Prevalence of Beta Thalassemia in Antenatal Diagnosis in North India

Jyotsana Gaur, Dr. Rashmi Arnold, Dr. Sunil K Pollipalli, Dr. Somesh Kumar, Dr. Seema Kapoor, Dr. Komal Uppal

Abstract: Beta thalassemia major, caused by mutations in HBB gene, poses a significant public health challenge in India, with 10, 000-12, 000 affected children born annually. This study aimed to determine the prevalence of beta-thalassemia among 253 antenatal screening couples in North India. Key findings revealed IVS 1: 5 (G>C) as the most common mutation, highlighting genetic diversity in the population. Employing targeted Sanger sequencing, the study offers a cost-effective solution for identifying HBB mutations. The findings underscore the importance of early screening and preventive programs to manage thalassemia in developing nations.

Keywords: beta thalassemia, HBB mutations, antenatal screening, North India, genetic diversity

How to Cite?: Jyotsana Gaur, Dr. Rashmi Arnold, Dr. Sunil K Pollipalli, Dr. Somesh Kumar, Dr. Seema Kapoor, Dr. Komal Uppal, "Prevalence of Beta Thalassemia in Antenatal Diagnosis in North India", Volume 13 Issue 12, December 2024, International Journal of Science and Research (IJSR), Pages: 923-927, https://www.ijsr.net/getabstract.php?paperid=SR241210134910, DOI: https://dx.doi.org/10.21275/SR241210134910