Congenital hypoplastic anaemia with unusual dyserythropoietic features. A case report.
A case of severe congenital anaemia (Hb levels 3--4 g/dl) is presented. The patient, a 21-year-old female, requires, since the age of two, periodical blood transfusions, but is nevertheless able to lead a normal life as a housewife. Although the case has to be considered as a form of congenital hypoplastic disorder of the erythroid tissue, some of the clinical and haematological features are compatible with a congenital dyserythropoietic state. On the basis of clinical findings it is suggested that it may represent a previously undescribed form of anaemia which shares the features of both hypoplastic and dysplastic congenital affections of erythropoiesis.
D000328:Adult; D000741:Anemia, Aplastic / Q000151:congenital* / Q000473:pathology / Q000503:physiopathology; D001803:Blood Transfusion; D001853:Bone Marrow / Q000473:pathology; D003593:Cytoplasm / Q000648:ultrastructure; D004900:Erythroblasts / Q000648:ultrastructure; D004920:Erythropoiesis; D005260:Female; D006801:Humans