Bleeding disorder in hemophilia A carriers
ORPHA:177926· ICD-10 D66
Definition
A rare bleeding disorder in association with carrier mutations in the F8 gene (Xq28) encoding coagulation factor VIII (FVIII), with a biological activity of FVIII ≥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.
- Prevalence
- Unknown
- Inheritance
- X-linked recessive
- Age of onset
- All ages