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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