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To get Gaucher disease a person must have two copies of the mutated gene. A person with one normal and one mutated gene is a “carrier” of Gaucher disease and will not have the condition, but there is a 50% chance that they will pass the mutated gene onto their offspring.

 

Many different mutations of the gene for glucocerebrosidase have been identified. The type of mutation is connected to the severity of Gaucher disease. Carrier testing is possible in affected families. If you are interested discuss this with your treating doctor.

 

The risks are for each pregnancy.  Whilst this means that there is a 1:4 chance each of an affected or unaffected child and a 2/4 chance  of a carrier, in fact, as each pregnancy is independent by chance all off spring may be affected or unaffected.

If both parents have normal genes for glucocerebrosidase, each child will inherit two normal genes, one from each parent, and will neither have Gaucher disease nor be a carrier.


 

If both parents have Gaucher disease, all of their children will inherit two Gaucher genes and will have the Gaucher disease as well.


 

One parent has Gaucher disease and the other parent is a carrier.

Their children will have a 50% chance of having Gaucher disease and a 50% chance of being a carrier.


 

One parent has Gaucher disease and the other parent is not affected.

All the children will inherit the mutated gene from the affected parent and become carriers, but none of the children will have Gaucher disease.


 

Both parents are Gaucher carriers.

Their children have a 50% chance of being a carrier and a 25% chance of having Gaucher disease and 25% of being neither.


 

One parent is a Gaucher carrier (one mutated gene and one normal), and the other parent has two normal genes and is therefore not affected.

Their children have a 50% chance of being a carrier but none of their children will have the Gaucher disease.