[Congenital aplastic anemia, type I].
Case report of a 7 year old girl, anaemic since birth. The anaemia, of variable intensity, is associated with a moderate reticulocytosis. Bone marrow films, show a marked erythroblastosis with conspicuous morphological abnormalities and internuclear chromatin bridges. The erythrocinetic pattern is that of ineffective erythropoiesis. The morphologic features are those of Heimpel and Wendt's type I congenital dyserythropoiesis. The erythrocytes are lysed by some acidified sera, thus showing a membrane anomaly which is unusual in type I. However the characteristics of the lysis are different from those of type II (HEMPAS) erythrocytes.
D000748:Anemia, Macrocytic / Q000151:congenital*; D000749:Anemia, Megaloblastic / Q000151:congenital* / Q000503:physiopathology; D002648:Child; D004798:Enzymes / Q000097:blood; D004912:Erythrocytes / Q000473:pathology; D004913:Erythrocytes, Abnormal; D004920:Erythropoiesis; D005260:Female; D006801:Humans
D004798:Enzymes
Anemie dyserythropoietique congenitale, type I