Conditions / Genetic

sideroblastic anemia 1

info ยท Genetic

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

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.

Signs and symptoms

  • Hypochromic microcytic anemia
  • Anemia of inadequate production
  • Sideroblastic anemia
  • Asthenia
  • Anemic pallor
  • Macrocytic anemia

Also known as: X-linked sideroblastic anaemia; X-linked sideroblastic anemia; XLSA; sideroblastic anaemia 1