Hemofili B, alvorlig grad
Engelsk navn: Severe hemophilia B
Engelske synonym: Severe congenital F9 deficiency,Severe congenital factor IX deficiency
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.
Klassifiseringsnivå: Subtype of disorder