Catalog

Severe haemophilia B

No MMS code

Link to WHO Definition

Severe haemophilia B – http://id.who.int/icd/entity/1209364172

Severe haemophilia B is a form of haemophilia B (see this term) characterised by a large deficiency of factor IX leading to frequent spontaneous haemorrhage and abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction. Severe haemophilia B accounts for around 40% of all cases of haemophilia B. The biological activity of factor IX is below 1%. Transmission is X-linked recessive and the disorder is caused by mutations in the F9 gene (Xq28) encoding coagulation factor IX.