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Carrier Statistics and Testing
As depicted in the figures above a two carrier family has a 25% chance with each child born to this couple of having an affected child with the disease. A 50% chance of having a child that will be a carrier of Tay-Sachs and a 25% chance of having a child that will neither be a carrier or affected (normal). This is known as a recessive gene, since two parents must be carriers to have an affected child.

If only one of the parents is a carrier of the Tay-Sachs gene mutation then only two outcomes are possible. There is a 50% chance that no gene mutation is passed and the children are not carriers and a 50% chance the gene mutation is passed and the child is a carrier. A one-carrier family cannot have an affected child. As seen in the chart above.

The groups most at risk are eastern Europeans of (Ashkenazi) Jewish decent, French Canadian living near the St. Lawrence River and Louisiana Cajuns. In these populations statistics show that one in every 27 people carried a Tay-Sachs gene mutation. The next highest at risk population is people of Irish-American decent. The carrier rate in that population is one in 50 people carry the Tay-Sachs gene. And finally for everyone in the general population studies have shown there is a one in 250 chance that you carry the Tay-Sachs gene. In the US alone there are over 1.2 million Tay-Sachs carriers and the vast majority of those people have never heard of the disease.

One of the most important features to remember is that Tay-Sachs often strikes families with no prior history of the disease. Since this is a recessive gene, two parents must be carriers to have a child with Tay-Sachs.

A simple blood test can distinguish Tay-Sachs carriers from non-carriers. Blood samples can be anzlyzed by either enzyme assay or DNA studies. The enzyme assay is bio- chemical test that measures the level of Hex-A in a persons blood. Carriers have less Hex-A in their body fluid and cells than non-carriers. The NTSAD (referenced below) maintains a listing of certified carrier screening locations-this is not a blood test every hospital is equipped to perform.

Since there is currently no treatment or cure for Tay-Sachs disease, it is important that couples in high risk groups undergo genetic testing to determine if they are carriers. For both Late Onset Tay-Sachs and Tay-Sachs disease the same blood test can distinguish either form of the disease.

For more information about carrier testing:

National Tay-Sachs and Allied Disease Association
2001 Beacon St. Suite 204
Boston, MA. 02135
Toll Free (800) 906-8723
Tel. (617) 277-4463
 
LATEST NEWS
KCBS News Healthwatch Report on Late Onset Tay-Sachs KCBS News Healthwatch Report on Late Onset Tay-Sachs
3/30/2012
The Late Onset Tay-Sachs Research and Education Foundation.
10/20/2010
Educate and help people affected with this debilitating disease that strikes older children, teens and adults alike.
10/20/2010
The world needs to know that Tay-Sachs affects others bedsides infants and very young children.
10/20/2010
 
 
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