/autosomal recessive sideroblastic anemia

autosomal recessive sideroblastic anemia

Rare Disease

MONDO:0016828

Also Known As

congenital sideroblastic anaemiacongenital sideroblastic anemiaARSAsideroblastic anemia, autosomal recessive

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.