1986 Volume 27 Issue 3 Pages 338-343
A Japanese girl with congenital stomatocytosis with severe hemolytic anemia is reported. Her mother was well and had no drugs during her gestation. The patient was born uneventfully and a mild neonatal jaundice of which peak serum total bilirubin was 9.6 mg/dl on three days of age. She had been noticed to have a pale face since two weeks of age, but had no complaints. Severe anemia had been pointed out and she has admitted to the Yamato City Hospital for further examinations and treatment.
On physical examination, she had anemia, hepatosplenomegaly, but no jaundice. Laboratory data revealed stomatocytes 60∼80% on peripheral blood film, RBC 1.93 106/μl, Hb 5.4 g/dl, Ht 16.0%, reticulocytes 21.0%, erythroid hyperplasia in bone marrow, serum total bilirubin 3.9 mg/dl (indirect bilirubin 3.7 mg/dl), negative Coombs' test, normal enzyme activities of red cells, and normal electrophoretic pattern of hemoglobin. The extraordinary points of data were normal sodium influx and efflux, and normal cation contents of red cells inspite of increased osmotic fragility of red cells.
This case seems to be a new type of stomatocytosis.
