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IHG kits currently available (Capillary Electrophoresis platform) | IHG reagent kits available in the near future |
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IHG kits currently available (Capillary Electrophoresis platform)Coagulation Disorders
Factor V FVL is the most common inherited coagulation disorder. Between 3 and 8 percent of the Caucasian (white) Further information: Prothrombin (PTR) The prothrombin G20210A mutation is the second most common inherited clotting abnormality with heterozygotes having a 3-6 fold greater risk of thrombosis. PTR is only a mild risk factor for clots but together with other risk factors or combined with other clotting disorders the risk of clotting increases dramatically. Further information:
Methylenetetrahydrofolate reductase (MTHFR) 5,10-methylenetetrahydrofolate reductase is the metabolic enzyme involved in the conversion of homocysteine to methionine. Reduced levels of MTHFR activity (such as those caused by the C677T mutation) lead to elevated levels of homocysteine. This is referred to as hyperhomocysteinemia and is a risk factor or both arterial and venous thrombosis. Possession of the MTHFR mutation can lead to a 5 fold increased risk of clotting. Further information:
The three coagulation disorders and associated mutations described above can be a significant risk factor of particular relevance in the following circumstances: Birth control pills All women have a risk (about 4 fold) of having a blood clot while taking the contraceptive pill. For a woman with one FVL mutation, this risk increases 30 to 35 times. If a woman inherits one PTR mutation, the risk is 3 fold higher. For women with more than one mutation, the risk is 100 times higher. Hormone replacement therapy (HRT) All women have a risk (about 2 to 4 fold) of having a blood clot while taking HRT. For a woman with one FVL mutation, the risk increases to 13 to 15 fold. For women with two mutations, the risk is even higher. Pregnancy Blood clots are the major cause of maternal death during pregnancy. All pregnant women have a risk (about 5 to 6 fold) of having a blood clot. For a woman with one FVL mutation, this risk increases 7 to 16 fold. For women with two mutations, the risk is 40 fold. Surgery There is always a risk of having a blood clot during surgery or recovery from surgery. For a person with a FVL mutation the risk increases about 20 fold. Long haul flights or other trips A person with an inherited coagulation disorder has a greater risk of developing a blood clot during long distance travel (3 hours or more), perhaps up to 100 fold. The presence of two mutations increases the risk 3 fold above the risk of a single mutation. With prophylaxis, appropriate awareness and management, these risks can be significantly reduced and in some cases removed completely. Cancer The risk of venous thrombosis in cancer patients is 7 fold higher than that of healthy patients. Patients with leukaemia have a 28 fold risk of thrombosis. Carriers of FVL and PTR have a 12 fold higher risk of thrombosis than those individuals with this mutation who do not have cancer. It has been recommended to consider prophylactic coagulant therapy for patients with cancer who have an increased risk of venous thrombosis IHG reagent kits available in the near future• Phenylketonuria: PAH gene • Sickle-cell disease: beta-globin gene • Haemochromatosis C282Y and H63D • beta-thalassaemia: HBB gene • Cystic fibrosis: CFTR gene • Von Willebrand’s disease: vWF gene, 2A, 2B and 2N variants • Mannan-binding protein deficiency: MBL gene • TPMT* (IHG-RT-PCR) • ApoE • ApoA IV • Stromelysin-1 5T/6T • BChE • Factor XIII • HLA-A, B, C, DRB* • N-Ras • Cytokine gene promoter polymorphisms: IL10*, TNFSF2*, IL6, TGFB*, IL1B * = haplotyping IHGs |
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