Hemophilia Research Paper

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

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.

Hemophilia is a rare genetic blood clotting disorder that primarily affects males. People living with hemophilia do not have enough of, or are missing, one of the blood clotting proteins naturally found in blood. Two of the most common forms of hemophilia are A and B. In persons with hemophilia A (also called classic hemophilia), clotting factor VIII is not present in sufficient amounts or is absent. In persons with hemophilia B (also called Christmas disease), clotting factor IX is not present in sufficient amounts or is absent. People with hemophilia do not bleed more profusely or bleed faster than normal; they bleed for a longer period of time.

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

During this step, the body has one primary goal; Stop the bleeding (coagulate the blood). In order to reach this goal, as series of clotting factor proteins have

Typically, when a human body has a sufficient amount of iron, it will reduce its intake of iron. However, within certain bodies, it is always under the impression that there isn’t enough. Thus, it continues to absorb more iron and this iron overload is the result of a disease called hemochromatosis. Generally, the excess iron builds up in the joints, liver, heart, and other organs which can lead to symptoms that include physical difficulty, joint pain, and an irregular heartbeat. However, the symptoms alone is not enough when it comes to diagnosing hemochromatosis. Therefore, taking part in blood, liver, and/or DNA testing will be more accurate. After diagnosing hemochromatosis, people can undergo treatments such as the medical procedure called bloodletting. By

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

Hemophilia is an inherited bleeding disorder that is passed from mother to son. This affliction is passed in such a way due to the fact that the gene that is responsible for hemophilia is carried on the X chromosome that the child receives from his mother. For someone to be afflicted by hemophilia means that their blood has a difficult time clotting. There people do not bleed any faster than the average person, they simply cannot stop bleeding once they start bleeding. As of this current moment, there are no known cures for hemophilia, but there are many treatments that are highly effective in helping to treat many of the issues associated with the bleeding disorder. (citation)

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 A is the most common clotting disorder which “…accounts for approximately 85% of… [Hemophilia cases].” (Copstead-Kirkhorn, 2012, pp. 304) The cause for this clotting disorder is the deficiency of clotting factor VIII. With this factor lacking, a patient can experience abnormal bleeding accompanied by a prolonged clotting time. This disorder is also classified as X-Linked recessive. Thus, if the father has Hemophilia A and the mother does not, there is a 50% chance that the sons will have the disorder and 50% chance that the daughters will be a carrier of the disorder. It only takes one infected X chromosome to spread

Hemophilia A and Hemophilia B are inherited bleeding conditions where the blood does not properly coagulate (Center for Disease Control and Prevention 2014)2. The inheritance of hemophilia progresses through a carrying of the gene inflicted and is passed on via mother to child at the time of conception. X and Y chromosomes are distinguished as being the sex hormones of the human body. Hemophilia-A in a sex-linked recessive trait disorder located on the X chromosome and otherwise absent on the Y chromosome. Being that it is located only on the X chromosome, if a son is conceived carrying the gene the disorder will inevitably develop. While in the case of females, for the disease to manifest the carrier for the gene must be on both X chromosomes which is noted to be more. Though most hemophilia diagnosis are associated with males, the chance for the inheritance

Symptoms of haemophilia in young children include, excessive gum bleeding while teething, excessive bleeding from cuts in the mouth and easy or unexplained bruising after falls. Usually children do not get spontaneous joint bleeding until after the age of two. As children get older the symptoms can extend to excessive bleeding when teeth are lost, blood in the urine, surface bruising and the previously mentioned spontaneous bleeding into joints and soft tissue. As children grow older they tend to find ways to keeps the symptoms from affecting their everyday life through experience (This does not mean that the haemophilia is any less severe). Treatments such as pain medications and factor replacement products can be used to lessen joint pain and to make the symptoms less severe, though there is no cure for haemophilia at this time. The severity of the disorder depends on the amount of the factor VIII protein is prevalent in the afflicted. The amount of factor VIII needed for a person to not have the disorder is 50% to 150%, the amount needed for a mild severity is 5%-40%, the amount needed for a moderate severity is 1% to 5% and the amount needed for a high severity is less than

Hemophilia is a very serious bleeding disorder affecting humans all over the world (Mc Partland, 2016). People suspected to be affected by the disorder normally portray physical features associated with either excessive bleeding or easy bruising. The symptoms of the disease are different depending on the type of hemophilia and also the level of the disorder for example severe hemophilia is associated with excessive bleeding after injuries (Zerwekh, Miller, & Claborn, 2012). The degree of

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.