Improved hemophilia A carrier detection by DDAVP stimulation of factor VIII.
We studied the differential increase in FVIIIc and FVIII R:Ag after the intravenous infusion of 0.30 micrograms/kg DDAVP in 20 obligate hemophilia A carriers and in 20 female controls. FVIIIc increased in carriers (59.5 +/- 23.1 to 137.5 +/- 45.9) and in controls (98.0 +/- 20.7 to 259.9 +/- 57.4) (P less than 0.001), but the magnitude of the FVIIIc increase in carriers was less than that in controls by 51.9% (P less than 0.001). FVIII R:Ag increased comparably in carriers (105.2 +/- 30.4 to 171.9 +/- 25.4) and controls (92.1 +/- 33.0 to 165.2 +/- 20.6). Using the post-DDAVP instead of the standard FVIIIc/FVIII R:Ag ratio, hemophilia carrier detection was increased from 85% (with 10% false positive and 20% false negative assignments) to 95% (with 5% false positive and 5% false negative assignments). Toxicity associated with DDAVP infusion correlated linearly with doses greater than 10.5 +/- 1.3 micrograms/m2 (P less than 0.02) and with total doses greater than 17.0 +/- 4.5 micrograms (P less than 0.02). The use of DDAVP improves carrier detection in factor VIII-deficient hemophilia.
D000293:Adolescent; D000328:Adult; D000704:Analysis of Variance; D000941:Antigens / Q000032:analysis*; D001127:Arginine Vasopressin; D002648:Child; D003894:Deamino Arginine Vasopressin / Q000009:adverse effects; D004341:Drug Evaluation; D005169:Factor VIII / Q000032:analysis / Q000276:immunology*; D005188:False Negative Reactions; D005189:False Positive Reactions; D005260:Female; D006580:Genetic Carrier Screening / Q000379:methods*; D006261:Headache / Q000139:chemically induced; D006467:Hemophilia A / Q000175:diagnosis*; D006801:Humans; D008297:Male; D008875:Middle Aged; D014841:von Willebrand Factor
D000941:Antigens; D014841:von Willebrand Factor; D001127:Arginine Vasopressin; D005169:Factor VIII; D003894:Deamino Arginine Vasopressin