Home > Health essays > Hemophilia

Essay: Hemophilia

Essay details and download:

  • Subject area(s): Health essays
  • Reading time: 6 minutes
  • Price: Free download
  • Published: 12 September 2015*
  • File format: Text
  • Words: 1,703 (approx)
  • Number of pages: 7 (approx)

Text preview of this essay:

This page of the essay has 1,703 words. Download the full version above.

Hemophilia is an inheritable bleeding disorder that almost always affects males and is caused by either non-existent or low levels of clotting proteins called factors. There are 13 different kinds of these factors, called coagulation factor and when they are combined with platelets and fibrin, they create a clot, which stops bleeding. They are labeled I through XIII and it is the lack of VIII, IX, or XI factors that cause the disorder. If even one of these factors are missing or present but at low levels, this can cause blood clotting problems and a proper clot will not be able to form. This genetic disorder is a result of the change or inheritance of genes from the mother or father in the womb. (Hemophilia-Information.com/ Homecare for the Cure)
Hemophilia occurs when a defect in the X chromosome takes place which is one of the sex chromosomes. Hemophilia affects the entire X chromosome and is inherited in an X-linked recessive pattern. Hemophilia A’s VIII is in the F8 gene which is located on xq28. Hemophilia B’s IX is in the F9 gene which is located on xq27.1-27.2. Hemophilia C’s XI gene is located on 4q35. (Genetics Home Reference)
When most people get a cut, it heals naturally and isn’t a big deal, but hemophiliacs are the exact opposite. Their blood lacks the adequate ability to clot because they are missing either the VIII, IX, or XI clotting factor. The first step in the clotting process is for platelets to go to the wound and plug up the hole. Platelets are sticky blood cells that circulate throughout the bloodstream. When these cells plug up a cut, they release chemicals that attract more platelets to the site to stop the bleeding. These chemicals are known as clotting factors. People with hemophilia are either missing or have low levels of clotting factors so the platelets don’t know when to come to the cut site. 5%-40% is mild, 1%-5% is moderate, and less than 1% is severe hemophilia. Because of this lack of clotting factors, the cut won’t heal. (World Federation of Hemophilia)
Hemophiliacs don’t just show visible bleeding, they also bleed internally. They can bleed randomly and not even know it. This is why the symptom of hemophilia is severe bruising. Some signs of a hemophiliac having external bleeding are bleeding in the mouth from a cut, bite or losing a tooth, nosebleeds for no obvious reason, major bleeding from a small cut, and/ or bleeding from a cut that resumes after stopping for a small window of time. However, external bleeding isn’t the only type of bleeding that hemophiliacs go through. They also bleed internally. Some signs of internal bleeding are blood in the urine (from bleeding in the kidneys or bladder), Blood in the stool (from bleeding in the stomach or intestines), and large bruises (from bleeding into the large muscles of the body). Hemophilia A and B are often more severe than hemophilia C due to the fact that people with the latter don’t bleed in the joints. Bleeding in the joints is a common symptom that hemophiliacs have. For hemophiliacs Bleeding in the joints (knee, elbow, etc.) can occur even without an injury taking place prior to it. At first, the bleeding causes tightness in the joints but now real pain is felt. As the bleeding continues however, the joint starts to swell making it hot to the touch and painful to bend. As the swelling continues, movement in the joint can temporarily stop and the pain can increase. If not treated, this can quickly cause damage to the joint. One final type of bleeding that some hemophiliacs go through is bleeding in the brain which is another form of internal bleeding. This kind of bleeding can occur after a single bump on the head or something more serious injury. Some symptoms of this include headaches that last for a long time, neck pain/ stiffness, ongoing vomiting, changes in behavior, sleepiness, sudden weakness or clumsiness in the arms or legs or trouble walking, double vision, and convulsions or seizures. These are only some of the kinds of bleeding involved in hemophilia. (National Heart Lung and Blood Institute)
Hemophilia is a genetic disorder that mainly affects mostly boys and females are less likely to be affected. Even if a girl had the gene for hemophilia on one of the X chromosomes, it still wouldn’t physically show because the other X chromosome would be dominant. A male can’t pass down the hemophilia gene to his sons even though his daughters would all be carriers. Each woman with the carrier gene pregnant with a boy has a 50% chance of their baby having hemophilia. Approximately 1 in 5,000-10,000 people have hemophilia. Hemophilia A is the more common type of the disorder and is a deficiency of factor VIII. 1 in every 4,000-5,000 males are born with it world wide. Hemophilia B is a lot less common than Hemophilia A and is a deficiency of factor IX. 1 in every 20,000 males are born with it world wide. The rarest type of Hemophilia is Hemophilia C and is a deficiency of factor XI in which 1 in every 100,000 males are born with it world wide. (Genetics Home Reference)
People with hemophilia have a problem controlling their clotting factors. This leads to excessive bleeding even for the smallest cut. It is quite an inconvenience for a person with this disorder to get a cut. While a person without this disorder would just get a scab and the cut would be healed, a hemophiliac would just keep bleeding. Because of this, people with hemophilia need to be extremely careful about what activities they participate in. For example, a hemophiliac should play a card game instead of skateboarding because if that person cuts him or herself, he or she wouldn’t be able to stop bleeding. This could be emotionally tough for that person because if his or her friends are skateboarding, he or she can’t go with them because that person could get a cut or a scab and would have to be rushed to the hospital to be administered clotting factors. (Kids Health)
A common treatment for hemophilia is to go to a comprehensive hemophilia treatment center (HTC). These treatment centers are staffed with many hematologists, doctors, and nurses to help care for people with this bleeding disorder. The best way to treat hemophilia is to get the body to clot properly by replacing the missing blood clotting factor. This is done by injecting prepared clotting factor concentrates intravenously. There are two main ways that this is done. The first way is via plasma-derived factor concentrates. Blood is approximately 55% plasma. Plasma is a straw-colored liquid and contains many proteins such as antibodies, albumin, and clotting factors. These clotting proteins are extracted from the plasma, purified, and then freeze-dried. The product is then checked for any viruses and sterilized before being packaged for use. The second way is via recombinant factor concentrates. The plasma method was standard up until 1992 until the FDA approved recombinant factor VIII (8) concentrate, which does not come from plasma. It is genetically engineered using DNA technology. The factors are regularly screened for viruses and sterilized. Recombinant factors VIII and XI (9) are also available that do not contain any plasma or albumin so they can be used without the risk of infection via blood borne viruses. Clotting factors can be given as needed or when an affected person is bleeding. Family members can also give their own clotting factors to their loved ones at home. This leads to less bleeding and fewer side effects. There are also some medications that can be given to release factor VIII such as DDAVP and to stop clots from breaking apart such as Amicar. There is also cryoprecipitation which is freshly thawed plasma. Unfortunately, this method is unsanitary and is only used in developing nations today. (Center for Disease Control)
Hemophilia research is being continually updated to the latest advancements. Over the years more and more effective, safer, and affordable treatments have been developed. There are still some treatments that are being researched and should be released in the future. The mechanisms of bleeding and clotting are being continually researched by the NIH which should help discover new ways to treat hemophilia. 5-20% of people with hemophilia A and 1-4% of people with hemophilia B develop antibodies to the coagulation factors used to prevent bleeding. There are several drugs that can prevent the formation of these antibodies but such treatment could cost upwards of $1 million a year. The NHGRI is trying to reduce the cost of the treatments for hemophilia and is currently developing new treatment methods. They want to expand the study of the induction of immune tolerance on factor VIII-deficient mice to try include evaluation of VII immuno-modulation in humans. They will also continue to study the induction of clotting factor tolerance by using gene therapy using the gut epithelium. They think that this will help them get closer to an efficient cure for hemophilia. Some scientists from NHGRI plan to enter into a CRADA to try to figure how to correct mutations in genomic DNA. This will help fix the mutations in the DNA of a person with hemophilia B. The gene therapy treatment would have to be tested on animals that genetically resemble humans in order for it to be passed on to clinical trials. Safe and effective is in great demand because not only would it help treat hemophilia A and B, it would also treat many other significantly difficult diseases to cure such a s lupus, myasthenia gravis, and various renal diseases. (Department of Health and Human Services)
The expected life-span of a person hemophilia depends on how much medical treatment they get. For example, a person who lives in a developed nation will live longer than a person who lives in a developed country. Without proper treatment, a person will die before they reach adulthood. But with proper treatment, a person will live only 10 years shorter than the average life-expectancy. Due to advances in medicine, children will live a normal, healthy life-span. (World Federation of Hemophilia)

...(download the rest of the essay above)

About this essay:

If you use part of this page in your own work, you need to provide a citation, as follows:

Essay Sauce, Hemophilia. Available from:<https://www.essaysauce.com/health-essays/essay-hemophilia/> [Accessed 15-04-24].

These Health essays have been submitted to us by students in order to help you with your studies.

* This essay may have been previously published on Essay.uk.com at an earlier date.