{Reference Type}: Journal Article
{Title}: First Report of Nondeletional Hb H Disease Caused by an α2-Globin Gene Mutation: HBA2: c.184A>T.
{Author}: Tian Q;Lei YL;Xu LL;Li DZ;
{Journal}: Hemoglobin
{Volume}: 45
{Issue}: 3
{Year}: May 2021
{Factor}: 0.822
{DOI}: 10.1080/03630269.2021.1930553
{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.