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.

Author affiliations

1. GSF-National Research Centre for Environment and Health, Institute of Developmental Genetics, D-85764 Neuherberg, Germany.
2. Institute for Experimental Haematology and Transfusion Medicine, University of Bonn, D-53105 Bonn, Germany.
3. Institute of Transfusion Medicine and Immune-Haematology, DRK Blood Donor Service Baden-Württemberg/Hessen, D-60528 Frankfurt, Germany.
4. University Medical Centre Hamburg-Eppendorf, Department of Paediatric Haematology/Oncology, D-20246 Hamburg, Germany.
5. University Hospital Munich, Department of Haemostasis and Transfusion Medicine, D-80336 München, Germany.

Correspondence to: Jochen Graw¹ Email: graw@gsf.de

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