A novel compound heterozygous of ß-thalassemia with HbG-Coushatta: case report of Iran.
Hum Genome Var
; 10(1): 14, 2023 May 15.
Article
em En
| MEDLINE
| ID: mdl-37188672
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.
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