Canterbury DHB


DNA Diagnosis of Haemophilia A & B

The use of genotypic diagnosis of haemophilia A and B, in conjunction with conventional assays, is now a routine part of the modern management of haemophilia. Accurate carrier detection and prenatal diagnosis are essential elements in any genetic diagnostic and counselling service.

All individuals with haemophilia and their families should have access to specialised genetic services. Genetic counselling should be available before, during, and after genetic analysis for all potentially affected individuals and those at risk of being carriers.

Advise patients and families to make initial enquiries via their local haemophilia centre followed by referral to a specialist haematologist at Auckland, Wellington, or Christchurch Centres, or direct referral to the Genetics Services. Patients can self-refer to the Genetics Services. It is important that genetic testing is only undertaken in a centre where there is ready access to genetic counselling services. Close collaboration between the genetics services and the haemophilia centre is encouraged.

Refer to National Haemophilia Guidelines for full details of the Genetics Services.

About this Canterbury DHB document (5288):

Document Owner:

Sean Macpherson (see Who's Who)

Last Reviewed:

November 2019

Next Review:

November 2022


Note: Only the electronic version is controlled. Once printed, this is no longer a controlled document. Disclaimer

Topic Code: 5288