Hb Mazandaran (α1) α51 Gly > Cys(CE9), c.154 GGC > TGC: A Novel Haemoglobin Variant of α1-Globin Gene

نویسندگان

چکیده

This is a report of novel variant the α1-globin gene—(α1) α51 Gly > Cys (CE9), c.154 GGC TGC, named Hb Mazandaran, which was observed in an Iranian family. gives rise to previously undescribed haemoglobin that undetectable by capillary electrophoresis (CE). detected two cases combination with β-globin mutation, and it does not seem be associated severe haematological abnormalities carriers.

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ژورنال

عنوان ژورنال: Thalassemia Reports

سال: 2022

ISSN: ['2039-4357', '2039-4365']

DOI: https://doi.org/10.3390/thalassrep12030010