Hemoglobin M disease
ORPHA:330041· ICD-10 D74.0
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.
- Prevalence
- Unknown
- Inheritance
- Autosomal dominant
- Age of onset
- No data available