Protein C deficiency, ..., (Protein C deficiency) - Gen PROC
The protein C deficiency, also known as hereditary thrombophilia protein C deficiency, is a process that increases the risk of developing abnormal blood clots. This process can range from mild to severe.
Individuals with mild protein C deficiency are at risk of a blood clot type known as deep vein thrombosis (DVT). These clots occur in the deep veins of the arms or legs, away from the surface of the skin. DVT may circulate through the bloodstream and lodge in the lungs causing a pulmonary embolism. While most people with mild protein C deficiency never develop abnormal blood clots, certain factors increase the risk of development. These factors include advanced age, surgery, physical inactivity or pregnancy. Likewise, another suffer hereditary disorder of blood coagulation, in addition to protein C deficiency, may also influence the risk of abnormal blood clotting.
In severe cases of protein C deficiency, newborns develop shortly after birth a coagulopathy life threatening known as purpura fulminans (fulminans). Purpura fulminans is characterized by the formation of blood clots in small blood vessels throughout the body. These clots block normal blood flow and can lead to necrosis. The widespread blood clotting proteins used all available blood clotting. As a result, abnormal bleeding occurs in various parts of the body, which can cause large areas of purple skin. People who survive the neonatal period may suffer recurrent episodes of fulminant purpura.
The protein C deficiency is due to alterations in gene PROC (Protein C, inactivator of coagulation factors Va and VIIIa), located on the long arm of chromosome 2 (2q14.3). This gene encodes the synthesis of protein C, a protein that is important in regulating blood coagulation. Protein C blocking the activity of two proteins that promote formation of blood clots, called factor Va and factor VIIIa. Protein C is also involved in the control of inflammation. Protein C is synthesized in the liver and subsequently released into the bloodstream. The protein remains inactive until it binds to thrombin, which converts to activated protein C (APC). APC cleaves factor Va protein in specific locations, which partially or completely inactive Va (the inactive form) factor. The APC then acts with Factor V to inactivate factor VIIIa.
They have been described at least 270 mutations in the gene responsible for PROC protein C deficiency Most of these mutations consist of amino acid changes in the C protein, disrupting its ability to regulate blood clotting. The protein C deficiency may be classified into two types based on the mutation in the gene PROC. The protein C deficiency type I is due to mutations PROC gene result in reduced levels of protein C. Affected individuals have sufficient C protein to regulate blood clotting, resulting in the increased risk of developing abnormal blood clots . The mutations responsible for the type II, leading to the synthesis of a C protein altered with reduced activity. People with this form have normal levels of protein C, but the protein is not able to interact with other molecules involved in blood clotting.
The protein C deficiency is inherited as an autosomal dominant, which means that an altered copy of the gene in every cell PROC is sufficient to cause mild protein C deficiency Individuals who inherit two copies of the gene altered in every cell they have serious deficiency of protein C.
Tests in IVAMI: in IVAMI perform detection of mutations associated with protein C deficiency, by complete PCR amplification of exons PROC gene, and subsequent sequencing.
Samples recommended: EDTA blood collected for separation of blood leukocytes, or impregnated sample card with dried blood (IVAMI may mail the card to deposit the blood sample).