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Nat Rev Genet. 2005 Jun;6(6):488-501.

Haemophilia A: from mutation analysis to new therapies.

Author information

1
GSF-National Research Centre for Environment and Health, Institute of Developmental Genetics, D-85764 Neuherberg, Germany. graw@gsf.de

Abstract

Haemophilia is caused by hundreds of different mutations and manifests itself in clinical conditions of varying severity. Despite being inherited in monogenic form, the clinical features of haemophilia can be influenced by other genetic factors, thereby confounding the boundary between monogenic and multifactorial disease. Unlike sufferers of other genetic diseases, haemophiliacs can be treated successfully by intravenous substitution of coagulation factors. Haemophilia is also the most attractive model for developing gene-therapy protocols, as the normal life expectancy of haemophiliacs allows the side effects of gene therapy, as well as its efficiency, to be monitored over long periods.

PMID:
15931172
DOI:
10.1038/nrg1617
[Indexed for MEDLINE]

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