A novel compound heterozygous of β-thalassemia with HbG-Coushatta: case report of Iran-Reference-Cited by-同舟云学术

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

Published:2023-05-15 Issue:1 Volume:10 Page:
ISSN:2054-345X
Container-title:Human Genome Variation
language:en
Short-container-title:Hum Genome Var

Author:

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

Abstract

AbstractA 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.

Publisher

Springer Science and Business Media LLC

Subject

Genetics,Molecular Biology,Biochemistry

Link

https://www.nature.com/articles/s41439-023-00243-y.pdf

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