Term Name: sideroblastic anemia 1
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 )

Relationships
is a type of: sideroblastic anemia X-linked recessive disease