Hemoglobin M disease

Orpha code: 330041OMIM code: 617973

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.

Disease data
Classification

Disease

Synonyms
M hemoglobinopathy
Choroba hemoglobiy M
Dziedziczna methemoglobinemia z powodu mutacji hemoglobiny
Hemoglobinopatia M
ORPHA code
330041
OMIM code
617973
ICD10 code
D74.0
ICD11 code
-

No additional description.

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