Congenital dyserythropoietic anemia

Congenital dyserythropoietic anemia, or CDA, is an umbrella term for a group of rare inherited blood disorders in which the bone marrow only partly succeeds in producing healthy red blood cells, leading to anemia that can be severe. Symptoms depend on the type and severity and can include tiredness, weakness and jaundice, with an enlarged liver or spleen in some patients. The body may also absorb too much iron, which can damage other organs. Four types, CDA-1 to CDA-4, are generally recognised, each with its own genetic cause and bone marrow changes, and diagnosis needs a bone marrow sample examined under a microscope followed by genetic sequencing. Mild cases may need no treatment, while severe cases are managed with regular transfusions or stem cell transplantation. The name was coined in 1968, and fewer than a thousand cases had been described by 2024.