How do you get Gaucher disease?
Gaucher disease is inherited, meaning it is passed down from one generation to the next through the genes of one’s parents. Genes determine various traits, like eye colour, or the likelihood of developing a certain condition.3,7
A pair of genes determines each of our traits – one inherited from each parent. Each gene in the pair is considered either dominant or recessive.3
If a dominant gene is present, the dominant characteristic will develop. A recessive characteristic can only develop when two recessive genes are present. This is referred to as an autosomal recessive inheritance.3
As with all of our traits, we inherit a pair of genes that is responsible for our ability to produce the enzyme glucocerebrosidase—one gene from each parent. A person develops Gaucher disease when the mother and father each carry a recessive copy of this gene and the child receives this recessive copy from both parents. If a person inherits only one recessive copy of this gene, they are considered a carrier. They do not have the disease but can pass it on to their children.
How is Gaucher disease inherited?
An inheritance pattern is a way of seeing how a gene is passed down from generation to generation. The graphic below shows how different combinations of people—those with and without the condition, as well as carriers—can pass Gaucher disease on to their children.7
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.7
