• Overview
• Inheritance
• Symptoms
  • The Liver and Spleen
  • The Blood
  • The Bones
• Testing
• Treatment
• Resources

Gaucher disease is inherited in an autosomal recessive pattern and can affect both males and females. The disease occurs when both copies of a person's glucocerebrosidase gene have a mutation (a change in a gene which causes it to work incorrectly). Carriers have one normal gene copy and one gene copy with a mutation; carriers do NOT have Gaucher disease. Being a carrier of Gaucher disease is not known to lead to any health problems. Between 1 in 10 and 1 in 20 people (5-10%) of Ashkenazi Jewish descent are Gaucher carriers. People of other ethnic backgrounds may also be Gaucher carriers, but the chance is much lower.

A person with Gaucher disease inherits one gene mutation from each parent, who are both carriers. Each child of two carrier parents has: a 25% chance of being unaffected and not a carrier (having two working copies of the gene), a 50% chance of being a Gaucher carrier (having one working copy of the gene, like his/her parents), and a 25% chance of having Gaucher disease (having no working copies of the gene).

Blood relatives (siblings, aunts/uncles, cousins, etc.) of patients with Gaucher disease may also be carriers of a Gaucher gene mutation.

If one parent has Gaucher disease, and the other parent is not affected and is not a Gaucher carrier, then all of their children will be carriers but will not have Gaucher disease.

If one parent has Gaucher disease, and the other is a Gaucher carrier, in each pregnancy there is a 50% chance that the child will have Gaucher disease and a 50% chance that the child will be a Gaucher carrier.

The different details of each family history will cause the risk figures and other genetic counseling issues to vary from family to family. The specific information for YOUR family will be covered during the genetic counseling consultation part of your evaluation at the Center.