Hemophilia A

Data on hemophilia a published by P. Casana and colleagues

Published in Hospital Law Weekly, August 21st, 2008

"Hemophilia A is an X-linked recessive disorder caused by a lack or decrease of factor VIII activity. Its socio-economic impact is high given its high bleeding expression and treatment cost," researchers in Valencia, Spain report.

"Our aim was to establish the mutation of each patient to improve family management. A total of 116 unrelated families with severe and moderate hemophilia A were involved. Non-carriers of intron 22 and intron 1 rearrangements were included in F8 gene screening. Intron 1 and 22 inversion frequencies were 3% and 52.5% respectively. Putative mutations were identified in all the families; 38 were new, The cumulative inhibitor incidence was 22%....

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Source: Hospital Law Weekly (2008-08-21)

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