Familial Aggregation and Poor Childhood Survival in Thalassemia Despite Early Diagnosis: A Longitudinal Study From Balochistan, Pakistan.

Authors

Azmatullah Khan, Wardha Shamim Lodhi, Muhammad Qasim Khan, Syeda Farwa Naqvi, Saima Iram, Naseebullah Kakar, Yousaf Khan, Sajid Malik

Published in

Health science reports. Volume 9. Issue 7. Pages e72482. Epub Jul 08, 2026.

Abstract

Thalassemia remains a major public health concern in Pakistan, particularly in under-resourced 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.
A total of 459 transfusion-dependent patients with hemoglobinopathies were recruited from various thalassemia centers across Balochistan during 2015-2022 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-square and Fisher's exact tests, Kaplan-Meier survival analysis, and Cox proportional hazards models were applied.
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. β-thalassemia major was diagnosed in 94% of cases, while β-thalassemia intermedia, β-thalassemia minor, and sickle cell-β-thalassemia 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-related deaths. The average age at death was 19.42 ± 6.02 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 km.
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.

PMID:
42422164
Bibliographic data and abstract were imported from PubMed on 09 Jul 2026.

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