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The Genetics of Fabry Disease |
The diagnosis of Fabry Disease in one family member may lead to the evaluation and diagnosis in other relatives, as Fabry is a defective gene in the X-chromosome. Men have an X and a Y-chromosome whereas women have two X-chromosomes. This is why men suffer more than women although there are cases where women also have all the symptoms. Because the disease is genetic, it is important that you contact your relatives and notify them to be checked for Fabry. Blood tests confirm the level of a-gal A enzyme in the blood or biopsy. Care should be exercised in diagnosing females as the level of the a-gal enzyme is not a true indicator of Fabry Disease and they should be checked for the specific gene mutation. A medical professional can help you understand the inheritance pattern in your family. The following charts are a brief introduction to understanding how Fabry disease is passed on.
Males with the faulty gene will transmit the disease to all of their daughters.
Males do not transmit the disease to their sons.
Females with the faulty gene have a 50% chance (during each pregnancy)
of transmitting the faulty gene to their children.
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