Autosomal recessive sideroblastic anemia
Autosomal recessive sideroblastic anemia
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.
Also known as ARSA, sideroblastic anemia, autosomal recessive — per MONDO