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Article

Characterization of F8 defects in haemophilia A in Pakistan: investigation of correlation between mutation type and the in vitro thrombin generation assay.

Haemophilia : the official journal of the World Federation of Hemophilia - 1 Mar 2014

Khanum F, Collins P W, Harris R L, Bowen D J

Abstract excerpt

Hereditary haemophilia A is an X-linked bleeding disorder caused by mutations in the coagulation factor VIII gene (FVIII abbreviates protein, gene symbol F8). The mutation spectrum has been reported in various populations but not in Pakistan. The aims of this study were to (i) characterize F8 mutations in a large haemophilia A cohort from Pakistan and to (ii) investigate whether in vitro thrombin generation (TG)...

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PMID: 24118398
DOI: 10.1111/hae.12272

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