Human beings contain tens of thousands of genes that decide what characteristic will each person have from the color of their eyes to their risk of contracting various disease. Amazingly, one misplaced gene can change a person life forever. For instance,is a rare bleeding disorder in which the blood doesn't clot normally. Hemophilia is a genetic disease where there is a defect in the series of protein that forms blood clots. The series of proteins is called the coagulation cascade in which each factor activate each other in chain reaction. The last to to activate is factor 10a which in turn activates thrombin. Thrombin is an enzyme that converts fibrinogen to fibrin. The large amounts of fibrin then forms long strands and merges with platelets
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.
The other major genetic causes of venous thrombosis (deficiencies of protein C and S) together account for only 5-10% of cases. Factor V Leiden increases the risk of venous thrombosis 3-8 times for heterozygous (one bad gene inherited) and substantially more, 30-140 times for homozygous (two bad gene inherited) individuals. 2% of the general population was found to be heterozygous. Risk is increased still further in situations such as pregnancy, oral contraceptive use, estrogen therapy, malignancy, diabetes mellitus, immobilization, surgery, trauma, high blood pressure, obesity, smoking or long time travel (commonly called economy class syndrome). In these cases risk of clotting can increase dramatically.
According to the National Hemophilia Foundation (n.d.), von Willebrand disease (VWD) is a genetic disorder caused by missing or defective von Willebrand factor (VWF), a clotting protein. VWF binds factor VIII, a key clotting protein, and platelets in blood vessel walls, which help form a platelet plug during the clotting process. The condition is named after Finnish physician Erik von Willebrand, who first described it in the 1920s (National Hemophilia Foundation, n.d.). The seriousness of the bleeding varied between family
Hemophilia is an X-linked recessive disease in which blood lacks blood-clotting proteins. Females have two X chromosomes, indicating that they are generally carriers and transmit the gene to their sons. People with mild hemophilia bleed after surgery, injury, or trauma. Severe hemophilia produces spontaneous internal bleeding in joints and muscles. Fortunately, medicines and lifestyle changes offers hemophiliacs fairly normal lives. Through learning about hemophilia, I became interested in genetic diseases and finding a cure for those
The genetic disorder of Hemophilia is where the clotting factors of the blood are absent or deficient, causing it to be a dangerous disorder to the people who have it. This disorder is where the people who have it will bleed easily and accessibly. Different types of hemophilia are classified by different deficient clotting factors in the blood. Treatments for hemophilia are available, including transfusions of frozen
Essential Thromboycythemia, also sometimes referred to as idiopathic thrombocythemia, essential thrombocytosis and ET, is a rare blood disorder. Those affected with this disorder produce too many blood platelets. Platelets also known as thrombocytes are colorless blood cells that aide in the stopping of bleeding when an injury has occurred. While the platelet counts in a person with ET are high the red and white blood cell counts of those individuals are generally normal. Occasionally one might have a slightly elevated number of white blood cells too. Often times symptoms of thrombocythemia will become apparent when a blood clot forms somewhere in the body. Increased number of platelets in the blood make the propensity to form a blood clot a huge risk. Symptoms of essential thrombocythemia are largely based on where a clot may have formed in the body. Some symptoms include but are not limited to: fatigue, headache, feelings of being lightheaded, noticeable changes in eyesight clarity, dizziness, chest pain, erythromelagia (redness, throbbing, or burnig in the hands and feet). Some less common symptoms may also include spontaneous
Thrombin is a naturally occurring protein that is present in the blood of humans and animals. The main function of thrombin is as an intermediate step during hemostasis, which slows bleeding by forming blood clots. Thrombin acts as an enzyme during an injury, converting fibrinogen to fibrin, which then causes blood clots to form. Due to its properties, thrombin’s application to the medical field includes topical surgery in the case of minor injuries as well as various other medical procedures such as neurosurgical operations. Apart from applications in the medical field, thrombin also plays significant roles by directly interacting with endothelial cells throughout the body.
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.
Blood is essential to human life. It carries oxygen, nutrients and hormones all through your body with a strong pump from the heart. Steven’s inability to stop bleeding could be detrimental to his health. There are many bleeding disorders existing today but the main, most common ones are limited to hemophilia A, hemophilia B, and von Willebrand disease. Von Willebrand disease is carried on chromosome 12 and occurs equally in men and women, unlike hemophilia which is an x linked disorder typically affecting males more often. There are many other rare forms of hemophilia with deficiencies in clotting factor 1, 2, 5, 7, 10, 11, 12, and 13 but type A and B specifically involve defective genes relating to factor 8 and 9, respectively. Through the
He cut his small toe when he was one year old. There was unusual bleeding. He was given a blood transfusion at a local hospital. He started bleeding frequently from different sites such as, his gums, nose and ears. At the age of four, he bled from his forehead and hip after a fall. He was tested at Christian Medical College Hospital, Vellore and he was diagnosed as having Type ‘A’ Hemophilia with severity at less than 1 %.
Hemophilia (sometimes spelled haemophilia) is a rare genetic blood disorder which prevents blood from clotting normally. There are two types of hemophilia, and they are hemophilia A and hemophilia B. Hemophilia A is also called classic hemophilia, and is caused by a mutated or missing factor VIII, which is a clotting protein. Hemophilia B is sometimes called Christmas disease, because the disorder was first reported in a patient with the last name Christmas. Hemophilia B is caused by a mutated or missing factor XI, which is also a clotting protein.
In 1903 Rasputin's wanderings brought him to St. Petersburg, where he arrived with a reputation as a mystic and faith healer. Two years later he was introduced to Russian Czar Nicholas II and his wife Alexandra Feodorovna, They were seeking help for their sick son, Alexis. Rasputin gained their confidence by "curing" the boy of hemophilia. This action won him the support of Alexandra. As Russia entered World War I Rasputin predicted that the country would fall. Nicholas II took command of the Russian Army in 1915. Alexandra was always Rasputin's defender, she refused ministers who were said to be suspicious of the "mad monk." Government officials tried to warn her of Rasputin's bad behavior, but she continued to defend him. On the night of
The last scenario and blood disorder is Spencer, who over the past several weeks is having more bruises, or ecchymosis, all over his body. After coughing this morning, Spencer noticed tiny red marks all around his eyes. Spencer is showing signs of thrombocytopenia. Thrombocytopenia is a condition of the blood in which the blood doesn’t clot properly because there are not enough platelets. This condition can be caused by many different things such as decreased platelet production, increased platelet
The main treatment for haemophilia A is called replacement therapy and uses a concentrated FVIII product, called clotting factor or simply factor, to replace the clotting factor which is missing. Factor VIII products can be made from human-derived pools of donor-sourced plasma from blood, the risk of contracting an infectious disease from the which has been treated to prevent spread of diseases like hepatitis. Due to the through treating and screening of the donated blood, the risks of contracting an infectious disease from the clotting factor treatment is very small. Alternatively, this risk can be eliminated by the use of a new form of the original clotting factor called recombinant factor products, which are developed in a lab through the use of DNA technology, and preclude the use of human-derived pools of donor-sourced plasma. Approximately 75% of the haemophilia community takes a recombinant FVIII product instead of the clotting face derived of donated plasma, and the Medical and Scientific Advisory Council (MASAC) of the National Haemophilia Foundation encourages the use of recombinant clotting factor products instead because they are safer than alternate methods and the use of Factor VIII product made from donated plasma. These factor therapies are infused intravenously through a vein in the arm or a port in
Hemophilia is a problem with the blood in a person that causes them to bleed not any faster than normal, but they often bleed for a longer period. Their blood is missing the clotting factor (a protein in the bloodstream that works to control bleeding). Hemophilia is quite rare; roughly 1 in every 10,000 persons are born with it. Rarely, hemophilia can be an acquired disease which just means a person is not born with it, but will develop it during their lifetime. This rarity occurs when a person's immune system forms antibodies that attack the clotting factor in the blood. The entire antibody population fights against the blood to prevent the clotting factors from working properly.