Who gets type 1 Gaucher,
Who gets type 1 Gaucher, and how?
Type 1 Gaucher disease is hereditary, which means that people can be Carriers of the Gaucher cell mutation without having the condition themselves. It also means that if two Carriers have children together, they can pass the Gaucher cell mutation on to their children and there would be a chance their children could have Gaucher disease. Consult the graphic below to see one possible inheritance pattern.
Then there is a 50% chance of the child also being a Carrier.
And a 25% chance that the child will have Gaucher disease.
And a 25% chance the child will be unaffected.
Type 1 Gaucher affects:
~1-9 in 100,000 in the
overall population have
~1 in 600 within
Jewish population have
~1 in 17 within
the Ashkenazi Jewish
population is a Carrier
of a Gaucher mutation
Testing for type 1 Gaucher
If you’re concerned about type 1 Gaucher, talk to your doctor. There are tests that can be requested by your doctor to help diagnose type 1 Gaucher.
Enzyme activity test:
To confirm a diagnosis of type 1 Gaucher
A simple blood test, also called the beta-glucosidase leukocyte (BGL) test, measures the levels of the enzyme glucocerebrosidase. Low levels of this enzyme will confirm a diagnosis of type 1 Gaucher.
Genetic testing can identify the specific genetic mutations that result in Gaucher disease. Genetic testing may also be used to identify Carriers. While Carriers do not experience symptoms of Gaucher disease, it is important to identify Carriers because it is a hereditary condition.