About Gaucher Disease


How do you get Gaucher Disease?

Gaucher disease is an autosomal recessive genetic condition. This means that in order to have Gaucher disease, an individual must have two copies of the abnormal gene that causes the disease, one from each parent. Individuals who have only one copy of the abnormal gene do not have the disease and are referred to as “carriers”. Carriers usually do not know they are carriers and can pass the abnormal gene to their children. If two carriers have a child, there is a 1 in 4 chance the child will have Gaucher disease (2 abnormal genes) or will not have Gaucher disease (2 healthy genes). There is a 50% chance the child will be a carrier (receive one abnormal gene from either the mother or father.