MeSH Browser

MeSH Supplementary: X-linked sideroblastic anemia
Unique ID: C536761
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C536761
Entry Term(s): Anemia, Hereditary Sideroblastic; Anemia, Sex-Linked Hypochromic Sideroblastic; Anemia, Sideroblastic, X-Linked; Congenital Sideroblastic Anaemia; Erythroid 5-Aminolevulinate Synthase Deficiency; Hereditary Iron-Loading Anemia; X Chromosome-Linked Sideroblastic Anemia; X-Linked Pyridoxine-Responsive Sideroblastic Anemia
Registry Number: 0
Heading Mapped to: *Anemia, Sideroblastic; *Genetic Diseases, X-Linked
Frequency: 325
Note: A hereditary X-linked recessive sideroblastic anemia with variable age of onset and severity. It is characterized by (1) hypochromic microcytic anemia with microcytic and normocytic populations of RED BLOOD CELLS, (2) marrow ringed sideroblasts, particularly prominent in the late erythroid precursors, (3) a variable hematologic response to pharmacologic doses of PYRIDOXINE, and (4) systemic iron overload secondary to chronic ineffective ERYTHROPOIESIS. Mutations in the ALAS2 gene have been identified. OMIM: 300751
Date of Entry: 2010/08/25
Revision Date: 2015/08/18

X-linked sideroblastic anemia MeSH Supplementary Concept Data 2023