Orphanet: Hemoglobine M ziekte
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Hemoglobin M disease

Disease definition

A rare hemoglobinopathy characterized by the presence of hemoglobin variants with structural abnormalities in the globin portion of the molecule which lead to auto-oxidation of heme iron, resulting in methemoglobinemia. Patients present with cyanosis for which no treatment is necessary. Mode of inheritance is autosomal dominant.

ORPHA:330041

Classification level: Disorder
  • Synonym(s):
    • M hemoglobinopathy
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant 
  • Age of onset: -
  • ICD-10: D74.0
  • OMIM: 617971  617973
  • UMLS: -
  • MeSH: -
  • GARD: 13007
  • MedDRA: -
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