CONSANGUINEOUS MARRIAGES AND THALASSEMIA MAJOR IN PAKISTAN: A CROSS-SECTIONAL STUDY ON AWARENESS AND PREVALENCE

Background: This study aimed to investigate the association between cousin marriages and the risk of Thalassemia major in Pakistan, while also assessing the awareness levels of affected patients regarding the disease and their inclination towards premarital carrier screening, prenatal diagnosis, and preconception genetic counseling. Introduction: Thalassemia major stands as one of the most prevalent inherited diseases in Pakistan, attributed to various genetic defects hindering globin chain synthesis. With approximately 5000 new cases diagnosed annually and over 50,000 registered Thalassemia patients receiving treatment across the nation, the disease poses a significant public health concern. Study Design: A descriptive cross-sectional study was conducted at the Thalassemia blood center, Hilal-e-Ahmer trust hospital in Sargodha, from March 2022 to October 2022. A pretested predesigned close-ended questionnaire was utilized to collect data from a sample size of 200 participants, comprising Thalassemia patients resulting from cousin and non-cousin marriages. The study obtained approval from the ethical review committee of the institution before commencement. Results: Our findings revealed a slight male predominance, with 54% males and 46% females. Cousin marriages accounted for 79% of patients, highlighting the significant influence of genetic factors in Thalassemia major prevalence. Among families, cousin marriage was prevalent in 86% of cases. Additionally, 52% of parents of Thalassemia patients became aware of their carrier status after undergoing screening. Conclusion: The high prevalence of cousin marriages in our sociocultural context contributes to the persistent increase in Thalassemia major cases. Furthermore, inadequate awareness among affected individuals underscores the need for comprehensive education initiatives targeting the general public, parents, and families of Thalassemia patients.