Inheritance of Fabry Disease
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We all inherit genes from our parents. These genes are contained on 46 chromosomes arranged in 23 pairs. One of these pairs determines whether an individual is male or female. Females have two ‘X’ chromosomes and males have one ‘X’ chromosome and one ‘Y’ chromosome. The ‘X’ chromosome is inherited from the mother and the ‘Y’ chromosome is inherited from the father. In Fabry, the defective gene is located on the ‘X’ chromosome. The disease, therefore, follows an X-linked inheritance pattern. On average, an affected female carrier will pass the disease on to 50% of her sons whilst 50% will remain healthy. 50% of her daughters will, on average, be carriers. An affected father will have sons who are all healthy, whilst all of his daughters will be affected.
If you have been diagnosed with Fabry you may want to consider discussing this with your relatives. Not only will this help your family understand about Fabry, but it is also important because Fabry is a genetically inherited condition.
Below is a pictogram on how Fabry is passed down from affected parents to children.
Affected mother
Affected father
Courtesy of MPS UK Society*