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Sideroblastic anemia
- ... have been identified in people with X-linked sideroblastic anemia with ataxia. Each of these mutations changes a ... mitochondrial iron transporter gene (ABC7) in X-linked sideroblastic anemia and ataxia (XLSA/A). Hum Mol Genet. 1999 ...
- ... At least 50 mutations that cause X-linked sideroblastic anemia have been identified in the ALAS2 gene. Almost ... lead to the characteristic features of X-linked sideroblastic anemia. More About This Health Condition 5-aminolevulinate synthase, ...
- ... severity of the iron overload in X-linked sideroblastic anemia when it is inherited along with a mutation ... more severe signs and symptoms of X-linked sideroblastic anemia by further increasing the absorption of dietary iron, ...
- ... systems. Features can include a blood disorder called sideroblastic anemia, recurrent fevers, a shortage of immune cells called ... M, Fleming MD. Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD). Blood. ...