A novel compound heterozygous of β-thalassemia with HbG-Coushatta: case report of Iran
In: Human Genome Variation, Jg. 10 (2023), Heft 1, S. 1-3
Online
academicJournal
Zugriff:
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 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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A novel compound heterozygous of β-thalassemia with HbG-Coushatta: case report of Iran
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Autor/in / Beteiligte Person: | Soozangar, Narges ; Abbaspour, Ehsan ; Mokaber, Haleh ; Nematollahi, Zahra ; Davarnia, Behzad |
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Zeitschrift: | Human Genome Variation, Jg. 10 (2023), Heft 1, S. 1-3 |
Veröffentlichung: | Nature Publishing Group, 2023 |
Medientyp: | academicJournal |
ISSN: | 2054-345X (print) |
DOI: | 10.1038/s41439-023-00243-y |
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