Introduction All around the world distinct ethnic groups have been identified as having increased risks for particular genetic diseases. There are other diseases which are less frequent than these or more variable in their symptoms, and for which carrier testing is available. After appropriate education, interested couples may make their own decisions about having carrier testing. Gaucher disease is very mild in some people and severe in others. Children or adults may have anemia, large liver and spleen, nosebleeeds, and bones which break easily.
Treatment is available, which reverses or reduces the symptoms.
Rarely the disease also involves the brain and nervous system, and in this case treatment is not effective. Individuals having carrier testing occasionally find out that they actually have a mild form of the disease. Intelligence is normal. Severely affected individuals die in childhood, but some people are only mildly affected. A. A harmful substance builds up in the brain, causing deterioration in both mental and physical abilities and death usually by age 5 years.