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.
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.
Synonyms or keywords:
Factor VIII deficiency