Важка форма гемофілії В
ORPHA:169793· ICD-10 D67· Severe hemophilia B
Визначення(English summary)
A severe form of hemophilia B characterized by a large deficiency of factor IX (biological activity <1 IU/dL) leading to frequent spontaneous hemorrhage and abnormal bleeding as a result of minor injuries or following trauma, surgery or tooth extraction. It primarily affects males but may also be observed in female carriers of disease-causing mutations.
- Поширеність
- 1-9 / 1 000 000
- Успадкування
- X-linked recessive
- Вік початку
- Infancy, Neonatal