HEREDITARY NONSPHEROCYTIC HEMOLYTIC ANEMIA

Abstract

Abstract 1. An hereditary hemolytic anemia is described which is normocytic and normochromic, transmitted as a mendelian dominant and not cured by splenectomy. In the family studied, the anemia was associated but not genetically linked with brachyphalangia. Acute idiopathic porphyria may also have been associated. All anemic members were of blood group A. 2. Neither the degree of anemia nor the rate of hemolysis was favorably influenced by splenectomy. 3. Various studies of erythrocyte fragility and hemoglobin metabolism are presented. 4. Although the red cells in this anemia were more resistant to fragility tests in vitro than the red cells of hereditary spherocytosis, they were more rapidly destroyed in vivo. 5. The disease is differentiated from other hereditary and hemolytic anemias. Of the hereditary anemias, this disease seems most closely to resemble hereditary spherocytosis. Yet the differences of cellular survival in vivo and in vitro and the failure of splenectomy in hereditary nonspherocytic hemolytic anemia suggest a difference in the hemolytic mechanism. 6. The demonstration of porphobilinogen in this patient suggests a possible relationship of this hereditary hemolytic anemia to hereditary porphyria.