Who is at risk?

Ashkenazi Jews, mostly from the Eastern and Central parts of Europe, are the most common sufferers of Tay-Sachs disease. This is believed to be because of a rare genetic mutation present in that population. Other groups that seem to acquire the disease mutations include French-Canadians from the province of Quebec, so-called Old Order Amish in the Pennsylvania region of the United States and the Cajun people of Louisiana. Tay-Sachs is a birth defect that can be detected with a blood test, so it is wise to have both parents tested as part of family planning.

Researchers believe that mutations in the HEXA gene are largely responsible for acquiring it. The HEXA gene is responsible for relaying details on creating an enzyme called beta-hexosaminidase A, which is largely found in the spinal cord and brain. As the enzyme decreases, GM2 gangliosides that the enzyme usually breaks down can build up. Eventually, the GM2 gangliosides begin to increase, destroying the brain and spinal cord neurons, resulting in full onset of the symptoms of Tay-Sachs disease.

How It Is Acquired

Children are believed to inherit the gene from both parents, but not everyone who carries the gene acquires the disease, so it is a serious issue to confront. If both parents are carriers of the gene that causes Tay-Sachs, there is a 50 percent chance that their offspring will carry the gene but be unaffected. There is a 25 percent chance they will not carry the gene, and a 25 percent chance that the child will get the disease. A genetic counselor can explain in detail the chances of acquisition after obtaining the results of the blood test and going over the family history.