congenital dyserythropoietic anemia

Congenital dyserythropoietic anemia

Congenital dyserythropoietic anemia (CDA) is an umbrella term used to denote a group of rare blood disorders which share some characteristics. All have genetic origin, usually inherited from parents; and they are characterised by a partial failure of the bone marrow to produce healthy red blood cells. This in turn leads to anemia which in some cases can be severe. Symptoms of CDA depend on the type and its severity; they can include tiredness, weakness, and jaundice. In some cases the liver or spleen may become enlarged. CDA may also cause the body to absorb too much iron, leading to damage of other organs. Four types of CDA are generally recognised, designated as CDA-1, CDA-2, CDA-3 and CDA-4. Other variants have been described; each type has a distinct genetic cause and identifiable changes in the bone marrow. Exact diagnosis of the disease requires microscopic examination of a bone marrow sample, followed by genetic sequencing. Mild cases may need no treatment. Severe cases must be managed by regular blood transfusions; stem cell transplantation from a well matched donor is also possible.As of 2024, fewer than a thousand cases of CDA have been described worldwide; prevalence in Europe is fewer than 1 case per million. The term congenital dyserythropoietic anemia was coined in 1968 when three types (CDA-1, CDA-2 and CDA-3) were included in the group.