title: A new congenital dyserythropoietic anaemia.
abstract: A new dominantly inherited dyserythropoietic anaemia is described. In the bone marrow, many of the nonspecific morphological characteristics described in congenital dyserythropoietic anaemias were seen; however, dysmorphic cells were rare. The acidified serum test was positive with one out of 17 sera tested; the negative sera included two that had haemolysed HEMPAS erythrocytes in the acid Ham test. Anti-i-agglutination was negative. No aberrations of red cell membrane protein glycosylation were observed. Serum cholesterol was low. Bilirubin conjugation was deficient but icterus was resolved by treatment with phenobarbital.
authors.affiliation: III Department of Medicine, University Central Hospital, Helsinki, Finland.
authors.forename: J J
authors.initials: JJ
authors.lastname: Ohisalo
authors.forename: J
authors.initials: J
authors.lastname: Viitala
authors.forename: R
authors.initials: R
authors.lastname: Lintula
authors.forename: T
authors.initials: T
authors.lastname: Ruutu
mesh_terms: D000328:Adult; D000742:Anemia, Dyserythropoietic, Congenital / Q000097:blood / Q000378:metabolism / Q000473:pathology*; D000745:Anemia, Hemolytic, Congenital / Q000473:pathology*; D001663:Bilirubin / Q000378:metabolism; D001853:Bone Marrow / Q000473:pathology; D004910:Erythrocyte Membrane / Q000032:analysis; D005260:Female; D006801:Humans; D008055:Lipids / Q000097:blood
chemical_list: D008055:Lipids; D001663:Bilirubin