HOW IS FABRY DISEASE INHERITED

Fabry disease is a rare genetic disorder inherited by a faulty gene located on chromosome X; this means that affected males can pass the defect only onto female offspring, whilst affected females have a 50% chance of passing the defect onto both their sons and daughters.

It is thus important to be able to analyse your own family tree, with the help of your doctor to see who in the family has been affected by the disease and how. Greater awareness of the way the disease is inherited can contribute significantly to family planning and responsible parenthood. (For genealogical history click here)

 

Females carrying the faulty gene (known as "carriers") have a 50% chance, at every pregnancy, of transmitting the faulty gene to their offspring.

Affected fathers pass the disease onto all their daughters and not to their sons.