Hb E/β-Thalassemia: The Second Most Common Cause of Transfusion-Dependent Thalassemia in the Gwalior-Chambal Region of Central India

Abstract

With around 7,500 β-thalassemia (β-thal) births in India annually, preventive measures such as pre marital counseling and prenatal diagnosis are needed to decrease the incidence of the disease in the country. The predominant mutant alleles vary from the Middle East through India to Sri Lanka, as well as in different regions within a state in India. In the present study, involving the characterization of mutations in the Gwalior-Chambal region of Central India, IVS-I-5 (G>C) was found to be the most common allele followed by Hb E [β26(B8)Glu→Lys, GAG>AAG]/β-thal accounting for 10.83% and 619 bp deletion for 7.5% of the alleles. The high frequency of Hb E/β-thal in this region of Central India, unlike earlier reports from studies carried out in the state of Madhya Pradesh (Central India), mandates a more focused region-wise identification of common mutant alleles rather than the state as a whole.

• Mutation
• Thalassemia
• Hb E
• β-Globin gene

ACKNOWLEDGMENTS

This study has been supported by the Madhya Pradesh Council for Science and Technology, Bhopal, Madhya Pradesh, India. The authors are deeply indebted to Ms. Seema Pathak and all the staff at the Blood Bank, Jayarogya Hospital, Gajra Raja Medical College, Gwalior for providing blood samples of the patients. The help offered by Mr. K.L. Bambani, President, Thalassemia Society, Gwalior, Madhya Pradesh, India, in procuring the consent of patients is also acknowledged.

Declaration of Interest:

The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.