{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,14]],"date-time":"2026-09-14T10:03:26Z","timestamp":1789380206451,"version":"build-2803163510"},"reference-count":23,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2026,7,8]],"date-time":"2026-07-08T00:00:00Z","timestamp":1783468800000},"content-version":"vor","delay-in-days":7,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2026,7,1]],"date-time":"2026-07-01T00:00:00Z","timestamp":1782864000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Health Science Reports"],"published-print":{"date-parts":[[2026,7]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background and Aims<\/jats:title>\n                    <jats:p>Thalassemia remains a major public health concern in Pakistan, particularly in under\u2010resourced regions such as Balochistan, where limited healthcare access and high rates of consanguinity may influence disease burden and outcomes. This study aimed to describe the demographic, clinical, familial, and survival characteristics of thalassemia patients across Balochistan.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>A total of 459 transfusion\u2010dependent patients with hemoglobinopathies were recruited from various thalassemia centers across Balochistan during 2015\u20132022 and followed for 8 years. Detailed clinical and demographic characteristics, familial patterns, and treatment outcomes were documented. Pedigree analyses were performed to identify affected individuals within families. Descriptive statistics, chi\u2010square and Fisher's exact tests, Kaplan\u2013Meier survival analysis, and Cox proportional hazards models were applied.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>The multicenter cohort consisted of 60% males and 40% females. Most subjects were from Quetta (46%) and the rural outskirts of the Loralai, Zhob, and Pishin districts (33%). Over half (53%) belonged to low or poor socioeconomic backgrounds. \u03b2\u2010thalassemia major was diagnosed in 94% of cases, while \u03b2\u2010thalassemia intermedia, \u03b2\u2010thalassemia minor, and sickle cell\u2010\u03b2\u2010thalassemia each accounted for 2%. Patients aged up to 10 years made up 75% of the sample, with only 4% over 20 years old. Hepatomegaly and splenomegaly were observed in 14% and 13% of patients, respectively. Parental consanguinity was reported in 60% of cases, and 59% had a family history of thalassemia. In total, 1485 individuals across all families were affected, with a higher proportion of males (57%). There were 582 thalassemia\u2010related deaths. The average age at death was 19.42\u2009\u00b1\u20096.02 years, with males exhibiting a shorter life expectancy compared to females. The survival rate declined as the distance from the thalassemia centers increased by more than 100\u2009km.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>These results demonstrate a very high morbidity and mortality burden from thalassemia and highlight the need for a comprehensive intervention program to reduce its preventable impact.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/hsr2.72482","type":"journal-article","created":{"date-parts":[[2026,7,8]],"date-time":"2026-07-08T09:38:41Z","timestamp":1783503521000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Familial Aggregation and Poor Childhood Survival in Thalassemia Despite Early Diagnosis: A Longitudinal Study From Balochistan, Pakistan"],"prefix":"10.1002","volume":"9","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6947-6339","authenticated-orcid":false,"given":"Azmatullah","family":"Khan","sequence":"first","affiliation":[{"name":"Human Genetics Program, Department of Zoology, Faculty of Biological Sciences Quaid\u2010i\u2010Azam University Islamabad Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wardha Shamim","family":"Lodhi","sequence":"additional","affiliation":[{"name":"Sandeman Provincial Hospital Quetta Quetta Balochistan Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Muhammad Qasim","family":"Khan","sequence":"additional","affiliation":[{"name":"Human Genetics Program, Department of Zoology, Faculty of Biological Sciences Quaid\u2010i\u2010Azam University Islamabad Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Syeda Farwa","family":"Naqvi","sequence":"additional","affiliation":[{"name":"Human Genetics Program, Department of Zoology, Faculty of Biological Sciences Quaid\u2010i\u2010Azam University Islamabad Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saima","family":"Iram","sequence":"additional","affiliation":[{"name":"Sandeman Provincial Hospital Quetta Quetta Balochistan Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naseebullah","family":"Kakar","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics University of Regensburg &amp; Universit\u00e4tsklinikum Regensburg Regensburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5455-7849","authenticated-orcid":false,"given":"Yousaf","family":"Khan","sequence":"additional","affiliation":[{"name":"Department of Chemistry COMSATS University Islamabad Islamabad Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5563-9053","authenticated-orcid":false,"given":"Sajid","family":"Malik","sequence":"additional","affiliation":[{"name":"Human Genetics Program, Department of Zoology, Faculty of Biological Sciences Quaid\u2010i\u2010Azam University Islamabad Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,7,8]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1080\/03630269.2022.2059670"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.eclinm.2024"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1097\/MD.0000000000035455"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.1177\/26348535221103560"},{"issue":"1","key":"e_1_2_12_6_1","first-page":"45","article-title":"Challenges and Advancements in Thalassemia Treatment: A 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Impact of Consanguinity on the Prevalence and Outcomes of Thalassemia in South Asia","volume":"28","author":"Sumaira K.","year":"2022","journal-title":"Journal of Genetic Medicine"},{"key":"e_1_2_12_21_1","doi-asserted-by":"publisher","DOI":"10.4103\/GJTM.GJTM_72_19"},{"key":"e_1_2_12_22_1","doi-asserted-by":"publisher","DOI":"10.54393\/pjhs.v3i06.357"},{"issue":"3","key":"e_1_2_12_23_1","first-page":"231","article-title":"Socioeconomic Disparities in the Management of Thalassemia in Pakistan","volume":"65","author":"Khalid A.","year":"2020","journal-title":"International Journal of Public Health"},{"key":"e_1_2_12_24_1","doi-asserted-by":"publisher","DOI":"10.7759\/cureus.28561"}],"container-title":["Health Science 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