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.
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)
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Anemia, Diamond Blackfan — Blackfan-Diamond Disease — Blackfan Diamond Disease — Disease, Blackfan-Diamond — 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 — Diamond-Blackfan Anemia — Diamond Blackfan Anemia — Anemia, Diamond-Blackfan Type — Anemia, Diamond Blackfan Type — Diamond-Blackfan Type Anemia — Blackfan-Diamond Syndrome — Blackfan Diamond Syndrome — Erythrogenesis Imperfecta — Erythrogenesis Imperfectas — Imperfecta, Erythrogenesis — Imperfectas, Erythrogenesis — Red Cell Aplasia, Pure, Hereditary — Anemia, Congenital Hypoplastic, Of Blackfan And Diamond — Blackfan Diamond Anemia — Anemia, Blackfan Diamond — Diamond Anemia, Blackfan — Chronic Congenital Agenerative Anemia — Congenital Erythroid Hypoplastic Anemia