Barriers Associated with Acceptance of Genetic Counselling for Inherited Blood Disorders: A Mixed Method Analysis Among Patients and Their Parents in Tamil Nadu

Introduction: India has the largest number of children with Thalassemia major in the world – about 1 to 1.5 lakhs and almost 42 million carriers of ß (beta) thalassemia trait. About 10,000 -15,000 babies with thalassemia major are born every year. Sickle cell disease affects many communities in certain regions, such as central India and States of Gujarat, Maharashtra and Kerala. The carrier frequency of the Sickle cell gene varies from 1 to 35 % and hence there are a huge number of people with Sickle cell disease. Material and Methods: A mixed method study, carried out over a period of one year among patients affected with inherited blood disorders & their parents attending Government Dindigul medical college Hospital. Quantitative component as a descriptive cross-sectional study including 46 patients with inherited blood disorder and Explorative qualitative component with 4 Focused Group Discussion including patients and their parent. Results: Total 41.3% (n=19) between the age group of (4-19) and 58.7% (n=27) between the age group of 58.7%. Knowledge:95.6% of responders know what the disease is, and 91.1% recognize it as a hereditary disorder Prenatal Screening/Counselling 77.8% awareness. Premarital Screening 62.2% awareness Focus group discussion findings: ready to abort if the prenatal test was positive for bleeding disorders for the next child, Premarital counselling/test cannot be done because of the hesitation to ask to test their health status. Conclusion: Based on focus group discussion awareness programs and the poor clinical picture, including early mortality of affected children and the difficulties faced by the family members to bring them up and Premarital counselling/test cannot be done because of the hesitation to ask to test their health status, hence awareness on Premarital counselling and testing are emphasized.