Congenital Dyserythropoietic Anaemia
A group of conditions (types I to IV and related forms) caused by changes in genes such as CDAN1, CDIN1, SEC23B, KIF23, KLF1 and GATA1, mostly inherited recessively, with some dominant forms.
Co se diagnózou změní
A diagnosis guides monitoring and treatment of iron overload, which can develop even without transfusions; interferon-alpha can help in type I.
Známé také jako
anemia, congenital dyserythropoietic; CDA; congenital dyshaematopoietic anaemia; congenital dyshaematopoietic anemia
Zahrnuje 11 příbuzných podtypů ↓Skrýt podtypy ↑
- anemia, congenital dyserythropoietic, type 1a
- Anemia, congenital dyserythropoietic, type IIIb, autosomal recessive
- anemia, congenital dyserythropoietic, type IVb
- congenital dyserythropoietic anemia type 1
- congenital dyserythropoietic anemia type 2
- congenital dyserythropoietic anemia type 3
- congenital dyserythropoietic anemia type 4
- congenital dyserythropoietic anemia type type 1B
- pancreatic insufficiency-anemia-hyperostosis syndrome
- thrombocytopenia with congenital dyserythropoietic anemia
- X-linked dyserythropoetic anemia with abnormal platelets and neutropenia
