Blood, 1959, Vol. 14, No. 9, pp. 991-1007.
© 1959 American Society of Hematology, Inc.
Familial Hemolytic Anemia with Erythrocyte Inclusion
Bodies and a Defect in Pigment Metabolism
RUDI SCHMID 1,
GEORGE BRECHER 1, and
TED CLEMENS 1
1 National Institute of Arthritis and Metabolic Diseases, National Institutes of
Health, U.S.P.H.S., Bethesda, Md.
1. Two patients, a father and his only son, suffered from a severe congenital
hemolytic syndrome, which was characterized by the presence of spontaneous
inclusion bodies in erythrocytes and by the excretion of dark-brown pigments
in the urine.
2. The inclusion bodies present in approximately one-third of the erythrocytes, were indistinguishable from Heinz-Ehrlich bodies. They occurred in
reticulocytes and occasionally in normoblasts. In addition to these bodies,
many erythrocytes contained basophilic stippling, siderocytic granules and
rod-like structures. These morphologic abnormalities are believed to be the
result of an inherited metabolic abnormality of the red cells.
3. The urinary pigments were found to have properties which were similar
to mesobilifuscin. It is believed that these pigments possessed a dipyrrolic
structure and were derived from erythrocyte catabolism.
4. Transfusion of the patient’s erythrocytes into a normal recipient resulted
in rapid removal of the heterologous cells from the circulation and in excretion of similar dark pigments in the urine.
Submitted on November 4, 1958
Accepted on November 30, 1958
