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Haemophilia, von Willebrand disease and other coagulation defects
Inheritance patterns and prenatal diagnosis
Inheritance patterns
Haemophilia A and B are sex (X) linked and it is usually possible to determine the causative genetic abnormality but new spontaneous mutations are not uncommon. Genetic counselling is available at Comprehensive Care Centres and Haemophilia Society publications also give useful information. In VWD there are both autosomal dominant and recessive forms. In many milder affected patients and their families no pattern of inheritance can be demonstrated. For VWD and other coagulation disorders (which are mostly autosomal recessive) genetic counselling is rarely requested or required.
Prenatal diagnosis
Prenatal diagnosis for haemophilia can be performed by a number of techniques from about ten weeks of pregnancy and modern genetics has given parents increasing choice for those who wish to exercise it.
How is it treated?
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