A novel compound heterozygous of β-thalassemia with HbG-Coushatta: case report of Iran

Narges Soozangar; Ehsan Abbaspour; Haleh Mokaber; Zahra Nematollahi; Behzad Davarnia

doi:10.1038/s41439-023-00243-y

Human Genome Variation (May 2023)

A novel compound heterozygous of β-thalassemia with HbG-Coushatta: case report of Iran

Narges Soozangar,
Ehsan Abbaspour,
Haleh Mokaber,
Zahra Nematollahi,
Behzad Davarnia

Affiliations

Narges Soozangar: Department of Medical Genetics and Pathology, Ardabil University of Medical Sciences
Ehsan Abbaspour: Department of Medical Genetics and Pathology, Ardabil University of Medical Sciences
Haleh Mokaber: Department of Medical Genetics and Pathology, Ardabil University of Medical Sciences
Zahra Nematollahi: Department of Medical Genetics and Pathology, Ardabil University of Medical Sciences
Behzad Davarnia: Department of Medical Genetics and Pathology, Ardabil University of Medical Sciences

DOI: https://doi.org/10.1038/s41439-023-00243-y
Journal volume & issue: Vol. 10, no. 1
pp. 1 – 3

Abstract

Read online

Abstract A 30-year-old male couple from Ardabil city, Iran, were admitted for premarital screening. An abnormal band in HbS/D regions with high levels of HbF and HbA 2 led us to suspect the possibility of a compound heterozygous state of β-thalassemia in our affected proband. Therefore, beta globin chain sequencing of proband discovered a heterozygote combination of the Hb G-Coushatta [b22 (B4) Glu>Ala, HBB: c.68A>C) with HBB: IVS-II-1 (G>A) mutation as a compound heterozygote.

Published in Human Genome Variation

ISSN: 2054-345X (Online)
Publisher: Nature Publishing Group
Country of publisher: United Kingdom
LCC subjects: Science: Biology (General): Genetics; Science: Biology (General): Life
Website: http://www.nature.com/hgv/

About the journal