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X-linked sideroblastic anemia and ataxia

Disease definition

X-linked sideroblastic anemia and ataxia (XLSA-A) is a rare syndromic, inherited form of sideroblastic anemia (see this term) characterized by mild to moderate anemia (with hypochromia and microcytosis) and early-onset, non- or slowly progressive spinocerebellar ataxia.

ORPHA:2802

  • Synonym(s):
    • Pagon-Bird-Detter syndrome
    • X-linked sideroblastic anemia with ataxia
    • XLSA-A
  • Prevalence: <1 / 1 000 000
  • Inheritance: X-linked recessive 
  • Age of onset: Infancy, Childhood
  • ICD-10: D64.0
  • OMIM: 301310
  • UMLS: C1845028
  • MeSH: -
  • GARD: 668
  • MedDRA: -

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