Порушення згортання крові у носіїв гемофілії В
ORPHA:177929· ICD-10 D67· Bleeding disorder in hemophilia B carriers
Визначення(English summary)
A rare bleeding disorder in association with carrier mutations in the F9 gene (Xq27.1) encoding coagulation factor IX (FIX), with a biological activity of FIX ≥40 IU/dL and characterized clinically by abnormal bleeding as a result of minor injuries or following trauma, surgery or tooth extraction. Spontaneous hemorrhages may occur occasionally. Heavy menstrual bleeding is the most frequent type of bleed in the carriers.
- Поширеність
- Unknown
- Успадкування
- X-linked recessive