title: Aberrant congenital dyserythropoietic anemia with negative acidified serum tests and features of thalassemia in a Kurdish family.
abstract: Three siblings of a Kurdish Jewish family with clinical and hematologic findings compatible with congenital dyserythropoietic anemia (CDA) are described. All patients presented with mild anemia, marked hyperbilirubinemia and splenomegaly. The bone marrow morphology and ultrastructure of the normoblasts was typical of CDA type II and there was strong agglutination of the patients' red blood cells by anti-i serum. These patients displayed two features that were not characteristic of CDA type II, namely, the acidified serum lysis test was negative on more than 10 occasions, and high levels of Hb A2 were observed in two siblings. In one of the siblings, abnormal globin-chain synthesis was found and alpha-chain production exceeded beta-chain production, as in beta-thalassemia minor. In the light of the above findings, our patients are perhaps best classified as having aberrant CDA with features of thalassemia.
mesh_terms: D000328:Adult; D000741:Anemia, Aplastic / Q000097:blood* / Q000151:congenital / Q000473:pathology; D001853:Bone Marrow / Q000648:ultrastructure; D004900:Erythroblasts / Q000648:ultrastructure; D004920:Erythropoiesis; D005006:Ethnicity; D005260:Female; D005914:Globins / Q000032:analysis; D006461:Hemolysis; D006801:Humans; D007557:Israel; D007585:Jews; D008297:Male; D013789:Thalassemia / Q000097:blood* / Q000473:pathology
chemical_list: D005914:Globins