A new congenital dyserythropoietic anaemia.
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.
Ohisalo
J J
JJ
III Department of Medicine, University Central Hospital, Helsinki, Finland.
Viitala
J
J
Lintula
R
R
Ruutu
T
T
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
D008055:Lipids; D001663:Bilirubin