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Genetics: Inheritance

Next: Tracing Fabry in your family

The Fabry gene is passed on in one of two ways:

1) A father with Fabry disease (Affected Father) will pass the gene onto all of his daughters and none of his sons (see the figure below). As discussed in the Genetics page, the Fabry gene is located on the X chromosome and a man will only pass his X chromosome (which carries the Fabry gene) on to his daughters. His daughters will likely not have Fabry disease but will be Fabry carriers. This is because the daughters’ other X chromosome will likely carry a healthy gene that is capable of making alpha-GAL. However, some female Fabry carriers experience symptoms of Fabry disease. For more information about affected female carriers, read Fabry disease in men and women.

2) If a mother carries the Fabry gene (Carrier Mother), there is a 50% chance that she will pass the gene onto her sons or daughters (see the figure below). Her sons who inherit the gene will have Fabry disease. Her daughters who inherit the gene will be carriers.

Next: Tracing Fabry in your family

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Fabry Registry

First Symptoms to Diagnosis

Data from the Fabry Registry confirms the large gap between the average age of symptoms onset (10.5) and diagnosis of Fabry disease (28.5). To learn more about the importance of the Fabry Registry click here.

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