Preferred Label : Dyserythropoiesis, congenital, with ultrastructurally normal erythroblast heterochromatin;
Type : Other, mainly phenotypes with suspected mendelian basis;
Description : The congenital dyserythropoietic anemias (CDAs) are an uncommon and heterogeneous
group of conditions characterized by increased ineffective erythropoiesis and, usually,
dysplastic changes in erythroblasts. Originally, 3 types of CDA were recognized and
designated CDA type I (224120), type II (224100), and type III (105600). Subsequently,
a number of other types were described, as reviewed by Wickramasinghe (1997). The
defining features of CDA type I are autosomal recessive inheritance, macrocytes in
the peripheral blood, internuclear chromatin bridges connecting some almost completely
separated erythroblasts, and an abnormal ultrastructural appearance (spongy or 'swiss-cheese'
appearance) of the heterochromatin in a high proportion of the erythroblasts.;
Inheritance : Autosomal dominant;
Prefixed ID : 603529;
Origin ID : 603529;
UMLS CUI : C3807235;
CISMeF manual mappings
- HPO term(s)
- Semantic type(s)
