Gaucher disease inheritance

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 as 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.
WHERE CAN I LEARN MORE?

References

  1. Gaucher Association. Inheritance. Available at: https://www.gaucher.org.uk/inheritance; Accessed August 2019.
  2. Burrows, TA. et al. Prevalence and management of Gaucher disease. Pediatr Health Med Ther 2011;2:59–73.
Brian (Carer): "When I met Elaine she was fit, full of life … and then when we got to know each other she eventually turned around to me and said, amongst other things ‘Oh, by the way, I’ve got Gaucher disease’. It was like ‘What? Wait, what is Gaucher disease?."
Virginia (Patient): "My first Gaucher symptoms were an enlarged liver and spleen, low platelet levels and a slow growth and development."
Elaine (Patient): "By the age of about 4 or 5, I was showing the classic signs of Gaucher disease: a very pronounced tummy, very pale skin, my limbs were very thin and I would bruise very easily."
Ivana (Patient): "Doctors from my city hospital, they did not know what was happening. They hadn’t even heard of Gaucher disease."
Virginia (Patient): “It took a little bit over a year between my initial symptoms and my Gaucher diagnosis. I was eight years old when the symptoms first started.”
Virginia (Patient): “I find myself very fortunate to have been diagnosed at such an early age, and also being able to get my treatment right away. Because now I feel really healthy and live a full life.”
Virginia (Patient): “I think Gaucher disease as a whole has made my whole family more close together. We have connected in a way that, I don't know if other families do.”
Elaine (Patient): “It’s of great value having a brother to talk to that understands totally what I’m going though.”
Brian (Carer): “As a caregiver and a husband, I do what I think is natural and the right thing to do, which is just support, love, have fun and handle whatever comes along.”
Ivana (Patient): “The support from my family is the most important for me.”
Gustavo (Patient): “When I was diagnosed with Gaucher disease, I felt alone at the beginning. When a person is diagnosed with Gaucher disease I advise that they don’t feel alone because there are a lot of people with Gaucher.”
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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.

Focusonfabry.com 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.

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