CULTURAL CONSANGUINITY AS CAUSE OF β-THALASSEMIA PREVALENCE IN POPULATION

Background Some 200 million people worldwide have haemoglobinopathies of some sort. Pakistan, where 80% consanguinity prevails because of marriages within caste groups that are anthropologically same. The study aims to reveal the impact of consanguinity on thalassemia in various castes in Punjab, Pakistan. Subjects and Methods 262 β-thalassemic patient’s families were studied. Patients were registered in various Thalassemia Blood Transfusion Hospitals/Centers, in the metropolitan city of Lahore, Punjab, Pakistan. Patients and parents were interviewed using structured questionnaire regarding information about name, age, sex, ethnicity (caste), educational status, consanguinity of parents, number of progenies, health status of children, pregnancy wastage and family history. Results The 262 (couples) parents of β-thalassemic patients revealed 96% consanguineous marriages with 72% first cousins, 10% distant blood relatives and 14% Bradari . Inter-castes marriages were 4% only. These families produced 1646 children, 582 males and 464 females. Of these, 303 boys and 293 girls are healthy, while 279 boys and 171 girls are thalassemic. In 26 castes, the prevalence of thalassemia varied from 21% to 3%. Rajput tribe on top followed by Arain. Conclusion Thalassemia is widely spread in Pakistani population. Its prevalence varied in caste groups due to endogamy, a major impact on the prevalence of thalassemia.