First Report of Nondeletional Hb H Disease Caused by an Α2-Globin Gene Mutation: HBA2: C.184a>t.
HEMOGLOBIN(2021)
Abstract
We report a rare mutation, HBA2: c.184A>T on the α2-globin gene, detected in a Chinese proband who presented with Hb H disease and a mild anemia. This frameshift mutation results in a premature termination of translation at position 61 of the α2-globin gene. Carriers of this mutation showed a borderline microcytic hypochromia. Our study indicates the importance of screening nondeletional α-thalassemia (α-thal) in areas with a particularly high prevalence of thalassemia such as in Southern China, especially for couples with one partner carrying an α0-thal deletion.
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Key words
α,-Thalassemia (α,-thal),frameshift mutation,HBA2 gene,nondeletional Hb H disease
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