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Condition report · Hematological

Congenital Dyserythropoietic Anemia

Rare inherited conditions in which the bone marrow makes red blood cells that develop abnormally, leading to anaemia, jaundice and iron overload. They are often mistaken for thalassaemia or hereditary spherocytosis.

A condition report looks for rare variants known to cause the conditions it covers.

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The condition we analyse

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.

What a diagnosis changes

A diagnosis guides monitoring and treatment of iron overload, which can develop even without transfusions; interferon-alpha can help in type I.

Genes analysed

Also known as

anemia, congenital dyserythropoietic; CDA; congenital dyshaematopoietic anaemia; congenital dyshaematopoietic anemia

Includes 11 related subtypes ↓
  • 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
MONDO:0019403Orphanet 85MedGen 8064

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