A Comprehensive Gap Analysis of Risk Factors for Transfusion Dependent Thalassemia in Siblings

Abstract

The transfusion-dependent form of thalassemia (TDT) presents as a challenging clinical scenario, requiring life-long care and monitoring. Managing a single TDT child is already very challenging for caregivers, and it becomes extremely burdensome if a couple has two children with TDT. The present study aims to make an effort to do a gap analysis in knowledge or communication, which might have resulted in a couple having two children with TDT. A total of 15 couples were identified who had two TDT children during the period from April 2022 to August 2023. Socio-demographic details, clinical history, three-generation pedigree, caregiver's knowledge about the inheritance pattern of thalassemia, the carrier status of 1st and 2nd-degree relatives, and the role of premarital and prenatal screening were recorded. The mean age difference between the first and second child was 2.6 ± 1.6 years, range 1–6 years. Siblings of 80% of TDT children had not been screened, and second-degree relatives of 86.6% of TDT children had not been screened for thalassemia. There was no history of consanguinity among these 15 families. 13.3% of couples were unaware of the inheritance pattern of thalassemia, and 20% were unaware of the role of consanguinity. At the time of interview, 26.6% of couples had not been tested for thalassemia and 40% parents had not received genetic counselling. Eighty percent of couples were unaware of premarital carrier screening for thalassemia, and only 40% knew about prenatal screening. The study highlights inadequate awareness among parents, delayed diagnosis, short intervals between the births of two children, insufficient genetic counselling, traditional societal beliefs, and reliance on traditional healing practices being the main factors leading to parents having two children with TDT.