Hemophilia Research Paper

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

Von Willebrand Disorder, abbreviated as VWD, is the most common inherited bleeding disorder. Erik von Willebrand, a Finnish scientist, first discovered it in the 1920s. Carried on the twelfth chromosome, von Willebrand causes excessive bleeding (National Hemophilia). Patients with VWD form blood clots slower, resulting in prolonged bleeding. As a lifelong condition without a cure, it can come with serious health hazards. Roughly one percent of the U.S. population, or one out of one hundred to a thousand people, have this ailment. However, other bleeding disorders, such as hemophilia, occur mainly in males, VWD affects both men and women equally. Despite who it affects, the cause behind this disorder lays on the shoulders of one specific gene,

You mentioned hemophilia so I just wanted to explain what it was. Hemophilia is an inherited disease that affects the clotting process of your blood. Therefore, if you have hemophilia you do stand a chance of sever bleeding if you incur an injury or cut. There is a protein that is called clotting factor that a person might have little or none at all. It is a protein used for blood clotting that helps blood platelets stick together. (NIH

People with hemophilia had a decreased life expectancy of around 11 years before the development of factor concentrates, this was before the 1960s. During the modern day, the death rate of males with hemophilia is double that of healthy males. However,

Hemophilia is a rare disorder when blood doesn't clot normally because it is short on sufficient blood-clotting proteins. Deep bleeding inside the body is big concern especially in the knees, ankles and elbows. The internal bleeding caused from this can damage the organs and tissues of the body and may be life threating. When a person without Hemophilia is injured, a system of procedures happens to make the blood turn from liquid to solid to clot the wound and make the blood flow stop. Platelets, which are cells found in the blood, combine together to form a clot at the site of bleeding. The platelets hold an enzyme that causes fibrinogen to change to fibrin which is a solid substance that doesn’t liquefy. The fibrin goes to the area of injury

First signs of hemophilia are seen in young children under age of 2 are biting gums and tongue resulting in bleeding and bruises caused by multiple incidents of falling which is very common in young children. Therefore, the majority of bleeding episodes are caused by surface bruises.

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.

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 and B are x-linked disorders that cause bleeding due to the absence of a coagulation factor, which arise from mutations in the VIII (FVIII) and IX (FIX) factor genes1. Recent advances in the field of gene therapy have unveiled the use of adeno-associated vectors (AAV) and adenovirus vectors (Ad) to increase the levels of expression of the VIII and IX factors, counteracting the effects of the mutation 1. Gene transfer methods of the coagulation factor IX using AAV has resulted in dogs that had either sustained expression of the factor or that were completely cured from it 2. Gene therapy using Ad has a potential to treat Hemophilia B in the neonatal stages, but the possible leaky expression of this can lead to reduced efficiency of the vector 3. These two methods have the potential to treat Hemophilia by gene transfer.

Hemophilia is the name of a group of hereditary blood disorders that doesn’t allow the blood to clot normally (Frey 2009). More specifically hemophilia A, also known as factor VIII, is caused by a missing clotting protein coagulation factor VIII. It is often times referred to as the “Royal Disease” because of how it ran rampant through the royal families of England, Spain , Germany, and other European countries during the 19th and 20th century. Hemophilia A is inherited in X-linked recessive pattern. In males (who have only one X chromosome), one copy of the affected gene is enough to cause the condition. In females (who have two X chromosomes), a mutation on both of the genes would have to be present to cause the disorder. Because it is very unlikely that a female would have both altered copies on both of the genes females generally don’t get hemophilia. Since fathers can only pass on the Y chromosomes to their sons they can’t pass X-linked traits along (Hemophilia 2015). Hemophilia is linked to the mutation of the F8, on the X chromosome, as seen in Figure 1. Mutations in the F8 gene can cause faulty versions of the coagulation protein, therefore this protein cannot participate in the clotting process (Gersten 2014).

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

If the person had a mild case of Hemophilia A, they can be injected with the hormone desmopressin, which gives the body more clotting factors to stop the bleeding. A person with a severe case of Hemophilia A or B may have to be injected with a donation of human blood to prevent the bleeding from continuing. Hemophilia C can be treated with a factor that is only found in Europe, however, plasma infusions are used to stop bleeding in the United States. If treatments fail to proceed in positive effects there are ongoing treatments to provide extra help. Physical therapy, vaccinations, and antifibrinolytics are treatments that can reduce hemophilia symptoms. Maintaining a healthy diet, exercising regularly, and maintaining healthy dental hygiene can help avoid excessive bleeding. If a family member has this disorder it is a good idea to see a counselor and to let people know in case of an emergency. Hemophilia is a blood disorder that doesn't effect the way a human lives if they choose to treat it correctly.

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.

The understanding of hemophilia has drastically improved over the last century. This has led to an improvement in the treatment of the disease. Despite this however, there has been little research in understanding how to prevent the transmission of the disease. The current understanding of the transmission of hemophilia greatly lags in comparison to the research poured into developing methods of gene therapy treatment.