Conditions / Genetic
Diamond-Blackfan anemia 12
info · Genetic
A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL15 gene on chromosome 3p24.2.
Signs and symptoms
- Triphalangeal thumb
- Ventricular septal defect
- Elevated red cell adenosine deaminase activity
- Reticulocytopenia
- Macrocytic anemia
- Normochromic anemia
Also known as: DBA12; RPL15-related Diamond-Blackfan anemia