Abstract
The mild hemophilia might be discovered due to a massive hemorrhage at the surgery. A 42 years old man, who had experienced massive hemorrhage during his past hip joint operations, showed a prolonged APTT (53.8 sec) in his preoperative examination for his suppurative hip joint. The results of clotting factor assays were not compatible with prolonged APTT, but the discrepancy between 72% factor VIII activity (FVIII : C) and 326% von Willebrand factor antigen was recognized. After bone curettage operation, he suffered enormous bleeding and hemorrhagic shock. At 1 hour after infusion of recombinant FVIII, his APTT was shortened and also his bleeding was stopped. One month later, he developed inhibitor to FVIII but it disappeared soon after change of treatment to recombinant factor VIIa . His FVIII : C was about 50%, and clot waveform analysis and thrombin generation assay did not normalize, even in his stable coagulative state. Nucleotide sequencing of his FVIII gene revealed a cytosine to adenine transversion in exon 16. The nucleotide substitution resulted in a threonine 1774 to asparagine in A3 domain. He was recognized a CRM+ mild hemophilia A, whose FVIII : C level was less than half of its antigen.
