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Blood testing could help isolate genetic disease

Category: Coagulation and blood clotting disorders

Some people are more likely to develop blood clots than others. This can be tied to lifestyle choices like diet and exercise, but there are also genetic markers that can indicate whether a person is likely to form clots. Blood tests can show if the tendencies to clot more or hemorrhage are present, as some common disorders in platelet bonding can cause one symptom or the other, though both are tied to the same illness.

Researchers at the Life Sciences Institute recently released the results of a study that looked at genetic ties between family groups, specifically targeting young siblings in order to see the correlation in a specific clotting-related syndrome. Von Willebrand disease is associated with problems in blood cell bonding mechanisms, making people with the condition likely to form clots or bleed profusely, depending on how the condition is expressed. Blood testing was used on this group of people, targeting subjects in their 20s to avoid side effects from factors like prolonged smoking, increased age and poor lifestyle.

They found that those carrying two specific genetic markers on various parts of the chromosome chain would express one kind of Von Willebrand or the other, providing hope that scientists may be able to engineer better treatments in the future now that they know which genetic sequences to target.

Changing the future of clots
Blood clots are a growing problem for many Americans, the National Blood Clot Alliance noted, as poor diet and lack of exercise increase the likelihood of platelets clumping in arteries and other vessels. Prolonged sitting can even build thromboses in the legs and feet, which in turn could break off and float to the heart or brain. Once that happens, people are at huge risk for stroke or heart attack.

In patients without genetic disorders, altering these factors could reduce or eliminate the chance of forming a clot. However, for people with specific inherited illnesses, the use of prescription medications and regular blood tests may be the best way to detect these problems and keep them under control. Whether it's a tendency to bleed excessively or an increased clotting factor, gaining better understanding of Von Willebrand disease may be able to help doctors treat other kinds of illnesses with these same symptoms.

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