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

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

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

Afiliação

Soozangar N; Department of Medical Genetics and Pathology, Ardabil University of Medical Sciences, Ardabil, Iran.
Abbaspour E; Zoonoses Research Center, Ardabil University of Medical Sciences, Ardabil, Iran.
Mokaber H; Department of Medical Genetics and Pathology, Ardabil University of Medical Sciences, Ardabil, Iran.
Nematollahi Z; Department of Medical Genetics and Pathology, Ardabil University of Medical Sciences, Ardabil, Iran.
Davarnia B; Department of Medical Genetics and Pathology, Ardabil University of Medical Sciences, Ardabil, Iran.

Hum Genome Var ; 10(1): 14, 2023 May 15.

Article em En | MEDLINE | ID: mdl-37188672

ABSTRACT

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 ß-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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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Hum Genome Var Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Irã

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