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

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 seq...

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Detalles Bibliográficos
Autores principales: Soozangar, Narges, Abbaspour, Ehsan, Mokaber, Haleh, Nematollahi, Zahra, Davarnia, Behzad
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10185494/
https://www.ncbi.nlm.nih.gov/pubmed/37188672
http://dx.doi.org/10.1038/s41439-023-00243-y
Descripción
Sumario: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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