Archive for the ‘Genetic Disorders’ Category

Hemophilia

September 9, 2011

Hemophilia A is the most common hereditary disease associated with bleeding. It is caused be a decrease in amount or activity of factor VIII. Factor VIII is an important protein involved in the coagulation process, mainly in the intrinsic pathway. Hemophiliacs have a tendency to bruise easily, and have massive hemorrhage after trauma or surgical procedures. Recurrent bleeding in joints also occurs in people with this disease. When hemophiliacs bleed, they do not bleed faster than normal, they bleed longer because the coagulation process does not function properly. This condition can lead to death and may not be diagnosed until an autopsy is performed by medical personnel, such as forensic nurses.

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Reporter in Iraq’s life cut short not by a bullet but a “blood clot”

March 6, 2011

According to the New York Times of June 10, 2008, when David Bloom went to Iraq to report on the war his wife was worried he be felled by a bullet or a bomb. He was a victim of a rare genetic abnormality, factor V Leiden, called, factor V that caused a “blood clot” that lodged in his lungs and ended his life. Mr. Bloom also had three additional risk factors: immobility from a long plane ride, irregular eating habits (grabbing a bite when he could) due to his intense schedule and cramped sleeping areas in Army vehicles. If he had not had this rare disorder or if he knew about the disorder he would have been able to take prophylaxis treatment. Factor V disorder is responsible for about a third of cases of D.V.T, deep vein thrombosis, resulting in the veinous thrombosis advancing to the pulmonary embolism and his death. After his death investigation of family shows a cousin who suffered an MI in her forties had Factor V. His grandmother died in pregnancy from a clotting event. The abnormality can increase the risk of CVA, MI, cholelithiasis, pre-eclampsia, etc. Chapter 51 in one of my textbooks discusses drugs used to prevent formation of thrombi and to dissolve thrombi that have already formed by suppressing coagulation, inhibit platelet aggregation and promote clot dissolution. The drugs fall into three major categories: anticoagulants, antiplatelet drugs and thrombolytic drugs. Mr. Bloom would have most likely taken an antiplatelet drug, aspirin, as a preventative, had he only known of his risk.

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