Congenital dyserythropoietic anaemia type II: a case study. 2002

E De Laere, and A Louwagie, and A Criel
Laboratorium Hematologie, A.Z. Sint-Jan, Ruddershove 10, B-8000 Brugge.

A 13-year-old girl with chronic anaemia showed features of congenital dyserythropoietic anaemia (CDA) type II. The main clinical and haematological findings were splenomegaly, a mild microcytic anaemia, and numerous bizarre and binucleate normoblasts in the bone marrow. The acidified serum lysis test (Ham's test) performed with 5 normal sera was positive. The patient's red blood cells showed a markedly increased expression of the i red blood cell antigen.

UI MeSH Term Description Entries
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000293 Adolescent A person 13 to 18 years of age. Adolescence,Youth,Adolescents,Adolescents, Female,Adolescents, Male,Teenagers,Teens,Adolescent, Female,Adolescent, Male,Female Adolescent,Female Adolescents,Male Adolescent,Male Adolescents,Teen,Teenager,Youths
D000742 Anemia, Dyserythropoietic, Congenital A familial disorder characterized by ANEMIA with multinuclear ERYTHROBLASTS, karyorrhexis, asynchrony of nuclear and cytoplasmic maturation, and various nuclear abnormalities of bone marrow erythrocyte precursors (ERYTHROID PRECURSOR CELLS). Type II is the most common of the 3 types; it is often referred to as HEMPAS, based on the Hereditary Erythroblast Multinuclearity with Positive Acidified Serum test. Dyserythropoietic Anemia, Congenital,HEMPAS,Anemia With Multinucleated Erythroblasts,Anemia, Congenital Dyserythropoietic,Anemia, Congenital Dyserythropoietic, Type II,Anemia, Dyserythropoietic Congenital, Type I,Anemia, Dyserythropoietic Congenital, Type II,Anemia, Dyserythropoietic Congenital, Type III,Anemia, Dyserythropoietic, Congenital Type 1,Anemia, Dyserythropoietic, Congenital Type 2,Anemia, Dyserythropoietic, Congenital, Type I,Anemia, Dyserythropoietic, Congenital, Type II,Anemia, Dyserythropoietic, Congenital, Type III,Congenital Dyserythropoietic Anemia,Congenital Dyserythropoietic Anemia Type 1,Congenital Dyserythropoietic Anemia Type II,Congenital Dyserythropoietic Anemia, Type I,Congenital Dyserythropoietic Anemia, Type III,Dyserythropoietic Anemia, Congenital Type 1,Dyserythropoietic Anemia, Congenital Type 2,Dyserythropoietic Anemia, Congenital, Type I,Dyserythropoietic Anemia, Congenital, Type II,Dyserythropoietic Anemia, Congenital, Type III,Dyserythropoietic Anemia, HEMPAS Type,HEMPAS Anemia,Hereditary Erythroblast Multinuclearity with Positive Acidified Serum,Hereditary Erythroblastic Multinuclearity with Positive Acidified-Serum Test,Type I Congenital Dyserythropoietic Anemia,Anemias, Congenital Dyserythropoietic,Congenital Dyserythropoietic Anemias,Dyserythropoietic Anemias, Congenital,HEMPAS Anemias

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