title: A case of congenital dyserythropoietic anemia type II associated with hemochromatosis.
abstract: A 54-year-old woman with anemia, diabetes mellitus and liver dysfunction was admitted to our hospital. Numerous binucleated erythroblasts in the bone marrow, a positive serum acidified test, and the presence of anti I and anti i antigens on the surface of her erythrocytes indicated that she had congenital dyserythropoietic anemia (CDA) Type II. Hemochromatosis was confirmed by a liver biopsy. This case is a sibling of a patient with CDA Type II reported by Omine et al in 1981 (Acta Haematol Jpn 44:1). They report that no physical or hematological abnormalities were found when she was examined at the age of 29 years. Twenty-five years later, she developed CDA Type II and hemochromatosis. This case indicates that long-term observation of the family members of a patient with CDA Type II is necessary.
authors.affiliation: Fourth Department of Internal Medicine, Saitama Medical School, Kawagoe, Japan.
authors.forename: H
authors.initials: H
authors.lastname: Tamura
authors.forename: G
authors.initials: G
authors.lastname: Matsumoto
authors.forename: Y
authors.initials: Y
authors.lastname: Itakura
authors.forename: H
authors.initials: H
authors.lastname: Terai
authors.forename: K
authors.initials: K
authors.lastname: Ikebuchi
authors.forename: T
authors.initials: T
authors.lastname: Mitarai
authors.forename: K
authors.initials: K
authors.lastname: Isoda
mesh_terms: D000742:Anemia, Dyserythropoietic, Congenital / Q000145:classification / Q000150:complications* / Q000235:genetics; D000954:Antigens, Surface; D001853:Bone Marrow / Q000473:pathology; D004900:Erythroblasts / Q000473:pathology; D004910:Erythrocyte Membrane / Q000276:immunology; D005260:Female; D006432:Hemochromatosis / Q000150:complications* / Q000175:diagnosis; D006801:Humans; D008099:Liver / Q000473:pathology; D008875:Middle Aged
chemical_list: D000954:Antigens, Surface