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WHAT DOES IT MEAN TO BE A CARRIER OF TAY-SACHS DISEASE?

Source: www.permanente.net
Topic: Tay-Sachs
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Sort Desciption: You should know that being a carrier for Tay-Sachs disease is not an illness and does not affect your own health. In fact, you would probably not have found out that you are a carrier unless you had a special blood test. ...

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You should know that being a carrier for Tay-Sachs disease is not an illness and does not affect your own health. In fact, you would probably not have found out that you are a carrier unless you had a special blood test. Being a carrier simply means that one of the two copies of the gene that can cause Tay-Sachs disease has a change that keeps it from working properly. You do not have symptoms of this disease because you only have one copy of the gene that is not working (it takes two non-working copies of the gene to cause the disease). The only way your baby could have this condition is if BOTH you AND your partner are carriers, so the next step is to test your partner. If he is not a carrier, then there is not a concern for the pregnancy. If he is a carrier, the baby will have a 25% (1 in 4) chance to have Tay-Sachs disease. The chance that your partner is a carrier depends on his ethnicity. People who are Ashkenazi Jewish have a 3% (1 in 30) chance to be a Tay Sachs carrier. It would be rare for a person without Ashkenazi Jewish ancestry to be a carrier. Please read the following commonly asked questions for details:

What is a gene and what does it do? Genes are our body's "instructions" that determine our physical characteristics, such as blood type and hair color. They are located on chromosomes found in almost every cell of our bodies. We inherit one set of chromosomes from each of our parents; therefore, our chromosomes, and the thousands of genes located on each of them, come in pairs.

The Tay-Sachs gene pair tells our bodies how to make a specific enzyme, called hexosaminidase A (or hex A). This enzyme breaks down a certain type of fat normally found in our brain cells. If a person has one copy of the Tay-Sachs gene that does not function properly, he or she is called a carrier of Tay-Sachs disease. As long as a person has one working copy of this gene, the body has enough hex A to do its job, which is why he/she will never have Tay-Sachs disease.

What is Tay-Sachs disease? When babies inherit two non-working copies of the Tay-Sachs gene, they are unable to make hex A. Without this enzyme the fat, which is usually broken down by hex A, begins to build up and gradually destroys brain and nerve cells until the entire central nervous system stops working. Babies appear normal until about six months old. However, once the disease begins, there is rapid deterioration. Death occurs between 3 to 5 years of life.

How does a person become a carrier? Since all of our genes are inherited from our parents on their chromosomes, individuals who are Tay-Sachs carriers have inherited their non-working gene from one of their parents. This means that full siblings of a carrier have a 50% chance to be a carrier.

Can anyone be a carrier of Tay-Sachs disease? Yes. Tay-Sachs carriers can be found in any nationality and ethnic group but are much more commonly found in Jewish individuals whose ancestors came from Eastern Europe (Ashkenazi Jews).

Is there a cure for Tay-Sachs disease? No. Although research is being conducted, there is nothing that can be done to change the course of this disease at this time. The treatment of Tay-Sachs disease is aimed at alleviating the problems associated with the disease.

Can being a carrier of Tay-Sachs disease lead to having Tay-Sachs disease? No. Carriers will never develop the disease because they have one working copy of the hex A gene. Their bodies make enough of the enzyme to be healthy.

Does this mean that my child(ren) can have Tay-Sachs disease? Since children receive half of their genetic information, like eye and hair color, from their mother and half from their father, the answer to this question depends on whether or not your partner is a carrier.

If your partner is not a Tay-Sachs carrier, then we would not expect your children to have Tay-Sachs disease. With each pregnancy, you will have a 50% chance of having a child who is a Tay-Sachs carrier just like you and a 50% chance of having a child with two working copies of the hex A gene. None of these children will have Tay-Sachs disease.

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