Haemophilia A: from mutation analysis to new therapies.
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.
Graw
Jochen
J
GSF-National Research Centre for Environment and Health, Institute of Developmental Genetics, D-85764 Neuherberg, Germany. graw@gsf.de
Brackmann
Hans-Hermann
HH
Oldenburg
Johannes
J
Schneppenheim
Reinhard
R
Spannagl
Michael
M
Schwaab
Rainer
R
D004252:DNA Mutational Analysis; D005169:Factor VIII / Q000737:chemistry / Q000235:genetics*; D015316:Genetic Therapy; D006467:Hemophilia A / Q000235:genetics* / Q000628:therapy*; D006801:Humans; D008297:Male; D009154:Mutation; D011487:Protein Conformation; D011994:Recombinant Proteins / Q000737:chemistry / Q000235:genetics / Q000378:metabolism
D011994:Recombinant Proteins; D005169:Factor VIII