Test Database

Description

Analysis of the F9gene by PCR amplification and sequencing of the coding region and splice junctions is the gold standard approach. Dosage analysis, via MLPA, is available as a second line test where gross deletions/ insertions are suspected.

Clinical details

Haemophilia B is an X-linked bleeding disorder of variable severity, the result of facotr IX deficiency. Severe deficiency of factor IX clotting activity is associated with spontaneous joint or deep tissue bleeding. Moderate or mild deficiency is associated with prolonged bleeding after tooth extractions, surgery, or injuries and recurrent or delayed wound healing. Haemophilia B is caused by defects in the F9 gene and has a world-wide incidence of approximately 1 in 25000 live male births.

Related condition

Severe Haemophilia B Moderate Haemophilia B Mild Haemophilia B Haemophilia B Leydon Haemophilia B carrier (females) Potential differential diagnosis: Vitamin K deficiency. Vitamin K-dependent clotting factor deficiency (VKCFD).

Reference range

n/a

Units

n/a

Synonyms

F9 Haemophilia B Factor IX deficiency Christmas Disease X-linked bleeding

Testing site

Synnovis : Genomics : St Thomas' Hospital

Laboratory

Molecular Haemostasis