Anemia, Diamond-Blackfan

Diamond-Blackfans anemi

Svensk definition

En sällsynt, medfödd, hypoplastisk anemi som oftast debuterar i tidig barndom. Sjukdomen kännetecknas av måttlig till svår makrocytisk anemi, fall av neutropeni eller trombocytos, cellulärt normal benmärg med erytroid hypoplasi samt ökad risk för leukemi.

Engelsk definition

A rare congenital hypoplastic anemia that usually presents early in infancy. The disease is characterized by a moderate to severe macrocytic anemia, occasional neutropenia or thrombocytosis, a normocellular bone marrow with erythroid hypoplasia, and an increased risk of developing leukemia. (Curr Opin Hematol 2000 Mar;7(2):85-94)

Svenska synonymer

Inga svenska synonymer finns.

Engelska synonymer

Anemia, Diamond Blackfan Anemia, Diamond-Blackfan Type Anemia, Diamond Blackfan Type Diamond-Blackfan Type Anemia Blackfan-Diamond Syndrome Blackfan Diamond Syndrome Diamond-Blackfan Anemia Diamond Blackfan Anemia Erythrogenesis Imperfecta Erythrogenesis Imperfectas Imperfecta, Erythrogenesis Imperfectas, Erythrogenesis Red Cell Aplasia, Pure, Hereditary Blackfan Diamond Anemia Anemia, Blackfan Diamond Diamond Anemia, Blackfan Blackfan-Diamond Disease Blackfan Diamond Disease Disease, Blackfan-Diamond Chronic Congenital Agenerative Anemia Congenital Erythroid Hypoplastic Anemia Congenital Hypoplastic Anemia of Blackfan and Diamond Congenital Pure Red Cell Anemia Congenital Pure Red Cell Aplasia Hypoplastic Congenital Anemia Anemia, Hypoplastic Congenital Anemias, Hypoplastic Congenital Congenital Anemia, Hypoplastic Congenital Anemias, Hypoplastic Hypoplastic Congenital Anemias Inherited Erythroblastopenia Erythroblastopenia, Inherited Erythroblastopenias, Inherited Inherited Erythroblastopenias Pure Hereditary Red Cell Aplasia Anemia, Congenital Hypoplastic, Of Blackfan And Diamond