An unusual variant of hereditary spherocytosis

Abstract

A variant of hereditary spherocytosis is described in which red cell survival studies indicated severe splenic conditioning of nearly all the circulating red cells. Clinical features also suggested a severe form of the disease with anemia, splenomegaly, a history of leg ulcers and retardation of growth in childhood. Osmotic fragility testing showed a high median corpuscular fragility which decreased appreciably after removal of the spleen. Autohemolysis was atypical for hereditary spherocytosis in that the increased hemolysis of incubated blood was not corrected by glucose supplementation, although after splenectomy the autohemolysis reverted to the typical pattern. Transfusion of the patient's red cells to a normal compatible recipient resulted in their removal by the spleen with a half time ( T 1 2 ) of twelve and a half minutes, equivalent to complete removal of these cells during a single passage through the spleen. After the patient's spleen had been removed, however, his red cells survived in a normal recipient with a T 1 2 of ninety minutes. This difference in survival times clearly demonstrates that splenic conditioning had a deleterious effect on the in vivo survival of the patient's cells; moreover splenic conditioning also seemed responsible for the atypical autohemolysis of these cells. Since the patient's cells survived with a T 1 2 of ten days in his own circulation but with a T 1 2 of only twelve and a half minutes in a normal recipient, the efficiency of the patient's spleen in removing his own circulating red cells was severely limited. This inefficiency in the sequestering function of the patient's spleen was attributed to reticuloendothelial blockade. The observation of Howell-Jolly bodies in the patient's red cells before splenectomy was also consistent with reticuloendothelial blockade and reduction in the “pitting” function of the spleen.