Hemophilia A

Findings from University of Foggia provide new insights into hemophilia a

Published in Blood Weekly, June 19th, 2008

" The high mutational heterogeneity of hemophilia A is a challenge for the provision of genetic services. We plan to identify the mutation in patients with hemophilia A in order to create a confidential national database of mutations for the optimization of genetic services in Italy," researchers in Foggia, Italy report.

"Design and Methods The factor VIII gene (F8) was analyzed in 1296 unrelated patients with hemophilia A using screening methods for intron 22 and 1 inversions and rare mutations (denaturing high performance liquid chromatography, conformation sensitive gel electrophoresis) and/or direct sequencing. F8 mutations were identified in 874 (89%), 146 (89%),...

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Source: Blood Weekly (2008-06-19)

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