1 Department of Pediatrics, University of Pennsylvania School of Medicine, and the Children's Hospital of Philadelphia
Two children with congenital dyserythropoietic anemia type II, are described and contrasted. This recently recognized disorder of unknown pathogenesis is characterized by variable degrees of anemia, splenomegaly, and jaundice. Diagnosis was established by the demonstration of erythroid hyperplasia and erythroblastic multinuclearity in the bone marrow, and a positive acidified serum test.
Erythrokinetic studies revealed a significant degree of ineffective erythropoiesis. One of the patients demonstrated Gaucher cells in the marrow as a presumed consequence of the increased rate of red blood cell destruction. Means of distinguishing this autosomal recessive disorder from other refractory anemias is discussed.
Submitted on May 19, 1972