Blood, 1966, Vol. 28, No. 6, pp. 830-839.
© 1966 American Society of Hematology, Inc.
Further Cases of Hb Q-H Disease
(Hb Q-
Thalassemia)
LIE-INJO LUAN ENG 1,
R. P. PILLAY 1, and
V. THURAISINGHAM 1
1 G. W. Hooper Foundation and the Hematology Unit, Department of Medicine,
University of California Medical Center, San Francisco, Calif.; the General Hospital, Kuala
Lumpur, Malaysia; and the General Hospital, Penang, Malaysia.
Case reports of four patients, all Chinese, with Hb Q-H diseasealso called
Hb Q-
thalassemiaare 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 "Barts"
was probably also present. The minor slow-moving component was thought to
represent Hb
2Q
2A2 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
A-chains and abnormal
Q-chains, without demonstrable
A-chains in the first three patients. In Patient #4 normal
A-chains were
demonstrable only after recent blood transfusion. The mother of the three
siblings was heterozygous for Hb A; the father had
-thalassemia trait.
Submitted on September 7, 1965
Accepted on April 23, 1966