Hemoglobin H disease due to a de novo mutation at the α2-globin gene and an inherited common α-thalassemia deletion found in a Chinese boy

We describe two frameshift mutations associated with an α-thalassemia (α-thal) phenotype, identified in three unrelated individuals investigated for persistent microcytosis. The first mutation, HBA2:c.131delT, is located in codon 43, and the second, HBA2:c.143delA, is located in codon 47. Both are due to single base pair deletions that cause a frameshift and a premature termination codon (PTC) at positions 48/49. The presence of a PTC at this position has been documented to result in nonsense mediated mRNA decay that would account for the thalassemic phenotype.

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α⁺-Thalassemia Due to a Frameshift Mutation of theα2-Globin Gene [codons 55/56 (+T) orHBA2: c.168dup]

Waye

Hanna

Hohenadel

et al. 2015

Hemoglobin

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Hemoglobin H disease due to a de novo mutation at the α2-globin gene and an inherited common α-thalassemia deletion found in a Chinese boy

Cited by 3 publications

References 21 publications

Update in the genetics of thalassemia: What clinicians need to know

Update in the genetics of thalassemia: What clinicians need to know

α-Thalassemia Trait Caused by Frameshift Mutations in Exon 2 of theα2-Globin Gene: HBA2:c.131delT and HBA2:c.143delA

α⁺-Thalassemia Due to a Frameshift Mutation of theα2-Globin Gene [codons 55/56 (+T) orHBA2: c.168dup]

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Hemoglobin H disease due to a de novo mutation at the α2-globin gene and an inherited common α-thalassemia deletion found in a Chinese boy

Cited by 3 publications

References 21 publications

Update in the genetics of thalassemia: What clinicians need to know

Update in the genetics of thalassemia: What clinicians need to know

α-Thalassemia Trait Caused by Frameshift Mutations in Exon 2 of theα2-Globin Gene: HBA2:c.131delT and HBA2:c.143delA

α+-Thalassemia Due to a Frameshift Mutation of theα2-Globin Gene [codons 55/56 (+T) orHBA2: c.168dup]

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α⁺-Thalassemia Due to a Frameshift Mutation of theα2-Globin Gene [codons 55/56 (+T) orHBA2: c.168dup]