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Methemoglobinemia, alpha type

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Description

Methemoglobinemia is a clinical condition in which more than 1% of hemoglobin is oxidized to methemoglobin, a type of hemoglobin that contains the ferric (Fe3+) form of iron. Patients with hemoglobin M are cyanotic but otherwise asymptomatic. If the mutation occurs in the hemoglobin alpha subunit, cyanosis is apparent at birth, whereas if the beta chain (141900) is affected, cyanosis appears later or intensifies when beta subunit production increases. If a newborn carries a fetal M hemoglobin (gamma subunit; 142250), cyanosis disappears when the complete gamma-beta-switch occurs (summary by Mansouri and Lurie, 1993).

OMIM

  • Mode of Inheritance

  • Autosomal dominant inheritance

VARIANTS

0

Genes

External Links

  • OMIM

    617973

  • Orphanet
  • HPO
  • Medgen

    C4693798

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