Resistance Assay Lab Report

To treat the DVT, the blood-thinning agent heparin will be injected daily to stop the clot getting bigger, help the clot dissolve in the body,

A genetic disorder that affects the blood vessels when injured that results in clotting is Hemophilia. This inherited disorder is not contagious and is found through various lab tests such as a blood clotting test. The way someone can be aware if they could encounter Hemophilia is simply by viewing their medical history,

"Microangiopathic hemolytic anemia (MAHA)" is now used to designate any hemolytic anemia related to RBC fragmentation, occurring in association with small vessel disease. In DIC, RBC fragmentation is thought to result from the deposition of fibrin or platelets within the microvasculature. The term "thrombotic microangiopathy (TMA)" is also used to describe syndromes characterized by MAHA, thrombocytopenia, and thrombotic lesions in small blood vessels. The most prominent diagnoses associated with TMA are thrombotic thrombocytopenic purpura (TTP) and hemolytic uremic syndrome (HUS). Many different disorders, including preeclampsia, infections, adverse drug reactions, hematopoietic stem cell transplantation, autoimmune diseases, and malignancies,

Factor V Leiden as named after the Dutch city Leiden in which it was discovered. Factor V Leiden is a genetic blood clotting disorder that results from a mutation of the Factor V gene. Most of the time you will inherit Factor V Leiden from your family. If kept under control blood clots are mostly harmless, but if left uncared you can have a piece of the blood clot break and enter your lung there it will cause serious damage like a heart attack or stroke.

Cerebral venous thrombosis (CVT) is a rare type of cerebrovascular disease, accounting for 0.5% of all strokes. The annual incidence of CVT ranges 3–4 cases per million populations CVT is a multifactorial disease, with at least one predisposing factor identified in 80% of patients, including hereditary thrombophilia, pregnancy and puerperium, postoperative state, intracranial or local infections and use of oral contraceptives. Genetic or acquired thrombophilia, identified in more than 20% of the CVT patients, is among the most frequent identified risk

PE and DVT are two clinical presentations of venous thrombo-embolism and offer the same predisposing factors. In many cases PE is a result of DVT (Pitts et al., 2008).

Compression stockings and brief walks to promote blood circulation can aid in resolving and also preventing DVTs. Findings from clinical trials have shown the effectiveness and safety of pharmacological prevention with low, fixed doses of anticoagulant drugs (Goldhaber). “Although approximately half of venous thrombotic events treated with traditional anticoagulant blood thinners resolve during a 3 to 6 month conventional duration, the risk of Post Thrombotic syndrome (PTS) persists, possibly due to acute valvular damage from complete venous obstruction (Greene). Anticoagulants have been recommended for at least 3 months, though duration of this therapy should be based on the risk of recurrence as well as whether the blood clot has

The purpose of the laboratory experimentation is to screen human genomic DNA for mutations in the HFE gene, which are linked to hereditary hemochromatosis (Bates et al., 2008). This is important because by amplifying the exons 2 and 4 within the HFE gene the single nucleotide mutations will be detected and analyzed to better understand the cause of hemochromatosis. The mutations of main focus as mentioned previously are the C187G nucleotide change within exon 2 and the G845A nucleotide change within exon 4. These are the main focus because they directly alter the shape and function of restriction sites necessary for regulation of iron in the body. The experimentation was completed using common techniques of PCR amplification, restriction digest, and gel electrophoresis.

Hemophilia is a hereditary and genetic mutation blood disease that does not have the ability to form a blood clot or coagulate from a small injury. The word hemophilia comes from two Greek words: haima - meaning blood and philia meaning to love. In order for the blood to clot properly, the plasma proteins also called factors need to be present in the blood. When the body forms antibodies to the clotting factors in the blood, it will stop the clotting factors from working. There are 13 types of clotting factors and they involve platelets to help the blood coagulate. Platelets also known as thrombocytes are small blood cells that form in your bone marrow to prevent blood loss by initiating a blood clot.

Hemophilia is the oldest known hereditary bleeding disorder. There are two types of hemophilia, A and B (Christmas Disease). Low levels or complete absence of a blood protein essential for clotting causes both. Patients with hemophilia A lack the blood clotting protein, factor VIII, and those with hemophilia B lack factor IX. A person with severe hemophilia has less than 1% of the normal amount of a clotting factor - either Factor VIII (8) or Factor IX (9). People without hemophilia have between 50-150% of the normal level of factor VIII or IX. There are about 20,000 hemophilia patients in the United States. Each year, about 400 babies are born with this disorder. Approximately 85% have hemophilia A and the remainder has hemophilia B.

Factor V, Leiden Thrombophilia, is an inherited blood clotting disorder. This is a mutation in the Factor V protein that causes blood clots. It is a very common genetic disorder. The reason for being named Factor V is because of the mutation it causes. Thrombophilia is an increased tendency to form abnormal blood clots that block the blood vessels. This genetic disorder has a lot of symptoms that can affect one's daily life. The treatment provided for this disorder is to eliminate the pain it causes because there is no cure for Factor V. The patient's care and medical intervention can influence the patient's outcome.

Factor V Leiden is the most common inherited form of thrombophilia (Stammers, Dorion, Trowbridge, Yen, Klayman, Murdock & Gilbert, 2005). Between 3 and 8 percent of people with European ancestry carry one copy of the factor V Leiden mutation in each cell, and about 1 in 5,000 people have two copies of the mutation (Stammers, Dorion, Trowbridge, Yen, Klayman, Murdock & Gilbert, 2005). People who inherit two copies of the mutation, one from each parent, have a higher risk of developing a clot than people who inherit one copy of the mutation. Considering that about 1 in 1,000 people per year in the general population will develop an abnormal blood clot, the presence of one copy of the factor V Leiden mutation increases that risk to 3 to 8 in 1,000, and having two copies of the mutation may raise the risk to as high as 80 in 1,000 (Stammers, Dorion, Trowbridge, Yen, Klayman, Murdock & Gilbert, 2005). Although, only about 10 percent of individuals with the factor V Leiden mutation ever develop

Occasionally a baby is born with this disorder and no family history of it. When this happens, it could be caused by a hidden gene, which is when several generations of female carry it, and it has not affected any male members of the family or a spontaneous mutation. With each pregnancy, a woman who is a carrier has a 25% possibility of having a son born with hemophilia. Since the father's X chromosome is what determines if the unborn child will be a girl, all of the daughters born of a man with hemophilia will be carriers. None of his sons, which is determined by the father through his Y chromosome, will have hemophilia. Individuals who suffer from mild hemophilia may choose to use a non-blood product known as Desmopressin acetate (DDAVP) to help treat the small bleeds and/or scrapes. For deep cuts or internal bleeding, the treatment called DDAVP may not be enough and therefore, may need a much more complex treatment. The clotting factor must be replenished so the affected person can form a clot to stop the bleeding. Plasma is one of the ‘human blood products’ than is used for factor replacement. Another factor replacement option is using the recombinant factor, which is produced in a laboratory.

We measured a panel of prothrombotic risk factors (Table 1) and detected hyperhomocysteinemia, and 4 heterozygous gene mutations, including MTHFR C677T and A1298C, glycoprotein GP3A and Fibrinogen- β G/A-455. Electrocardiogram and chest x-ray were normal, as well as the remaining routine laboratory tests, including differential blood cell count, protrombin and partial thromboplastin times, serum glucose, creatinine, electrolytes, liver enzymes, calcium, vitamin B12 and folate. Anti-nuclear, anti–single-stranded DNA, anti–double-stranded DNA, anti-cardiolipin, anti–SS-A/B antibodies were negative. She was treated with dexamethasone 5mg twice daily and LMW heparin (enoxaparin 60 mg twice

-anti-intrinsic factor antibodies: a test that indicates pernicious anemia by detecting intrinsic factor antibodies in the blood