Prevalence And Impact Of Albinism, Hemophilia, Thalassemia Among Consanguineous Marriages In District Khairpur Sindh, Pakistan

Abstract

This research, conducted in specific areas of the district Khairpur Mirs’ in Sindh, Pakistan on three genetic disorders Albinism, Hemophilia and Thalassemia, from March 1, 2023, to August 28, 2023. Albinism primarily affects pigmentation, Thalassemia and Hemophilia have significant impacts on blood. This study aimed to determine the prevalence and primary focus was on the consanguinity association with these three genetic conditions in the population of specific areas within the district. The results revealed that Thalassemia was the most prevalent genetic condition, affecting a significant 33.36% of the population, with a cumulative prevalence of 40.23% when considering all three conditions. Gender distribution analysis showed changing patterns across the three genetic conditions. Markedly, Albinism predominantly affected males, with 70% of cases occurring in males and 30% in females. In contrast, Hemophilia showed a more balanced gender distribution, with 57.19% of cases in males and 42.81% in females. Thalassemia, had a greater prevalence in males, with 60.09% affected, while 39.91% were female. Age-wise analysis revealed patterns, specifying that Albinism primarily affected individuals in the 2-12 age group, comprising 25% of all cases in this category. Hemophilia, on the other hand, exhibited the highest number of cases in the 44-52 age group. Constituting 30.17% of all Hemophilia cases. Thalassemia mainly affected individuals in the 13-22 age group, making up 33.67% of all Thalassemia cases. Moreover, the study explored the prevalence of consanguineous in marriages among individuals with these genetic conditions. The data highlighted that consanguineous marriages, particularly in cases of Thalassemia, were prevalent, with 97.43% of marriages involving close relatives. These findings suggest a potential link between consanguinity and the prevalence of these genetic conditions, emphasizing the need for further research into genetic factors and family history.