Pagon syndrome

Pagon syndrome Congenital anemia with spinocerebellar ataxia (wobbliness) that becomes apparent by age 1. The anemia is characterized by sideroblasts (iron-rich precursors of red blood cells) seen on a blood smear. The syndrome is inherited in an X-linked recessive manner and is due to mutation in the ABC gene that encodes a protein that localizes to the mitochondrial inner membrane and is involved in iron homeostasis. Also known as “anemia, sideroblastic, and spinocerebellar ataxia,” or ASAT. See also anemia.