sideroblastic anemia 1 (DOID:0060063)
Alliance: disease page
Synonyms: sideroblastic anaemia 1; X-linked sideroblastic anaemia; X-linked sideroblastic anemia; XLSA
Alt IDs: OMIM:300751
Definition: A sideoblastic anemia that is characterized by the presence of microcytic hypochromic anemia and iron overload, and has_material_basis_in X-linked inheritance of mutation in the ALAS2 gene that enocdes aminolevulinic acid synthase that catalyzes the first step in heme production.