Type I congenital dyserythropoietic anaemia with myelopoietic abnormalities and hand malformations.
Type I dyserythropoietic anaemia was diagnosed in an infant, who presented with respiratory distress and hepatosplenomegaly soon after birth. Anaemia became manifest during the neonatal period. The case clearly proves the congenital nature of the disease. Abnormalities of the myelopoietic series indicate that it might be a stem cell disease and the presence of skeletal anomalies of the hands suggests a genetic relationship to some cases of Fanconi and Diamond anaemia. No serum lipid or vitamin E deficiency was present as in type II congenital dyserythropoietic anaemia. Serial serum ferritin determinations indicated that iron stores are increased early in type I congenital dyserythropoietic anaemia despite no transfusion load.
D000740:Anemia / Q000097:blood / Q000151:congenital*; D001854:Bone Marrow Cells; D001842:Bone and Bones / Q000002:abnormalities / Q000000981:diagnostic imaging; D004920:Erythropoiesis; D006225:Hand / Q000000981:diagnostic imaging; D006228:Hand Deformities, Congenital; D006801:Humans; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000097:blood; D007501:Iron / Q000097:blood; D007621:Karyotyping; D008297:Male; D011859:Radiography
D007501:Iron