How is Gaucher disease inherited?
Gaucher disease is not contagious, but it is a hereditary condition that can be passed down from parents to their children.1
Every cell in the human body contains chromosomes – thread-like structures carrying genetic information – that exist in pairs. One chromosome in each pair is inherited from the mother, and the other from the father. For each gene, a person therefore inherits one copy (allele) from each parent.1 The gene responsible for Gaucher disease is found on chromosome 1.2
For a person to have the disease, both copies of this chromosome (one inherited from each parent) must contain a mutated version of the Gaucher disease gene. This is called autosomal recessive inheritance.1
A person who has one chromosome containing a mutated Gaucher disease gene and one chromosome containing a normal gene will not develop Gaucher disease. This type of person is called a carrier.1
If both parents are carriers of Gaucher disease (each parent has one Gaucher disease mutated gene, ‘a’, and one normal gene, ‘A’), each pregnancy carries the following risks:1
A 25% chance (1 in 4) that the child will inherit two normal copies of the gene (A), and will therefore be unaffected by Gaucher disease.
A 50% chance (2 in 4) that the child will inherit only one copy of the mutated gene (a), and will therefore be a carrier.
A 25% chance (1 in 4) that the child will inherit two copies of the mutated Gaucher disease gene (a), and will therefore develop Gaucher disease.