There are two types of Hemophilia, type A and type B, Hemophilia A is associated with blood clots after injury or a type of surgery, Hemophilia A is a disease in which a type of protein that is used to stop clotting is changed or mutated. This all starts after the bleeding has begun, little molecules send out a signal for a protein called factor 12 to be activated, then this protein goes on to activate other proteins till the protein Fibrinogen is activated which stops the bleed and forms a stable clot, but, when Hemophilia is brought in, this can cause major problems. It occurs in the factor 8 gene. Hemophilia causes this gene to be mutated, which is located on the X chromosome. The instructions for making the gene are altered which makes the protein changed as well. In a minor case only a small part of …show more content…
A mutation called an inversion is present which entirely changes the gene up to the point where it can't even make it which then causes the absence of the factor 8 protein. Symptoms include Severe or light bleeding due to the unstable clot which doesn’t do its job properly. Continuous bleeding will occur and can result in major complications of the joints, organs, brain, muscles, and others. In infants, bruising can be in effect all around the body after his/her first birthday, and bleeding(even from a tooth eruption). This is a sex-linked disease which effect about one in every four thousand or five thousand males no matter the ethnic group, but in females, it is even rarer. One of the people who came by this disease was Paul. Paul is from colorado and would always get injections from his own mom who was a nurse when he was an infant. He went to a Hemophilia camp in colorado and would practice injecting his treatment into practice objects so he could do it one day to himself. Paul said that he couldn’t really be apart of everyday life with people and the crowd because he always had to worry about the bleeding and hardships of
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.
According to the CDC website, Hemophilia, is a hereditary bleeding disorder which affects mostly males due to X chromosome singularity. Hemophilia is a medical condition in which the blood clotting becomes a challenge for those affected. Symptoms include spontaneous bleeding from injuries or surgery. Blood contains many proteins called clotting factors that assist in blood coagulation, however; those individuals with hemophilia have low levels of either factor VIII or factor IX. The severity of the condition is determined by the amount of factor in the blood thus the lower the amount of the factor, the higher the chances that spontaneous bleeding will occur leading to more severe health complications.
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
A large number of mutations for Hemophilia A have been detected and identified. The most common mutation found is the intron twenty-two inversion and intron one inversion of the Factor VIII gene. This mutation occurs in 40-50 percent of people with Hemophilia A. It is caused by the homologous recombination between copies of a DNA sequence. One copy is located on the intron 22 region of factor VIII and the other copies are distal to the factor VIII. Intron one of the factor VIII gene occurs when the factor VIII gene is split which results in the production of two chimeric mRNAs. One of the mRNA has have the exon of the factor VIII and the exons 2-6 on the exon gene of the VBP1 gene, which codes for the subunit of prefolding. The second mRNA has all exons except the last exon of the BRCC3 gene. Other patients that have Hemophilia A acquire 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.
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.
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
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 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.
Hemophilia is a bleeding disorder that slows down the blood clotting process. People who have hemophilia often have longer bleeding after an injury or surgery. People who have severe hemophilia have spontaneous bleeding into the joints and muscles. Hemophilia occurs more commonly in males than in females.
Hemophilia A is a sex linked genetic disease that is a common coagulation disorder (Molecular Genetics of Hemophilia A). It causes infected individuals to not be able to coagulate their blood very efficiently or at all when getting a cut or an injury in which blood is exposed. This disease can be very dangerous and fatal because major blood loss can occur if the patient is not treated.
Disease cause: For the two types of hemophilia(A and B), A is caused by mutations in the F8 gene and mutations in the F9 gene causes hemophilia B. These genes create proteins that are vital in blood clotting, also called coagulation factors. The mutations make them unable to work the ways they need to, which leads to
Hemophilia is a medical condition in which the ability of the blood to clot is severely reduced, causing the sufferer to bleed severely form even a slight injury. This causes people to bleed for long periods of time, since
Hemophilia is usually an inherited disorder, which is transmitted from parents to children through genetic heritage; those suffering from hemophilia have clotting factors, or have them in sufficient quantity. The clotting factors are different proteins necessary for normal blood clotting that work in synergy with platelets to promote the coagulation of the blood.