Demo: Carrier Status: Examples

Here are a few examples of carrier status results:

• Cystic Fibrosis 

  What are the symptoms of cystic fibrosis?

  Cystic fibrosis affects the lungs and the digestive system (stomach and intestines). Children are diagnosed usually in the first two years of life when they start to have problems with growth and breathing. Cystic fibrosis varies in its symptoms, but with medical treatment, people with CF typically live into their 30s or 40s.

  How common is cystic fibrosis?

  Cystic fibrosis is most common among people whose families originally came from Northern Europe. In populations with primarily Caucasian ancestry, 1 in 25 people are carriers of a cystic fibrosis gene mutation. This means that about 1 in 3,200 Caucasian babies will have the disease. Cystic fibrosis is less common in other populations.

• Sickle Cell 

  What are the symptoms of sickle cell disease?

  People with sickle cell disease have “sickle” shaped red blood cells. The abnormally shaped red blood cells do not carry oxygen as well as normal red blood cells so parts of the body do not get enough oxygenated blood. This causes episodes of severe pain and problems with parts of the body such as bones, spleen, kidneys, joints and lungs.

  

  How common is sickle cell disease?

  Sickle cell disease is the most common genetic disorder in the U.S. Sixty to 80 percent of cases are among people whose families originally came from Africa. In the African-American population, 1 in 12 people (8 percent) are carriers of a sickle cell gene mutation. About 1000 babies each year are born with the disease. Sickle cell disease is seen occasionally in Mediterranean and Middle Eastern populations. It is much less common in other populations.

• Tay-Sachs 

  What are the symptoms of Tay-Sachs disease?

  A baby with Tay-Sachs grows normally until about three to six months of age. At that point, the baby begins to have a buildup of a certain chemical in his or her brain. He or she begins to develop physical and intellectual disabilities. Damage to the brain and spinal cord continues, leading to blindness, seizures, loss of muscle tone, and eventually death. A child with Tay-Sachs usually does not live past the age of five or six.

  How common is Tay-Sachs?

  Tay-Sachs disease is most common in the Ashkenazi Jewish population (and also common in French Canadians, Louisiana Cajuns, and Irish Americans). About 1 in 30 Ashkenazi Jews (3 percent) is a carrier of a Tay-Sachs gene mutation. In the non-Jewish population, about 1 in 300 people are carriers.