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
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
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
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.
If this disease causes such problems, one may wonder what causes it? Many fanatics of life science have established that hemophilia is the consequence of a mutation or change in one of the genes. This gene is the gene that provides instructions for making the clotting factor
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,
Haemophilia is a genetic disorder that is passed through generations on the x chromosomes, that affects the clotting factor in the blood and makes patients more prone to spontaneous and injury-resulted bleeding which is usually internal. According to the Haemophilia Foundation Australia (2015), there are over 3,000 cases of haemophilia in Australia, and more than half the cases are in males. The National Haemophilia Foundation (2013) website shows that cases of haemophilia go back to the 2n d century, where Jewish boys who have records of uncontrollable bleeding leading to death in their family do not have to undergo circumcision, also cases in 10th century Arabia show deaths of males after uncontrollable bleeding due to trauma. The first
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
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
Lastly hemophilia C is the rarest and occurs in 1 in 100,000 of the general population. Most people have the severe type of this disorder. Hemophilia doesn’t occur mainly to a specific race but mainly occurs in men because hemophilia is an X-linked disorder. To make a diagnosis doctors take a blood test to determine if blood is clotting correctly, if not doctors will do clotting factor tests, called factor assays to conclude the type and severity of hemophilia that the patient has. As of today there are no known cures for hemophilia yet, but there are some treatments available for the bleeding and symptoms of this mutation. The main treatment for the symptoms of hemophilia is injecting the clotting protein into the patient's vein, this is called replacement therapy, these injected proteins can be made from human blood, there is a small chance that a patient being treated with another humans blood can get an infectious disease. However to prevent getting that you can take the treatment that is not made from human blood, called recombinant clotting factors. This treatment can be easily used and stored at home and can take fifteen minutes to receive
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
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.
Hemophilia also known as the royal disease originated in England in the 19th and 20th century, It is a sex-linked disease that is carried in the X chromosome and, therefore; has a much higher frequency in males. This genetic disorder prevents blood from clotting causing the afflicted individual to bleed out. When someone has hemophilia their blood has complications clotting thus clotting factors are either decreased in quantity, absent, or improperly formed. Even one inactive clotting factor can cause an individual affected with the disease to lose great amounts of blood. (J. Wilson, 592)
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
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.