Gaucher disease Inheritance

Gaucher disease is not contagious, but it is a hereditary condition that can be passed down from parents to their children.

Every cell in the human body contains chromosomes, which are thread-like structures carrying genetic information. These chromosomes exist in pairs, and each person will inherit one of each pair from their mother, and the other from their father.1

The gene responsible for Gaucher disease is found on chromosome 1.2 It is necessary to
inherit two copies of this chromosome containing a mutated version of this Gaucher disease gene (one from each parent) in order to develop the disease. Gaucher disease is therefore known as an autosomal recessive disease.1

A person that 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’) there is a risk that: 1

  • 1 in 4 (25%) of their children will inherit two normal copies of the gene (A), and will therefore be unaffected by Gaucher disease.
  • 2 in 4 (50%) of their children will inherit only one copy of the mutated gene, and will therefore be carriers.
  • 1 in 4 (25%) of their children will inherit two copies of the mutated Gaucher disease gene (a), and will therefore develop Gaucher disease.

Where can I learn more?

1.  Gaucher Association. Inheritance. Available at: [Accessed January 2015]
2.  Burrows, TA. et al. Prevalence and management of Gaucher disease. Pediatric Health, Medicine and Therapeutics. 2011; 2: 59–73

This leaflet hopes to answer questions about the inheritance of Gaucher disease.
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The information on this website is intended only to provide knowledge of Gaucher disease health topics. This information should not be used in place of advice from your GP or other healthcare professional. If in doubt please contact your doctor for advice. is intended for an International and US audience and has been produced by Shire. The website has been developed in accordance with industry and legal standards to provide information for the general public about Hunter Syndrome health topics. Shire makes every reasonable effort to include accurate and current information. However, the information provided on the website is not exhaustive.

Download the Gaucher disease toolkit for helpful information and questions to discuss with your doctor.
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