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.
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.
Synonyms or keywords:
Factor IX deficiency