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.
Fabry Disease in Men and Women
As described in the Genetics page, Fabry disease can affect anyone who inherits the faulty gene - both males and females. Virtually all males with the Fabry gene develop the disease and are likely to express some or many of the classic Fabry symptoms. In women with the Fabry gene, however, symptoms can range from none (in asymptomatic carriers) to very serious manifestations similar to those seen in males. That's because the level of symptom severity often depends on the amount of alpha-GAL enzyme produced in the body. Females with the faulty gene can have anywhere from near-normal levels of alpha-GAL to no active enzyme. Males, on the other hand, usually have little or no active alpha-GAL and are more likely to experience more severe symptoms than females.
