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Biochem. and Medical Genetics
BGEN 3020
Jason Leboe- Mcgowan

Coagulation deficiency In Coagulation deficiency, you different sign’s symptoms, such as: delayed bleeding ie go through operation with no prob, then the pt starts moving around that’s when it’s bad. When pt has an operation and they start bleeding out of the wound, the MCC is not a coagulation factor deficiency; the MCC is due to suture slipped or a bleed. When you have a coag deficiency, just have to tie it off. Example: molar extraction with constant oozing of blood b/c nothing holding those small vessels together except a temp hemostatic plug – need a tight fibrin bond to plug it up. Example: It is showing hemorrhage into the fascial compartment of the thigh. In the knee, there are repeated hemarthroses and the pt has hemophilia A. Will not see hemarthroses or bleeding into spaces with platelet abnormalities, but only coagulation factor deficiency. Must know the difference between hemophilia A and vWB Dz (these are the key coagulation deficiencies) 1. vWB Dz – missing vWF, therefore there is a platelet adhesion defect, therefore, they have all the signs and symptoms of a PLATELET problem. However, they also have a factor 8 deficiency, but it is very mild and never severe. So, they have TWO abnormalities – they have a platelet defect AND a coagulation factor defect. This is why they can have menorrhagia and GI bleedings (this the coagulation part of it); will also see history of epistaxis and they bruise easy. There are 3 parts of the factor 8 molecule: vWF, factor 8 coagulate (part of intrinsic system), 8 Ag. The 8 Ag has a carrier function: it carries around vWF and factor 8 coagulant in the blood (so it’s a chauffeur) - so it functions as a carrier protein. All 3 of these can be measured. 2. Differences in two dz’s: a) Genetics: In pts with hemophilia A it’s an X linked recessive dz, therefore males get the dz. Whereas vWDz is Autosomal dominant, and only one of the parents have to have the abnormality and 50% of the kids will have the potential to get the dz. b) Number of deficient factors: Hemophilia A only has one factor that is deficient: 8 anticoagulant; they have normal 8 Ag levels and normal vWF levels. vWDz has ALL 3 things decreased: 8 Ag, factor 8 anticoagulant (mildly decreased), and vWF. What drug can increase the synthesis of all three of these factor 8 molecules? The drug comes from ADH and is called desmopressin (ddadp). This can increase the synthesis of all three factor 8 molecules. It will help treat mild hemophilia A, and is the DOC for vWDz. In woman, if they have menorrhagia and normal everything else, you have vWDz. They put you on birth control and that took the bleeding away. In one of the cases, the Dr. ordered PT, PTT, and bleeding time tests. The tests for PT and PTT were normal and the bleed time was normal. The sensitivity for these tests is only 50%, so do not depend on these. The ristocedin cofactor assay is the test of choice for vWDz, and will be abnormal. Estrogen increases the synthesis of all factor 8 molecules. So, 2 things increase the synthesis of all the factor 8 molecules: desmopressin and birth control pills (DOC for women). Anti-phospholipids syndrome (one of the causes of spontaneous abortion) includes: Lupus anticoagulant (not an anticoagulant, but the opposite: thrombogenic) and anti-cardiolipin antibodies. Both of these antibodies cause vessel thrombosis. Lupus anticoagulant is part of the syndrome that produces vessel thrombosis. Also seen in HIV pt. Anti-cardiolipin antibodies have a history of having a biological false + syphilis serology. So, here you are with VDRL and RPR being positive. To confirm, FT ABS would be negative (test Ag is beef cardiolipin). Therefore makes the VDRL and RPR false positive, b/c the confirmatory test was negative. So why was the RPR positive in the first place, b/c the test antigen is beef cardiolipin. Therefore syphilis antibodie
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