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Protein C deficiency: Protein C is a protein in plasmathat enters into the cascade of biochemical events leading to the formation of a clot.Deficiency of protein C results in thrombotic (clotting) disease and excess platelets withrecurrent thrombophlebitis (inflammation of the vein that occurs when a clot forms). Theclot can break loose and travel through the blood stream (thromboembolism) to the lungscausing a pulmonary embolism, brain causing a stroke ( cerebrovascular accident), heart causing a heart attack, skin causing what in the newborn is called neonatalpurpura fulminans, the adrenal gland causing hemorrhage with abdominal pain,abnormally low blood pressure ( hypotension), and salt loss. Protein C deficiency isdue to possession of one gene (heterozygosity) in chromosome band 2q13-14. The possessionof two such genes (homozygosity) is usually lethal.

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