Reduced clinical severity in a mutationally well-characterized cohort of severe hemophilia with associated thrombophilia.
The clinical phenotype in hemophilia generally correlates with the type of mutations. We studied 16 patients with severe hemophilia A (factor VIII and factor VIII:Ag <1%) with intron 22 inversions of the factor VIII gene and 6 patients with hemophilia B, 2 each having a common mutation, for the common prothrombotic markers in the anticoagulant and fibrinolytic cascade. Of the patients, 6 of 10 with "clinically mild" and 1 of 12 with "clinically severe" disease had a deficiency or abnormality of any of the factors studied. Thrombophilia thus modulates the clinical severity of hemophilia as is observed in patients who carry similar mutations.
Institute of Immunohaematology, KEM Hospital, Parel, India.
Shrimati
S
Shetty
Kanjaksha
K
Ghosh
D007446:Chromosome Inversion; D015331:Cohort Studies; D005169:Factor VIII / Q000235:genetics*; D006467:Hemophilia A / Q000150:complications / Q000235:genetics*; D006801:Humans; D009154:Mutation; D019851:Thrombophilia / Q000150:complications / Q000235:genetics*
D005169:Factor VIII