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A new congenital dyserythropoietic anaemia
Author(s) -
Ohisalo Jorma J.,
Viitala Juha,
Lintula Riitta,
Ruutu Tapani
Publication year - 1988
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/j.1365-2141.1988.tb04187.x
Subject(s) - agglutination (biology) , red cell , bone marrow , bilirubin , medicine , ineffective erythropoiesis , immunology , chemistry , biology , anemia , erythropoiesis , antibody
Summary 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.