First Report Of Nondeletional Hb H Disease Caused By An Alpha 2-Globin Gene Mutation: Hba2: C.184a>T

We report a rare mutation, HBA2: c.184A>T on the alpha 2-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 alpha 2-globin gene. Carriers of this mutation showed a borderline microcytic hypochromia. Our study indicates the importance of screening nondeletional alpha-thalassemia (alpha-thal) in areas with a particularly high prevalence of thalassemia such as in Southern China, especially for couples with one partner carrying an alpha(0)-thal deletion.