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Ethnicity Based Carrier Screening

Some recessive genetic conditions are known to occur with an increased frequency in certain ethnic groups. A person is called a ‘carrier’ when they have a silent genetic trait that does not cause any medical symptoms. When both parents are carriers of the same recessive disease, there is a 1 in 4 (25%) chance that the pregnancy will inherit the trait from both parents and have the disease, a 1 in 2 (50%) chance that the pregnancy will inherit the trait from only one parents and be a carrier, like the parents, or a 1 in 4 (25%) chance that the pregnancy will not inherit the trait from either parent and will not be a carrier or have disease.

Even when there is no obvious family history of a disease, there is still a risk that any individual may be a carrier for a recessive disease based ethnic background. Carrier status for a recessive disease is commonly passed silently from generation to generation. Frequently, carriers are identified only by a specific genetic test. Following is a table listing some of the more common diseases and carrier frequencies in different ethnic groups

 

Ethnic Group

Disease

Carrier Frequency

Ashkenazi Jewish

 

Canavan Disease

1 in 40  (2.5%)

Tay Sachs Disease

1 in 30  (3%)

Cystic Fibrosis

1 in 25-29 (4%)

Familial Dysautonomia

1 in 30 32 (3%)

African American / West Africa

Sickle Cell Anemia

1 in 6 – 12  (8 - 16%)

Other Hemoglobinopathies

1 in 30 – 75 (up to 3%)

European Caucasians

Cystic Fibrosis

1 in 25 - 29 (4%)

Mediterranean / South Asian

Beta Thalassemia

1 in 20 - 30  (3 - 5%)

SE Asian  (Loas,  Vietnam, Thailand)

Alpha Thalassemia

1 in 20  (5%)

Beta Thalassemia

1 in 30 (3%)


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