Morbidity Profile, Familial Aggregation, and Survival Challenges in Transfusion-Dependent Thalassemia: Evidence from Rawalpindi/Islamabad and Potohar Region, Pakistan
Keywords:
Thalassemia, iron overload, splenomegaly, premature mortality, consanguinityAbstract
OBJECTIVE: To explore the clinical characteristics, transfusion-related complications, and age distribution patterns suggestive of survival challenges among BTM patients in Islamabad / Rawalpindi and the Potohar region.
METHODOLOGY: A cross-sectional, multi-centric study was conducted from January to June 2025, following ethical approval from Quaid-e-Azam University, Islamabad. A total of 497 BTM patients were identified from transfusion centers and door-to-door surveys. Convenience sampling was employed to recruit confirmed transfusion-dependent BTM cases. Data on clinical presentation, treatment history, and transfusion-related parameters were recorded. Participants with coexisting hemoglobinopathies or incomplete clinical records were excluded. Data were analyzed using GraphPad Prism (version 5.00). Additionally, qualitative insights were obtained from caregivers’ and clinicians’ perspectives on survival trends and a literature review of Pakistani studies.
RESULTS: This cohort comprised 56% males and 44% females, with 36% aged 5–9 years and only 6% aged?20 years. Clinical manifestations ranged from mild (jaundice: 50%) to severe complications (anemia: 64%, recurrent infections: 34%). Chronic morbidities were frequent, notably iron overload (83%) and splenomegaly (54%). Eight percent of patients required blood transfusions every 15–30 days. Forty-one percent of the patients were infected with hepatitis B/C, and 88% were receiving chelation therapy. Familial aggregation was common: 71% had parental consanguinity, 43% had multiple affected relatives, and 29% of cases reported thalassemia-related mortalities.
CONCLUSION: This study underscores the disease burden, complications, and survival challenges
among Pakistani BTM patients, highlighting the need for improved disease management, timely chelation and better healthcare access.
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