Conditions / Genetic
Diamond-Blackfan anemia 18
info · Genetic
A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL18 gene on chromosome 19q13.33.
Signs and symptoms
- Erythroid hypoplasia
- Steroid-responsive anemia
- Decreased total neutrophil count
- Granulocytic hypoplasia
Also known as: DBA18; RPL18-related Diamond-Blackfan anemia