Congenital dyserythropoietic anaemia (type II) presenting with haemosiderosis.
A 39-year-old female with type II congenital dyserythropoiesis presented with iron overload. The clinical and haematologic features were an anaemia of variable severity, splenomegaly, numerous bizarre and binucleate normoblasts in the bone marrow, with prominent submembranous cisternae in the late forms, a positive Ham's acid lysis test and aberrant expression of the I and i red cell antigens. The iron overload resulted from gross ineffective erythropoiesis, with accelerated plasma iron turnover and increased absorption aggravated by inappropriate replacement therapy for past episodes of anaemia.
D000328:Adult; D000742:Anemia, Dyserythropoietic, Congenital / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D000745:Anemia, Hemolytic, Congenital / Q000175:diagnosis*; D000937:Antigen-Antibody Reactions; D001773:Blood Cells / Q000473:pathology; D001853:Bone Marrow / Q000473:pathology; D003937:Diagnosis, Differential; D005260:Female; D006486:Hemosiderosis / Q000175:diagnosis*; D006801:Humans; D008854:Microscopy, Electron; D010375:Pedigree