A
man with Fabry diseaseWho
to test if a woman is a carrier for Fabry Disease 
| A
man with Fabry diseaseWho
to test if a woman is a carrier for Fabry Disease |
Men get full Fabry disease, and affected women are generally completely healthy but are carriers. This type of inheritance is called ‘sex linked inheritance’. 
The inheritance will be described form the point of view of a man with Fabry disease, and then from the point of view of a woman who is a carrier for Fabry disease.
Fabry disease should have been inherited from his mother. If she has other children, or is considering having more children in the future, she should see a genetic specialist for advice. Each of her sons has a 50:50 chance of having Fabry disease, each daughter a 50:50 chance of being a carrier.
There is a 50:50 chance that a brother will have Fabry disease. Brothers should have a blood test for diagnosis. If a brother does not have Fabry disease, his own children will not get the disease or be carriers.
There is a 50:50 chance that each sister will be a carrier for Fabry disease, and should have a blood test. If the sister is clear, she cannot pass Fabry disease on to her children. If she is a carrier, read the inheritance rules for a carrier below.
A man with Fabry disease cannot pass the condition onto his sons. This is because the abnormal gene is on the 'X' chromosome, and in order to have a son, a man has to pass on his 'Y' chromosome to the child, and this does not carry Fabry disease (for more information on 'X' and 'Y' chromosomes in Fabry disease, click here).
Each daughter will be a carrier for Fabry disease, though this should be confirmed by a specialist. This is because for the man to have a daughter, he has to pass on an X chromosome. A man only has one X chromosome, which must be abnormal if he has Fabry disease.
Fabry disease could have been inherited from her mother or father. If it was her father, the diagnosis should be obvious by the time the man is old enough to have children. Therefore, the mother should be tested for carrier status if the father is fit and well.
If Fabry disease is inherited from the father, the male children should all be clear and cannot pass the condition onto their children. If Fabry disease is inherited from the mother’s side, there is a 50:50 chance that he will have Fabry disease.
If Fabry disease is inherited from the father, the female children should be carriers for Fabry disease. If Fabry disease is inherited from the mother’s side, there is a 50:50 chance that the sister will be a carrier.
There is a 50:50 chance that each son would have Fabry disease. An unaffected son would not pass the disease on.
There is a 50:50 chance that a daughter will be a carrier for Fabry disease. An unaffected daughter would not pass the disease on.
NKF Controlled Document No. 41, How is Fabry Disease passed on?, written 23 November 2002. Last reviewed 27 October 2008.
The National Kidney Federation cannot accept responsibility for information provided. The above is for guidance only. Patients are advised to seek further information from their own doctor.
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Page created: 23 November 2002
Last updated: 21 June 2007
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