Frequency and Awareness of Thalassemia in Families with Cousin Marriages: A Study from Karachi, Pakistan

Aim of Study: To assess the frequency of thalassemia in families with cousin marriages.

- To assess the level of awareness of Thalassemia in affected patients.

Introduction: Thalassemia is one of the most common inherited diseases in Pakistan. According to few experts approximately 5000 children are diagnosed with this disease every year and according to some sources there are more than 50,000 Thalassemic patients registered in treatment centers all over the country.

Methodology: This cross-sectional study was conducted at OSF, AMTF and Hussaini Blood Bank, Karachi from January to December 2015. A total of 100 sample size was selected. Only Thalassemic people having consanguineous marriages were included in the study. Informed consent was taken from both the parents and patients. Structured questionnaire was devised to collect data from patients.

Results: When asked 56% (p=0.00) of patients said they had Thalassemia in their families and 28% (p= 0.268) have had deaths in their families due to Thalassemia. 92 %( p=0.00) of parents with cousin marriages had no awareness about Thalassemia before their first Thalassemic child and 63% (p= 0.012) were not aware about the treatment for Thalassemia even after their first Thalassemic child. Regarding screening test for Thalassemia 62% (p= 0.012) were aware of it and 98% (p=0.46) agreed to go through screening.

Conclusion: The study concluded that cousin marriages had high frequency of Thalassemia. Awareness of the patients was inadequate. General public, parents and families of the patients should be educated in this regard.