Resistance Assay Lab Report

DVT (deep vein thrombosis) is a blood clot that develops in the leg, thigh or pelvis. Although it is not common during pregnancy (only 1-2 pregnant women out of 1,000 experience it), pregnant women are 5 times more likely to have DVT than non-pregnant women.

Hemophilia A is an X-linked disorder caused by a deficient or defective clotting factor VIII (FVIII) protein, and characterized by spontaneous or traumatic bleeding into joints and muscles [Ragni]. It causes afflicted individuals to not be able to coagulate their blood very efficiently or at all when getting an injury in which blood is exposed either internally or externally. This disease can be very dangerous and fatal because major blood loss can occur if the patient has not received treatment.

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

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,

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

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

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.

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).

Hemophilia is a rare blood condition in which an individual’s blood cannot clot appropriately to stop bleeding. There are two types of Hemophilia, Hemophilia A and Hemophilia B. This paper will be focusing on Hemophilia A, also known as classic hemophilia. “Hemophilia A is a genetic disorder caused by a missing or defective factor VIII, a clotting protein” (National Hemophilia Foundation, n.d., para. 1). Clotting proteins work with cell fragments called platelets to stop bleeding. “When blood vessels are injured, clotting factors help platelets stick together to plug cuts and breaks on the vessels and stop bleeding (National Heart, Lung, and Blood Institute, 2013, para.

"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,

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 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.

Hemophilia A is caused by a factor VIII gene and Hemophilia B is caused by a factor IX gene, these genes are found only on the X chromosome.

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.

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.