X-linked Sideroblastic Anemia

About the Disease
Anemia, Sideroblastic, 1, also known as xlsa, is related to sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay and atransferrinemia. An important gene associated with Anemia, Sideroblastic, 1 is ALAS2 (5'-Aminolevulinate Synthase 2), and among its related pathways/superpathways are Metabolism and Transport of inorganic cations/anions and amino acids/oligopeptides. The drugs Levoleucovorin and Fludarabine have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, liver and bone, and related phenotypes are muscle weakness and fatigue

Common Targets
ALAS2

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