Anemia, sideroblastic, 1

Preferred Label : Anemia, sideroblastic, 1;

Symbol : SIDBA1;

CISMeF acronym : ANH1; SIDBA1; XLSA;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Anemia, hereditary sideroblastic; Anemia, hypochromic; ANH1; Anemia, sideroblastic, X-linked; XLSA; Hereditary iron-loading anemia;

Description : The essential features of X-linked sideroblastic anemia include the following: (1) a hypochromic microcytic anemia and 2 discrete populations of red blood cells, one microcytic and the other normocytic; (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. The age of clinical onset of the disorder can vary from in utero to the ninth decade. Whereas males are preferentially affected, females may present with clinically severe anemia. More commonly, female carriers of the disease have an increased red blood cell distribution width and sometimes erythrocyte dimorphism (Fleming, 2002).;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the delta-aminolevulinate synthase 2 gene (ALAS2, 301300.0001);

Laboratory abnormalities : Low hemoglobin;

Prefixed ID : #300751;

Details

Origin ID

300751;

UMLS CUI

C4551511;

Automatic exact mappings (from CISMeF team)
- ANAEMIA HYPOCHROMIC [WHO-ART Preferred Term]
- Anaemia hypochromic [MedDRA LLT]
- Anemia hypochromic [MedDRA LLT]
- Hereditary Sideroblastic Anemia [NCIt concept]
- Hereditary sideroblastic anaemia [ICD-10 Sub-category (who)]
- Hereditary sideroblastic anaemia [MedDRA Preferred Term]
- Hereditary sideroblastic anemia [ICD-10 Sub-category]
- Hereditary sideroblastic anemia [MedDRA LLT]
- Hereditary sideroblastic anemia (disorder) [Inactive SNOMED CT concept]
- Hypochromic Anemia [NCIt concept]
- Hypochromic anaemia [MedDRA Preferred Term]
- Hypochromic anemia [HPO term]
- Hypochromic anemia [MedDRA LLT]
- Normocytic hypochromic anemia (disorder) [SNOMED CT concept]
- anemia, hypochromic [MeSH Descriptor]
- anemia, hypochromic [MeSH concept]
- anemia, sideroblastic spinocerebellar ataxia [MeSH Supplementary Concept]
- hereditary sideroblastic anemia, nos [SNOMED Notion]
- hypochromic anemia [DO Concept]
Broader ORDO disease(s)
- Constitutional sideroblastic anemia [ORDO Disease]
Currated CISMeF NLP mapping
- X chromosome-linked sideroblastic anemia (disorder) [SNOMED CT concept]
- X-linked sideroblastic anemia [MeSH concept]
- X-linked sideroblastic anemia [MeSH Supplementary Concept]
- X-linked sideroblastic anemia [ORDO Disease]
- sideroblastic anemia 1 [DO Concept]
- x chromosome-linked sideroblastic anemia, nos [SNOMED Notion]
DO Cross reference
- sideroblastic anemia 1 [DO Concept]
Genes related to phenotype
- Delta-aminolevulinate synthase 2 [OMIM gene]
HPO term(s)
- Anemia of inadequate production [HPO term]
- Hypochromic microcytic anemia [HPO term]
- Macrocytic anemia [HPO term]
- Sideroblastic anemia [HPO term]
- Variable expressivity [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- Sideroblastic anemia [ORDO Disease]
- X-linked sideroblastic anemia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Constitutional sideroblastic anemia [ORDO Disease]
- Hereditary Sideroblastic Anemia [NCIt concept]
- Hereditary sideroblastic anaemia [MedDRA Preferred Term]
- Hereditary sideroblastic anaemia [ICD-10 Sub-category (who)]
- Hereditary sideroblastic anemia [MedDRA LLT]
- Hereditary sideroblastic anemia [ICD-10 Sub-category]
- Hereditary sideroblastic anemia (disorder) [Inactive SNOMED CT concept]
- X chromosome-linked sideroblastic anemia (disorder) [SNOMED CT concept]
- X-linked sideroblastic anemia [MeSH concept]
- X-linked sideroblastic anemia [ORDO Disease]
- X-linked sideroblastic anemia [MeSH Supplementary Concept]
- hereditary sideroblastic anemia, nos [SNOMED Notion]
- sideroblastic anemia 1 [DO Concept]
- x chromosome-linked sideroblastic anemia, nos [SNOMED Notion]
Validated automatic mappings to NTBT
- hypochromic anemia [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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