Первинна сімейна поліцитемія
ORPHA:90042· ICD-10 D75.0· Primary familial polycythemia
Визначення(English summary)
Primary familial polycythemia is an inherited hematological disorder resulting from mutations in the erythropoietin (EPO) receptor and is characterized by an elevated absolute red blood cell mass caused by uncontrolled red blood cell production in the presence of low EPO levels.
- Поширеність
- Unknown
- Успадкування
- Autosomal dominant
- Вік початку
- All ages