HEREDITARY ELLIPTOCYTOSIS ASSOCIATED WITH INCREASED HEMOLYSIS

[摘要] Three cases of hereditary elliptocytosis have been presented. The criteria for diagnosis have been (1) the presence of a high percentage of elongated cells in stained smears and wet preparations, and (2) the finding of elongated cells in other members of the family including one parent in each case.All 3 children had a marked anemia when first seen. Case 1 had an outspoken hemolytic anemia at 2 months of age. His hemoglobin is now practically normal, but he still has a slight but persistent reticulocyte increase. Cases 2 and 3 were first thought to be due to iron deficiency anemia. While iron deficiency may have been responsible for the degree of anemia that brought the cases under observation, a slight but persistent elevation in both reticulocyte count and stool urobilin concentration indicated the presence of increased hemolysis. The findings of a shortened erythrocyte life span in Case 3 supports this conclusion.A review of the literature makes it clear that hereditary elliptocytosis is a potentially hemolytic disease. However, in the great majority of the cases the elliptocytosis appears as a harmless anomaly without pathological significance. In a certain number, to which considerable attention is now being paid, there may be a hemolytic anemia sometimes of a severity sufficient to require splenectomy. Between these 2 extremes there lies an indeterminate group in which there is evidence of hemolysis if one looks for it, in which there may or may not be anemia, and in which it is not always easy to know if the patient's symptoms are part of the disease. It is to this group that our patients belong.

[学科分类] 儿科学