Who are Gaucher Carriers?

If one parent is a carrier of Gaucher disease and the other parent is not, there is a 50:50 chance of having a child who inherits the "Gaucher gene" from the carrier parent, and becomes a carrier of the disease. None of the children will have Gaucher disease, because they will have one normal gene inherited from the other parent. (see following figure)

If both parents are carriers of Gaucher disease, with each pregnancy there is a 25% chance of having a child who inherits one "Gaucher gene" from each parent, and thus has Gaucher disease. There is a 50:50 chance of having a child who inherits a "Gaucher gene" from one parent and a normal gene from the other parent, and becomes a carrier of the disease. Finally, there is a 25% chance for each pregnancy of having a child who inherits two normal genes, one from each parent, and who neither has Gaucher disease, nor is a carrier. (see following figure)

It must be emphasized that the odds for each pregnancy, of inheriting Gaucher disease, are totally independent of whether or not a previous child has the disease. Having one child with Gaucher disease does not mean that the next three children cannot inherit the disease.

If one parent has Gaucher disease and the other parent neither has the disease, nor is a carrier, all children will inherit the "Gaucher gene" from the parent with the disease, and will become carriers. None of these children will have the disease themselves. (see following figure)

If one parent has Gaucher disease and the other parent is a Gaucher carrier, there is a 50:50 chance of having a child who inherits a "Gaucher gene" from each parent, and thus has the disease. There is also a 50:50 chance of having a child who only inherits the "Gaucher gene" from one parent, and becomes a carrier. (see following figure)

If both parents have Gaucher disease, all of their children will inherit two "Gaucher genes" and will have the disease as well. (see following figure)