Autosomal recessive sideroblastic anemia

MONDO:0016828

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: congenital sideroblastic anaemia, congenital sideroblastic anemia, ARSA, sideroblastic anemia, autosomal recessive

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