748 cases: 40 years of single center experience. J. Clin. Med., 7.","DOI":"10.3390\/jcm7020035"},{"key":"ref_149","first-page":"578","article-title":"Feasibility and Safety of ChorionicVillusSampling (CVS) for Prenatal Diagnosis of Thalassemia in Bangladesh","volume":"27","author":"Kazal","year":"2018","journal-title":"Mymensingh Med. J."},{"key":"ref_150","doi-asserted-by":"crossref","first-page":"100976","DOI":"10.1016\/j.spen.2022.100976","article-title":"Prenatal Genetic Testing and Screening: A Focused Review","volume":"42","author":"Caceres","year":"2022","journal-title":"Semin. Pediatr. Neurol."},{"key":"ref_151","doi-asserted-by":"crossref","first-page":"e13557","DOI":"10.1097\/MD.0000000000013557","article-title":"Invasive molecular prenatal diagnosis of alpha and betathalassemia among Hakka pregnant women","volume":"97","author":"Wu","year":"2018","journal-title":"Medicine"},{"key":"ref_152","doi-asserted-by":"crossref","first-page":"1108","DOI":"10.1038\/s41409-022-01663-0","article-title":"Health-related quality of life in pediatric patients with \u03b2-thalassemia major after hematopoietic stem cell transplantation","volume":"57","author":"Liang","year":"2022","journal-title":"Bone Marrow Transplant."},{"key":"ref_153","doi-asserted-by":"crossref","unstructured":"Mulas, O., Mola, B., Caocci, G., and La Nasa, G. (2022). Conditioning Regimens in Patients with \u03b2-Thalassemia Who Underwent Hematopoietic Stem Cell Transplantation: A Scoping Review. J. Clin. Med., 11.","DOI":"10.3390\/jcm11040907"},{"key":"ref_154","doi-asserted-by":"crossref","first-page":"1143","DOI":"10.3324\/haematol.2017.183467","article-title":"Late effects after hematopoietic stem cell transplantation for \u03b2-thalassemia major: The French national experience","volume":"103","author":"Rahal","year":"2018","journal-title":"Haematologica"},{"key":"ref_155","doi-asserted-by":"crossref","first-page":"20190005","DOI":"10.1515\/hmbci-2019-0005","article-title":"A case of post-splenectomy transfusion-dependent homozygous beta-thalassemia major complicated with myocardial siderosis and osteoporosis and usage of iron-chelating therapy with deferiprone in pregnancy","volume":"39","author":"Ahmad","year":"2019","journal-title":"Horm. Mol. Biol. Clin. Investig."},{"key":"ref_156","doi-asserted-by":"crossref","first-page":"902","DOI":"10.1080\/01443615.2019.1692802","article-title":"Reproductive health issues in female patients with beta-thalassaemia major: A narrative literature review","volume":"40","author":"Cassinerio","year":"2020","journal-title":"J. Obstet. Gynecol."},{"key":"ref_157","doi-asserted-by":"crossref","first-page":"371","DOI":"10.1159\/000503707","article-title":"Consensus Statement by an Expert Panel on the Diagnosis and Management of Iron Deficiency Anemia in the Gulf Cooperation Council Countries","volume":"29","author":"Aleem","year":"2020","journal-title":"Med. Princ. Pract."},{"key":"ref_158","doi-asserted-by":"crossref","first-page":"390","DOI":"10.1111\/bjh.17827","article-title":"Iron parameters in pregnant women with beta-thalassaemia minor combined with iron deficiency anaemia compared to pregnant women with iron deficiency anaemia alone demonstrate the safety of iron supplementation in beta-thalassaemia minor during pregnancy","volume":"196","author":"Chen","year":"2022","journal-title":"Br. J. Haematol."},{"key":"ref_159","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1007\/s00277-021-04697-4","article-title":"Pregnancy outcome in women with transfused beta-thalassemia in France","volume":"101","author":"Virot","year":"2022","journal-title":"Ann. Hematol."},{"key":"ref_160","first-page":"394","article-title":"Outcome of Pregnancy with Hemoglobinopathy in a Tertiary Care Center","volume":"68","author":"Chauhan","year":"2018","journal-title":"J. Obstet. Gynecol."},{"key":"ref_161","doi-asserted-by":"crossref","first-page":"166","DOI":"10.1159\/000480450","article-title":"Pregnancy Outcome among Women with Beta-Thalassemia Major in North Sardinia","volume":"138","author":"Fozza","year":"2017","journal-title":"Acta Haematol."},{"key":"ref_162","doi-asserted-by":"crossref","first-page":"878680","DOI":"10.3389\/fendo.2022.878680","article-title":"Case Report: Abnormally Low Glycosylated Hemoglobin A1c Caused by Clinically Silent Rare \u03b2-Thalassemia in a Tujia Chinese Woman","volume":"13","author":"Gao","year":"2022","journal-title":"Front. Endocrinol."},{"key":"ref_163","doi-asserted-by":"crossref","first-page":"2305","DOI":"10.1007\/s13300-018-0516-z","article-title":"Investigating the Reliability of HbA1c Monitoring for Blood Glucose Control During Late Pregnancy in Patients with Gestational Diabetes Mellitus (GDM) with and without \u03b2-Thalassemia Minor","volume":"9","author":"Zhang","year":"2018","journal-title":"Diabetes Ther."},{"key":"ref_164","doi-asserted-by":"crossref","first-page":"2487","DOI":"10.1210\/clinem\/dgaa306","article-title":"Osteoporosis in Premenopausal Women: A Clinical Narrative Review by the ECTS and the IOF","volume":"105","author":"Pepe","year":"2020","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"ref_165","doi-asserted-by":"crossref","unstructured":"Mansur, J.L., Oliveri, B., Giacoia, E., Fusaro, D., and Costanzo, P.R. (2022). Vitamin D: Before, during and after Pregnancy: Effect on Neonates and Children. Nutrients, 14.","DOI":"10.3390\/nu14091900"},{"key":"ref_166","doi-asserted-by":"crossref","unstructured":"Qian, Y., Wang, L., Yu, L., and Huang, W. (2021). Pregnancy- and lactation-associated osteoporosis with vertebral fractures: A systematic review. BMC Musculoskelet. Disord., 22.","DOI":"10.1186\/s12891-021-04776-7"},{"key":"ref_167","doi-asserted-by":"crossref","first-page":"36","DOI":"10.1007\/s11657-022-01077-x","article-title":"Bone metabolism and osteoporosis during pregnancy and lactation","volume":"17","year":"2022","journal-title":"Arch. Osteoporos."}],"container-title":["Diagnostics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2075-4418\/12\/8\/1921\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T00:06:01Z","timestamp":1760141161000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2075-4418\/12\/8\/1921"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,8,9]]},"references-count":167,"journal-issue":{"issue":"8","published-online":{"date-parts":[[2022,8]]}},"alternative-id":["diagnostics12081921"],"URL":"https:\/\/doi.org\/10.3390\/diagnostics12081921","relation":{},"ISSN":["2075-4418"],"issn-type":[{"value":"2075-4418","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,8,9]]}}}