Demographics, Clinical, Hematological, Blood Group Distribution and Transfusion profile of patients with β- Thalassemia Major in District Karak, Pakistan

Abstract

β-globin, Defective synthesis of the chain is the hallmark of β-thalassemia major, is a severe hemoglobin condition that causes chronic decrease in RBCs and a lifelong reliance on blood transfusions. To evaluate the blood group distribution, transfusion patterns, clinical aspects, hematological parameters, and demographics of patients with β-thalassemia major in District Karak, Pakistan was the major goal of this study. In cooperation with DHQ Hospital Karak, 250 diagnosed patients from distract Karak participated in a cross-sectional study design. A standardized questionnaire and patient medical records, including reports from hemoglobin electrophoresis and complete blood counts (CBCs), were used to gather required information. For statistical analysis SPSS was used. The outcomes indicated a male predominance, with 57.5% of patients being both male 42.8% and female 76.8% of patients were between the ages of 1 and 10. In 56.8% of instances, a good family history was noted. Parental consanguinity was very common with 78.8% of first-cousin weddings and 14.8% of second-cousin weddings. Hepatomegaly (14.8%), splenomegaly (24.8%), and weakness (22.4%) were the most prevalent clinical characteristics. Hematological study showed decreased MCV and MCH values consistent with microcytic hypochromic anemia, as well as a mean hemoglobin level of 6.7 ± 0.94 g/dL, indicating severe anemia. According to analysis of blood group, the most common was O+ (24%), then B+ (23.2%) with AB+ (19.22%). In terms of transfusion patterns, 31.2% of patients needed a blood transfusion every three weeks, compared to 56.8% who needed one every four weeks.  The results show that District Karak has a high β-thalassemia major disease burden, which is closely linked to consanguineous marriages and inadequate healthcare resources. Early diagnosis, routine monitoring, better transfusion procedures, the application of preventive measures including genetic counseling and premarital screening are the important highlighters of the study.

Keywords: β-thalassemia, Blood Group, Anemia, CBC, MCV, MCH