First Reported Case of Hemoglobin H Disease Caused by the Rare α-Globin Gene Mutation ( HBA2 c.244delT) in a Chinese Family

Microcytosis of red cells and mild anemia are common in thalassemia carriers but those phenotypes are not specific. It is really a challenge for clinical interpretation of those variants. Co-segregation with disease in affected family members or specific phenotypes such as the abnormal Hb H are very helpful to assess the pathogenicity of rare variants.