2022
DOI: 10.3390/thalassrep12030010
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Hb Mazandaran (α1) α51 Gly > Cys(CE9), c.154 GGC > TGC: A Novel Haemoglobin Variant of α1-Globin Gene

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

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“…In the present study, we report a novel pathogenic variant in the α1-globin gene, Hb Adrian (α1: c.251del T), detected in a family from Mazandaran, in the north of Iran. In our previous work we have also reported another new variant of α-globin (Hb Mazandaran ) and the coinheritance of α-and β-globin gene mutations from Mazandaran province [20,21], which indicate the diversity of Hb variants in the region. The presented case was originally from Mazandaran province.…”
Section: Discussionmentioning
confidence: 92%
“…In the present study, we report a novel pathogenic variant in the α1-globin gene, Hb Adrian (α1: c.251del T), detected in a family from Mazandaran, in the north of Iran. In our previous work we have also reported another new variant of α-globin (Hb Mazandaran ) and the coinheritance of α-and β-globin gene mutations from Mazandaran province [20,21], which indicate the diversity of Hb variants in the region. The presented case was originally from Mazandaran province.…”
Section: Discussionmentioning
confidence: 92%