Hb Midnapore [β53(D4)Ala→Val; HBB: c.161C>T]: A Novel Hemoglobin Variant with a Structural Abnormality Associated with IVS-I-5 (G>C) (HBB: c.92+5G>C) Found in a Bengali Indian Family

Abstract

We describe a novel C>T substitution at codon 53 of the HBB gene (HBB: c.161C>T). The proband was a transfusion-dependent β-thalassemia major (β-TM) patient. DNA was extracted and subsequently, DNA sequencing was done to detect the mutations on the HBB gene. Capillary zone electrophoresis (CZE) revealed the presence of an unknown peak. She inherited this mutation from her grandmother through her mother. This mutation exists in cis with the common β⁰ mutation IVS-I-5 (G>C) (HBB: c.92+5G>C). The proband is homozygous for HBB: c.92+5G>C and needs monthly transfusions. On the other hand, her grandmother, mother and sister all possess this novel mutation cis with the heterozygous HBB: c.92+5G>C. They are carriers not thalassemic. This mutation produces the substitution β53(D4)Ala→Val; HBB: c.161C>T, a new structural hemoglobin (Hb) variant. As this variant was identified in a Bengali family from Paschim Midnapore district of West Bengal, India, it has been designated as Hb Midnapore. This variant has now been reported to the HbVar database.

Keywords:

• HBB
• c.161C>T
• hemoglobin (Hb) variant
• Hb Midnapore
• thalassemia

Acknowledgements

The authors are grateful to the Council of Scientific and Industrial Research (CSIR) for providing fellowship to AP and to the Fund for Improvement of S and T Infrastructure (FIST) of the Department of Science & Technology (DST), Government of India, New Dehli, India, for providing the infrastructural facility. The authors are also grateful to the Durgapur Society for Prevention of Thalassemia and AIDS, Durgapur, West Bengal, India, for patient management.

Disclosure statement

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

Funding

The authors acknowledge the financial support of the Department of Science and Technology (DST) Government of West Bengal, Kolkata, India [Ref. No. 687 (Sanc.)/ST/P/S&T/1G-20/2014].