Term Name: | sideroblastic anemia 1 |
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Synonyms: | sideroblastic anaemia 1, X-linked sideroblastic anaemia, X-linked sideroblastic anemia, XLSA |
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. |
Ontology: | Human Disease [DOID:0060063] ( DOID:0060063 ) |