An unusual type of congenital dyserythropoietic anemia with thalassemia features.
A 25-year-old male patient of Kurdish Jewish origin presented with mild anemia and splenomegaly. The acidified serum test was strongly positive with three of four normal sera and the anti-i agglutination of the red cells was negative. Hemoglobin electrophoresis showed an increase of Hb A2 (3.4%). Blood smears showed changes compatible with thalassemia. On bone marrow examination, approximately 3% of the normoblasts showed changes typical of dyserythropoiesis, including binucleated orthochromatic normoblasts and large trinucleated and quadrinucleated megaloblasts. Ultrastructural studies of the bone marrow cells revealed characteristic features of congenital dyserythropoietic anemia, including irregular cytoplasmic pseudopodia, perinuclear cisternae, intrusion of cytoplasmic material into the nucleus and incomplete cytoplasmic cisternae.
D000328:Adult; D000741:Anemia, Aplastic / Q000097:blood / Q000151:congenital* / Q000473:pathology; D001853:Bone Marrow / Q000648:ultrastructure; D004900:Erythroblasts / Q000648:ultrastructure; D004912:Erythrocytes / Q000648:ultrastructure; D004920:Erythropoiesis; D005006:Ethnicity; D006801:Humans; D007557:Israel; D007585:Jews; D008297:Male; D013789:Thalassemia / Q000097:blood*