A Study on The Awareness of Consanguinity & Various Genetic Aspects Among the Parents of Children with Beta Thalassemia and To Understand the Usefulness of Various Indices in Identifying Beta Thalassemia Carriers in A Cohort of South Indian Patients

Abstract

Background: Beta thalassemia is one of the common single gene disorders in India. Screening relies on High performance Liquid Chromatography (HPLC) / Hemoglobin electrophoresis. But this being an expensive test, we looked at the usefulness of red blood cell indices in the identification of beta thalassemia carriers. We have also looked at the proportion of consanguinity and the awareness of genetic aspects of Beta thalassemia in this cohort. Methods: This is an observational study among parents of children with Beta thalassemia major attending hematology out-patient Department in a tertiary care centre in Chennai, South India. Their complete hemograms were analysed using Mentzer Index, Srivastava Index and Green & King Index. They were also asked to fill in a questionnaire to understand their level of awareness of Beta thalassemia, consanguinity and other demographic parameters. Results: Though the three indices were able to identify majority of the carriers, they missed 10-20% of carriers underscoring the fact that Complete Blood counts and HPLC together would remain the best modality.53% of this cohort were graduates and 26.7% were consanguineous. None of the parents had heard of thalassemia before their child’s diagnosis.53.3% understood the genetic nature of this disorder. Conclusion: Evaluating complete hemogram and HPLC would be the ideal screening method to identify Beta thalassemia carriers. More awareness needs to be initiated in the community about Beta thalassemia and universal screening for Beta thalassemia in all adults >18 years or at least for antenatal mothers should be initiated at the earliest.