Indian Journal of Obstetrics and Gynecology Research
Official Publication of Innovative Education and Scientific Research Foundation
Official Publication of Innovative Education and Scientific Research Foundation
Print ISSN: 2394-2746
Online ISSN: 2394-2754
CODEN : IJOGCS
Indian Journal of Obstetrics and Gynecology Research (IJOGR) open access, peer-reviewed quarterly journal publishing since 2014 and is published under auspices of the Innovative Education and Scientific Research Foundation (IESRF), aim to uplift researchers, scholars, academicians, and professionals in all academic and scientific disciplines. IESRF is dedicated to the transfer of technology and research by publishing scientific journals, research content, providing professional’s membership, and conducting conferences, seminars, and award more...Case Report
Author Details :
Volume : 11, Issue : 1, Year : 2024
Article Page : 112-115
https://doi.org/10.18231/j.ijogr.2024.022
Abstract
Hb Lepore is a fusion globin protein made of fused chains of delta and beta globin. It is a deletion haemoglobinopathy. In homozygote form, it is similar to transfusion dependent beta thalassaemia major, and in the heterozygous form, it causes mild microcytic hypochromic anaemia. In this case report, the couple has heterozygous Hb Lepore and heterozygous beta thalassaemia, with a pregnancy of 15weeks gestation. Prenatal testing by amniocentesis and HBB gene analysis for the fetus was done by sequencing and MLPA to detect the different types of mutations present in the parents. This case report reveals the importance of MLPA to be done along with sanger sequencing, to detect all types of mutations in the HBB gene.
Keywords: HB lepore, Beta thalassaemia, Prenatal, Haemoglobinopathy.
How to cite : Mukhopadhyay S, Haemoglobin lepore and beta thalassaemia traits – Prenatal testing by both sequence analysis and MLPA for HBB gene: A case report. Indian J Obstet Gynecol Res 2024;11(1):112-115
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