Further Cases of Hb Q-H Disease (Hb Q-α Thalassemia)

Case reports of four patients, all Chinese, with Hb Q-H disease—also called Hb Q-α thalassemia—are presented. Three were siblings. Symptoms of chronic hemolytic anemia with jaundice and hepatosplenomegaly were present in all four subjects. The red blood cells were microcytic. Slight hypochromia was present in three of the cases. Poikilo- and anisocytosis with target cells and small intraerythrocytic crystals were found in the blood. Starch-gel electrophoresis revealed the presence of a large amount of Hb Q, a small amount of Hb H, and a minor slow-moving hemoglobin component with a mobility as much behind Hb A₂ as Hb Q was behind Hb A. A small amount of Hb "Bart’s" was probably also present. The minor slow-moving component was thought to represent Hb α₂^Qδ₂^A₂ or Hb Q₂. Hb A and Hb A₂ were not seen except after recent blood transfusion. Study of hemoglobin polypeptide chains showed the presence of normal β^A-chains and abnormal α^Q-chains, without demonstrable α^A-chains in the first three patients. In Patient #4 normal α^A-chains were demonstrable only after recent blood transfusion. The mother of the three siblings was heterozygous for Hb A; the father had α-thalassemia trait.