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Haemophilia A: molecular insights.
Castaldo G, D'Argenio V, Nardiello P, Zarrilli F, Sanna V, Rocino A, Coppola A, Di Minno G, Salvatore F. Castaldo G, et al. Clin Chem Lab Med. 2007;45(4):450-61. doi: 10.1515/CCLM.2007.093. Clin Chem Lab Med. 2007. PMID: 17439320 Review.
Haemophilia A is diagnosed based on normal prothrombin time, altered activated partial thromboplastin time and reduced factor VIII activity in plasma. Carrier females are usually asymptomatic and can be identified only by molecular analysis. The most f …
Haemophilia A is diagnosed based on normal prothrombin time, altered activated partial thromboplastin time and reduced factor …
Laboratory diagnosis of acquired hemophilia A: limitations, consequences, and challenges.
Tiede A, Werwitzke S, Scharf RE. Tiede A, et al. Semin Thromb Hemost. 2014 Oct;40(7):803-11. doi: 10.1055/s-0034-1390004. Epub 2014 Oct 9. Semin Thromb Hemost. 2014. PMID: 25299927 Review.
About 10% of patients do not bleed at the time of diagnosis, but are at risk of future bleeding, particularly during interventions or surgery. Diagnosis of AHA is confirmed by demonstrating markedly reduced factor VIII activity (FVIII:C) and neutralizi …
About 10% of patients do not bleed at the time of diagnosis, but are at risk of future bleeding, particularly during interventions or surger …
Partial reconstitution of factor VIII activity from a mild Crm+ hemophilia A patient by replacement of the defective A2 domain.
Pieneman WC, Fay P, Briët E, Reitsma PH, Bertina RM. Pieneman WC, et al. Thromb Haemost. 1998 May;79(5):943-8. Thromb Haemost. 1998. PMID: 9609226
Mutation analysis of the coding region, promoter and 3' untranslated region of the factor VIII gene revealed the presence of a C to T substitution at codon 527. This nucleotide change predicts the replacement of an arginine to tryptophan in the A2 domain close to a suggest …
Mutation analysis of the coding region, promoter and 3' untranslated region of the factor VIII gene revealed the presence of a C to T substi …