The Prevalence and Distribution of Beta Thalassemia Trait among Outpatient Individuals in A Tertiary Care Hospital of Lodhran, Pakistan

Thalassemia is an autosomal recessive genetic disorder characterized by impaired synthesis of hemoglobin due to mutations affecting the production of alpha (α) or beta (β) globin chains. This imbalance causes ineffective erythropoiesis, microcytic anemia, and hematological abnormalities. Objectives: To assess the prevalence and distribution of β-thalassemia carriers for implementing targeted screening and preventive strategies. Methods: This retrospective observational study analyzed 108 samples from patients who were suspected of a complete blood count parameter; which included Mean Corpuscular Volume, Mean Corpuscular Hemoglobin, and total red blood cell count. After that analysis of the suspected patients’ blood for Hb A2 through Hb Electrophoresis for the screening of the thalassemia trait was carried out. The data were sourced from Shahida Islam Medical College Hospital, reflecting the carrier status of the participants. Results: The findings of the study are distributed between 62 male and 46 female and demonstrated the presence of β-thalassemia trait across various age groups (mean age 25) and found typically higher (52.8%) in the age of 21 to 30 years. Specifically, 68 out of the 108 patients tested positive for the β-thalassemia trait having raised Hb A2 level on the Hb electrophoresis. Conclusions: It was concluded that the β-thalassemia trait is widespread across diverse ethnic groups. It highlights the necessity for standardized blood testing protocols for β-thalassemia screening. Implementing comprehensive screening programs, coupled with enhanced public awareness and educational campaigns, is crucial to mitigate the incidence of thalassemia major. These measures are essential for populations to prevent the transmission of this genetic abnormality.