Severe hemophilia B
ORPHA:169793· ICD-10 D67
Definition
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.
- Prevalence
- 1-9 / 1 000 000
- Inheritance
- X-linked recessive
- Age of onset
- Infancy, Neonatal