Test Database

Description

Analysis of the F8gene 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. Analysis of common F8 inversion mutations is performed as a first line test on patients with a severe phenotype.

Clinical details

Haemophilia A is an X-linked bleeding disorder of variable severity. Severe deficiency of factor VIII 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 A has a world-wide incidence of approximately 1 in 5000 live male births.

Related condition

Severe Haemophilia A Moderate Haemophilia A Mild Haemophilia A Haemophiia A carrier (females) Differential diagnsosis: Type 2N von Willebrand disease Combined FV & FVIII deficiency

Reference range

n/a

Units

n/a

Synonyms

F8 Haemophilia A Factor VIII deficiency X-linked bleeding

Testing site

Synnovis : Genomics : St Thomas' Hospital

Laboratory

Molecular Haemostasis