{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T01:44:16Z","timestamp":1760060656704,"version":"build-2065373602"},"reference-count":37,"publisher":"MDPI AG","issue":"17","license":[{"start":{"date-parts":[[2025,9,8]],"date-time":"2025-09-08T00:00:00Z","timestamp":1757289600000},"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>Background\/Objectives: Hemoglobinopathies, including thalassemia and sickle cell disease, are among the most common inherited disorders worldwide. This study aimed to profile hemoglobin variants in the Tharu community of Lakhimpur Kheri, Uttar Pradesh, with particular focus on the rare variant Hb J-Meerut [\u03b1 120 (H3) Ala\u2192Glu (\u03b11)]. Methods: A cross-sectional study was conducted during a community health camp in February 2024. Peripheral blood samples were collected from 505 individuals, of which 445 were analyzed using complete blood count (CBC) and high-performance liquid chromatography (HPLC). Suspected variants were confirmed by Sanger sequencing. Results: Hemoglobinopathies were identified in nearly one-fifth of participants. The major variants detected were sickle cell trait, \u03b2-thalassemia trait, and Hb J-Meerut. Sequencing confirmed Hb J-Meerut in the majority of suspected cases. HPLC profiles showed clear differences between groups, supporting its role as a reliable screening tool. Conclusions: Community-based screening combining HPLC and sequencing provides an effective approach for identifying both common and rare hemoglobin variants. Early detection of silent carriers such as Hb J-Meerut is essential for targeted genetic counseling and preventive strategies in high-risk populations.<\/jats:p>","DOI":"10.3390\/diagnostics15172268","type":"journal-article","created":{"date-parts":[[2025,9,8]],"date-time":"2025-09-08T10:29:07Z","timestamp":1757327347000},"page":"2268","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["High-Resolution Genetic Profiling of Hb J-Meerut and Other Hemoglobin Variants in the Tharu Population via HPLC and DNA Sequencing"],"prefix":"10.3390","volume":"15","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5426-1527","authenticated-orcid":false,"given":"Nitu","family":"Nigam","sequence":"first","affiliation":[{"name":"Cytogenetics Laboratory, Centre for Advanced Research, King George\u2019s Medical University, Lucknow 226003, UP, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rashmi","family":"Kushwaha","sequence":"additional","affiliation":[{"name":"Department of Pathology, King George\u2019s Medical University, Lucknow 226003, UP, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8635-8761","authenticated-orcid":false,"given":"Arti","family":"Gupta","sequence":"additional","affiliation":[{"name":"Department of Zoology, Sri Awadh Raj Singh Smarak Degree College, Ram Manohar Lohia University, Gonda 224001, UP, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M. L. B.","family":"Bhatt","sequence":"additional","affiliation":[{"name":"Kalyan Singh Super Speciality Cancer Institute and Hospital (KSSSCIH), Lucknow 226002, UP, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bhupendra","family":"Singh","sequence":"additional","affiliation":[{"name":"Department of Clinical Hematology, Chandan Hospital, Lucknow 226010, UP, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sanjay","family":"Nigam","sequence":"additional","affiliation":[{"name":"Department of Pathology, Rama Medical College-Hospital & Research Centre, Kanpur 208024, UP, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kirti","family":"Upadhyay","sequence":"additional","affiliation":[{"name":"Cytogenetics Laboratory, Centre for Advanced Research, King George\u2019s Medical University, Lucknow 226003, UP, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4629-5476","authenticated-orcid":false,"given":"Amro","family":"Amara","sequence":"additional","affiliation":[{"name":"Protein Research Department, Genetic Engineering and Biotechnology Research Institute (GEBRI), City of Scientific Research and Technological Applications (SRTA-City), New Borg El-Arab City P.O. Box 21934, Alexandria, Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sumit","family":"Rungta","sequence":"additional","affiliation":[{"name":"Department of Gastroenterology, King George\u2019s Medical University, Lucknow 226003, UP, India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2025,9,8]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"727","DOI":"10.1056\/NEJMra2021838","article-title":"\u03b2-Thalassemias","volume":"384","author":"Taher","year":"2021","journal-title":"N. Engl. J. Med."},{"key":"ref_2","doi-asserted-by":"crossref","unstructured":"He, L.-N., Chen, W., Yang, Y., Xie, Y.-J., Xiong, Z.-Y., Chen, D.-Y., Lu, D., Liu, N.-Q., Yang, Y.-H., and Sun, X.-F. (2019). Elevated Prevalence of Abnormal Glucose Metabolism and Other Endocrine Disorders in Patients with \u03b2-Thalassemia Major: A Meta-Analysis. BioMed Res. Int., 2019.","DOI":"10.1155\/2019\/6573497"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"e27067","DOI":"10.1002\/pbc.27067","article-title":"Epidemiologic and clinical characteristics of nontransfusion-dependent thalassemia in the United States","volume":"65","author":"Vichinsky","year":"2018","journal-title":"Pediatr. Blood Cancer"},{"key":"ref_4","first-page":"47","article-title":"In Patients with Minor Beta-Thalassemia, Cognitive Performance Is Related to Length of Education, But not to Minor Beta-Thalassemia or Hemoglobin Levels","volume":"14","author":"Ahmadpanah","year":"2019","journal-title":"Iran. J. Psychiatry"},{"key":"ref_5","doi-asserted-by":"crossref","unstructured":"Evangelidis, P., Venou, T.-M., Fani, B., Vlachaki, E., and Gavriilaki, E., on behalf of the International Hemoglobinopathy Research Network (INHERENT) (2023). Endocrinopathies in Hemoglobinopathies: What Is the Role of Iron?. Int. J. Mol. Sci., 24.","DOI":"10.3390\/ijms242216263"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"e6540436","DOI":"10.1097\/01.HS9.0000974920.65404.36","article-title":"PB2028: Acquired A-Thalassemia in a Patient with High-Risk Myelodysplastic Syndrome and Bone Marrow Fibrosis: Case Report and Literature Review","volume":"7","author":"Chissan","year":"2023","journal-title":"HemaSphere"},{"key":"ref_7","first-page":"124","article-title":"Two Interesting Cases of a Rare Haemoglobin Variant\u2014Haemoglobin J Meerut with Varied Clinical Presentations","volume":"16","author":"Aneesha","year":"2023","journal-title":"Hamdan Med. J."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"364","DOI":"10.1080\/03630269.2020.1817755","article-title":"Fifteen Cases of Hb J-Meerut: The Rare Association with Hb E and\/or HBA1: c.-24C>G (or HBA2) Variants","volume":"44","author":"Khalil","year":"2020","journal-title":"Hemoglobin"},{"key":"ref_9","first-page":"26","article-title":"Hb J- Meerut [\u03b1 120 (H3) Ala ->Glu (\u03b11)] in a Turkish Male","volume":"3","author":"Elam","year":"2006","journal-title":"Int. J. Med. Sci."},{"key":"ref_10","first-page":"e38357","article-title":"Hemoglobin Variants in Patients with Microcytic Hypochromic Anemia: A Review of Indian Studies","volume":"15","author":"Kharche","year":"2023","journal-title":"Cureus"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"110","DOI":"10.1007\/s12288-014-0409-x","article-title":"HPLC in Characterization of Hemoglobin Profile in Thalassemia Syndromes and Hemoglobinopathies: A Clinicohematological Correlation","volume":"31","author":"Khera","year":"2014","journal-title":"Indian J. Hematol. Blood Transfus."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"774","DOI":"10.31729\/jnma.7651","article-title":"Sickle Cell Anaemia among Tharu Population Visiting the Outpatient Department of General Medicine in a Secondary Care Centre: A Descriptive Cross-sectional Study","volume":"60","author":"Pandey","year":"2022","journal-title":"J. Nepal Med. Assoc."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"4305","DOI":"10.4103\/jfmpc.jfmpc_879_20","article-title":"A demographic prevalence of \u03b2 Thalassemia carrier and other hemoglobinopathies in adolescent of Tharu population","volume":"9","author":"Nigam","year":"2020","journal-title":"J. Fam. Med. Prim. Care"},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"434","DOI":"10.1111\/ijlh.14267","article-title":"Wide spectrum of novel and rare hemoglobin variants in the multi-ethnic Indian population: A review","volume":"46","author":"Thaker","year":"2024","journal-title":"Int. J. Lab. Hematol."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"548","DOI":"10.1002\/jha2.681","article-title":"Thalassemia care in Nepal: In dire need of improvement","volume":"4","author":"Devkota","year":"2023","journal-title":"EJHaem"},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1007\/s12687-020-00463-7","article-title":"Empowering newborn screening programs in African countries through establishment of an international collaborative effort","volume":"11","author":"Therrell","year":"2020","journal-title":"J. Community Genet."},{"key":"ref_17","unstructured":"Stoto, M.A., Almario, D.A., and McCormick, M.C. (2025, September 01). Public Health Screening Programs, Reducing the Odds: Preventing Perinatal Transmission of HIV in The United States, Available online: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK230552\/."},{"key":"ref_18","unstructured":"Khan, A., and Rehman, A.U. (2025, September 01). Laboratory Evaluation of Beta-Thalassemia, Available online: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK585044\/."},{"key":"ref_19","first-page":"397","article-title":"The Quantitative detection of different types of Hb variants through HPLC Technique: Report of 428 cases in Indian population","volume":"2","author":"Shrivastava","year":"2010","journal-title":"Res. J. Pharmacol. Pharmacodyn."},{"key":"ref_20","first-page":"134","article-title":"The \u0130mportance of DNA Sequencing for Abnormal Hemoglobins Detected by HPLC Screening","volume":"37","author":"Canatan","year":"2020","journal-title":"Turk. J. Hematol."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"e000067","DOI":"10.1136\/fmch-2018-000067","article-title":"Basics of statistics for primary care research","volume":"7","author":"Guetterman","year":"2019","journal-title":"Fam. Med. Community Health"},{"key":"ref_22","doi-asserted-by":"crossref","unstructured":"Popescu, G., Rusu, C., Ma\u0219taleru, A., Oancea, A., Cump\u0103t, C.M., Luca, M.C., Grosu, C., and Leon, M.M. (2025). Social and Demographic Determinants of Consanguineous Marriage: Insights from a Literature Review. Genealogy, 9.","DOI":"10.3390\/genealogy9030069"},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"100121","DOI":"10.1016\/j.jcoa.2024.100121","article-title":"Evolution and Applications of Next Generation Sequencing and Its Intricate Relations with Chromatographic and Spectrometric Techniques in Modern Day Sciences","volume":"5","author":"Katara","year":"2024","journal-title":"J. Chromatogr. Open"},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"2226","DOI":"10.18203\/2349-3291.ijcp20174762","article-title":"Rare association of Hemoglobin variant Hb J (\u03b1 mutation) with haemophilia A: Case report","volume":"4","author":"Deopa","year":"2017","journal-title":"Int. J. Contemp. Pediatr."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"193","DOI":"10.4103\/ejh.ejh_13_19","article-title":"A case of hemoglobin J-Meerut detected from Gujarat, India","volume":"44","author":"Wahengbam","year":"2019","journal-title":"Egypt. J. Haematol."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"572","DOI":"10.1007\/s12288-023-01648-z","article-title":"Comparison of HbA2 Using High Performance Liquid Chromatography Versus Haemoglobin Capillary Zone Electrophoresis","volume":"39","author":"Kaur","year":"2023","journal-title":"Indian J. Hematol. Blood Transfus."},{"key":"ref_27","doi-asserted-by":"crossref","unstructured":"Periyavan, S., Kumar, S., Mamatha, G.N., Hegde, S., Jain, S., Dhanya, R., Agarwal, R.K., and Faulkner, L. (2025). HPLC first approach in detecting thalassemia and other common hemoglobinopathies is more cost and time effective. Front. Hematol., 4.","DOI":"10.3389\/frhem.2025.1461498"},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"178","DOI":"10.1086\/430744","article-title":"Sickle cell trait and the risk of Plasmodium falciparum malaria and other childhood diseases","volume":"192","author":"Williams","year":"2005","journal-title":"J. Infect. Dis."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"509","DOI":"10.4103\/0971-5916.159492","article-title":"Sickle cell disease in tribal populations in India","volume":"141","author":"Colah","year":"2015","journal-title":"Indian J. Med. Res."},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"142","DOI":"10.1016\/S0140-6736(12)61229-X","article-title":"Global epidemiology of sickle haemoglobin in neonates: A contemporary geostatistical model-based map and population estimates","volume":"381","author":"Piel","year":"2013","journal-title":"Lancet"},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"21","DOI":"10.4103\/0971-5916.178582","article-title":"Sickle cell disease in India: A perspective","volume":"143","author":"Serjeant","year":"2016","journal-title":"Indian J. Med. Res."},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"24","DOI":"10.29245\/2572-9411\/2018\/3.1161","article-title":"Potential pitfalls in using HPLC and its interpretation in diagnosing HbS","volume":"3","author":"Nair","year":"2018","journal-title":"J. Rare Dis. Res. Treat."},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1186\/s12014-019-9261-1","article-title":"Clinical method evaluation of hemoglobin S and C identification by top-down selected reaction monitoring and electron transfer dissociation","volume":"16","author":"Lassout","year":"2019","journal-title":"Clin. Proteom."},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"257","DOI":"10.4103\/ajts.ajts_62_22","article-title":"Prevalence of hemoglobinopathies using high-performance liquid chromatography as diagnostic tool in anemic patients of tertiary care center of Western India","volume":"18","author":"Singh","year":"2022","journal-title":"Asian J. Transfus. Sci."},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"322","DOI":"10.1080\/03630269.2021.2003381","article-title":"Eleven Cases of Hb J-Paris-I [HBA2: c.38C>A (or HBA1)]: A Stable \u03b1 Chain Variant Elutes in the P3 Window on High-Performance Liquid Chromatography","volume":"45","author":"Khalil","year":"2021","journal-title":"Hemoglobin"},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"101678","DOI":"10.1016\/j.cegh.2024.101678","article-title":"Prevalence of Sickle Cell Disease, Sickle Cell Trait and HbS-\u03b2-Thalassemia in India: A Systematic Review and Meta-Analysis","volume":"28","author":"Rao","year":"2024","journal-title":"Clin. Epidemiol. Glob. Health"},{"key":"ref_37","first-page":"65","article-title":"Genetic Hemoglobin Disorders Among the People of Assam: A Tertiary Care Hospital-Based Study","volume":"12","year":"2023","journal-title":"Int. J. Med. Res. Health Sci."}],"container-title":["Diagnostics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2075-4418\/15\/17\/2268\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,9]],"date-time":"2025-10-09T18:41:49Z","timestamp":1760035309000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2075-4418\/15\/17\/2268"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,9,8]]},"references-count":37,"journal-issue":{"issue":"17","published-online":{"date-parts":[[2025,9]]}},"alternative-id":["diagnostics15172268"],"URL":"https:\/\/doi.org\/10.3390\/diagnostics15172268","relation":{},"ISSN":["2075-4418"],"issn-type":[{"type":"electronic","value":"2075-4418"}],"subject":[],"published":{"date-parts":[[2025,9,8]]}}}