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

Narges Soozangar1,2, Ehsan Abbaspour1, Haleh Mokaber1

  • 1Department of Medical Genetics and Pathology, Ardabil University of Medical Sciences, Ardabil, Iran.

Human Genome Variation
|May 15, 2023
PubMed

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.

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