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Захворювання гемоглобіну М

ORPHA:330041· ICD-10 D74.0· Hemoglobin M disease

Визначення(English summary)

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.

Поширеність
Unknown
Успадкування
Autosomal dominant
Вік початку
No data available