Familial Transmission

Gaucher disease is a genetic disorder that is transmitted in an autosomal recessive fashion. An affected individual must inherit two recessive Gaucher genes — one from each parent, in order to have Gaucher disease. Individuals with only a single Gaucher gene are known as "carriers". Carriers are completely normal with respect to Gaucher disease. Carrying only one recessive gene for Gaucher disease has no bearing on one's health, though it may have reproductive implications. With prenatal diagnosis, it is now possible to ascertain early in pregnancy whether the fetus of a "carrier couple" is affected by Gaucher disease.

If two carrier individuals have children, there is a 25 percent chance with each and every pregnancy of having a child with Gaucher disease.

If a carrier and a non-carrier have children, none of their offspring will have Gaucher Disease, but each pregnancy bears a 50 percent chance of producing a carrier of the disease.

All of the children of a patient with Gaucher disease and a non-carrier will be unaffected carriers.

If a patient with Gaucher disease and a carrier have children, on average, half will have the disease and half will be carriers.

Parent 1   Parent 2   Probability of Each Child Not Being a Carrier or Affected Risk of Each Child Being a Carrier Risk of Each Child Being Affected
carrier + carrier = 25% 50 % 25%
carrier + non-carrier = 50% 50% 0%
affected + carrier = 0% 50% 50%
affected + non-carrier = 0% 100% 0%