Genetics

Genetic testing screens patients as potential carriers of diseases caused by gene mutations. Common genetic tests include screening newborns for genetic disorders and testing patients as carriers of potentially harmful diseases.  Testing can also be a predictive screening tool to indentify a patient’s likelihood of developing a disease affecting a family member, such as cancer.

Genetics and Blood Clotting

A genetic mutation in DNA can produce too much of a specific protein or create an irregularly-shaped protein. Individuals who inherit thrombophilia through a DNA mutation may have too much or too little production of a blood clotting protein or have their blood clotting protein not function properly. The two most common DNA mutations responsible for for thrombophilia are factor V Leiden and prothrombin 20210A.

The factor V gene is used to make factor V protein. An individual with a mutated factor V gene will have an abnormally-shaped protein C, which prevents factor V from breaking down properly and clotting because of the remaining factor V protein left in circulation.  Prothrombin 20210A (also known as factor II mutation) describes the DNA mutation in the gene used to make prothrombin protein. A mutation in the prothrombin gene will produce more of this protein, resulting in more prothrombin proteins in the circulation system and increased tendency for the blood to clot.

Factor V Leiden and Factor II mutation are commonly found in Caucasian populations, with about 2-4% of people affected worldwide. In the United States, African Americans, Native Americans, and Asian Americans are rarely affected.