How do you get Gaucher disease?
Gaucher disease is a condition that’s inherited from a person’s parents. It is passed down from generation to generation through genes.
What exactly are genes? A pair of genes—1 inherited from each parent—determines a person's traits, like eye or hair color. But they can also cause some disorders, such as Gaucher disease.
Gaucher disease can only develop when a person inherits 2 abnormal copies of the gene responsible for producing the enzyme glucocerebrosidase. If a person inherits 1 abnormal copy of this gene, he or she is considered a carrier and could pass the gene that could cause the disease on to his or her children.
Gaucher disease is most common among people of Ashkenazi Jewish descent. In the general population, Gaucher disease affects roughly 1 in 50,000 to 1 in 100,000 people. Among people of Ashkenazi Jewish heritage, the disease affects roughly 1 in 600 people.
If Gaucher disease runs in your family, or a family member is a carrier, consider getting tested for the condition.
How is Gaucher disease inherited?
An inheritance pattern is a way of seeing how a gene is passed down from generation to generation. This graphic shows how the disease is passed on.
The inheritance patterns show why some people have Gaucher disease, while others, who may even be closely related to the person with the disease, might not.