Conditions / Genetic
Diamond-blackfan anemia 3
info · Genetic
A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS24 gene on chromosome 10q22.3.
Signs and symptoms
- Elevated red cell adenosine deaminase activity
- Persistence of hemoglobin F
- Increased mean corpuscular volume
- Reticulocytopenia
- Macrocytic anemia
- Webbed neck
Also known as: DBA3; RPS24-related Diamond-Blackfan anemia