Gaucher disease is a rare genetic disorder that affects many of the body’s organs. The condition is characterized by a low number of red blood cells (anemia), enlargement of the liver and spleen, easy bruising, and neurological complications.
Gaucher disease is caused by a mutation in the GBA gene; more than 400 disease-causing mutations have been identified within this gene. Symptoms can vary widely. The type and location of the mutation have an influence on the severity of symptoms, but other factors also play a role.
How Gaucher disease is inherited
Gaucher disease is inherited in an autosomal recessive manner. Each individual has two copies of every gene. Autosomal recessive means that disease only manifests if both copies of a certain gene are mutated. If someone has a mutation in only one gene copy, this person is an asymptomatic carrier.
There is a 50 percent risk that an asymptomatic carrier will pass the mutated gene to a child. A child will develop an autosomal recessive condition only if both parents are asymptomatic carriers of the disease. In such cases, the child has a 50 percent chance of also being a carrier, a 25 percent chance of being disease-free, and a 25 percent chance of developing the disease.
If a person with Gaucher disease has children with someone unaffected, all children will be carriers. If the partner of the patient is a carrier, there is a 50 percent chance that the child will develop Gaucher disease and a 50 percent chance the child will be a carrier. If both parents have Gaucher disease, all children will be affected by the condition.
Gaucher Disease News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.