Conditions / Genetic
Diamond-Blackfan anemia 4
info · Genetic
A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS17 gene on chromosome 15q25.2.
Signs and symptoms
- Erythroid hypoplasia
- Short stature
- Abnormal facial shape
- Reticulocytopenia
- Macrocytic anemia
- Atrial septal defect
- Growth delay
- Decreased total neutrophil count
Also known as: DBA4; RPS17-related Diamond-Blackfan anemia