There is very strong evidence that DBA is inherited as an autosomal dominant with variable penetrance and expressivity.
- Red cell failure usually in a child younger than 1 year.
- Presence of congenital anomalies
- Cancer predisposition.
- Results from haploinsufficiency of either a small or large subunit-associated ribosomal protein.
- Anaemia within the first year of life
- Short stature was found in many patients
- Clinically significant anaemia at birth, and hydrops fetalis is rarely seen.
- FBC: macrocytic, or occasionally normocytic, anaemia with reticulocytopenia, essentially normal neutrophil and platelet counts
- fetal haemoglobin (HbF) level may be elevated
- Erythrocyte Adenosine deaminase (eADA) activity often elevated.
- Bone marrow: normocellular bone marrow with a paucity of erythroid precursors
- Genetics for the DBA genes
- Patient management is therefore centred on accurate diagnosis
- Appropriate use of transfusions and iron chelation to keep Hb 8 and 11 g/dL
- Corticosteroids given post transfusion
- Haematopoietic stem cell transplantation