Autosomal recessive sideroblastic anemia
ORPHA:260305· ICD-10 D64.0
Definition
Congenital autosomal recessive sideroblastic anemia (ARSA) is a non-syndromic, microcytic/hypochromic sideroblastic anemia, present from early infancy and characterized by severe microcytic anemia, which is not pyridoxine responsive, and increased serum ferritin.
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal