What Is It?
Haemophilia is a disease that affects the blood’s ability to clot. Usually, when one cuts themselves, proteins called clotting factors combine with blood cells called platelets which makes the blood sticky. The result of this is that when one is bleeding, it makes the bleeding stop eventually. When a person is diagnosed with Haemophilia, there are not as many clotting factors in the blood as there should normally be. Therefore, someone with this disease will bleed for longer time. One of the symptoms of this disease is external bleeding, but the most common symptom is internal bleeding around the joints and muscles. Internal bleeding causes pain and stiffness of the joints and gradually it damages them. Other symptoms include nosebleeds that won’t stop, lots of bruises and even blood in urine.
Serious cases of Haemophilia can cause bleeding into the joints, muscles, brain and other internal organs.
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Internal bleeding
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External bleeding

The two types of Haemophilia are Haemophilia A and Haemophilia B. Both types have the same symptoms but they are caused by problems with different clotting factors and have slightly different treatments. A very rare type of this disease is called Acquired Haemophilia. This one is not inherited from relatives; it is caused by the immune system attacking the clotting factors in the blood.
There is not cure for Haemophilia but there is excellent treatment for the condition. During the 1990s genetically engineered clotting factors were invented to prevent and treat prolonged bleeding. These clotting factors are transferred to one’s body through injections.
Haemophilia A is the most common type. Approximately 1 boy in every 5,000 will be born with it. Haemophilia B is much less common. Approximately 1 boy in every 30,000 will be born with it (5).
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How Does It Occur?

Haemophilia is inherited from family members and almost always occurs in males.
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There are three types of Haemophilia:
Haemophilia A occurs when there are changes in the F8 gene. This gene is responsible for providing instructions to make a protein called coagulation factor VIII. These coagulation factors are proteins that work together in the blood clotting process. Mutations in the F8 gene result in the production of an abnormal version of coagulation factor VIII or even reduce the amount of this protein. The altered or missing protein cannot participate properly in the blood clotting process resulting in incomplete blood clots during an injury. Thus, it leads to excessive bleeding that can be difficult to control. The mutations that cause severe Haemophilia almost completely eliminate the activity of coagulation factor VIII.


Haemophilia B occurs when there are mutations in the F9 gene. A protein related to coagulation factor VIII (Haemophilia A) called coagulation factor IX is produced from the F9 gene. The mutation is very similar to the one that causes Haemophilia A, just that the gene that is altered is a different one. Mutations in the F9 gene cause an abnormal version of the coagulation factor IX or even reduce the amount of it. Again, the result is the same as in the F8 gene; the protein cannot participate in the blood clotting process which leads to incomplete blood clots during an injury.


Acquired Haemophilia is the rare case of this disease and it is not caused by inherited gene mutations. It happens when the body makes autoantibodies, specialized proteins that attack and disable coagulation factor VIII, which causes incomplete blood clots in an injury.

Benefits:

The best way to prevent bleeds is to exercise. This is beneficial because the method of prevention is very cheap. It is not a treatment like chemotherapy which is very expensive and extensive. You can prevent bleeds and become a healthy hemophiliac by exercising and playing sports.By getting fit and keeping your joints strong and your muscles flexible, you can lessen the risk of bleeds and reduce the need for clotting factor replacement.

If you have healthier and stronger muscles, they will be better able to withstand stress and strain, which reduces the risk of bleeds.

By exercising and improving your flexibility, you improve and maintain the full range of movement in your joints, which means they are less likely to be forced to their limit, which can cause bleeds.

Maintaining a healthy body weight can keep you from becoming overweight. Being overweight can place extra stress and strain on joints and muscles.


Another great benefit for Haemophilia is the gene therapy. The goal of this is to replace a defective gene sequence with a corrected version to eliminate the disease for the patient. 80% of cases of Haemophilia are Haemophilia A cases. Although gene therapy for Haemophilia A is not ready yet, gene therapy for Haemophilia B is now available. Researchers have focused on Haemophilia B because the Factor IX gene is much smaller and easier to work with.

The research team reported that they treat the patients by infusing the delivery virus into their veins (injection). The virus tends to live on the cells of the liver and the gene it carries then reproduces correct copies of the Factor IX gene (7).
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Virus entering human cell
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Studies of Haemophilia A gene therapy

Limitations:

As mentioned before, it is crucial for Haemophiliacs to exercise, to make their muscles and joints stronger, preventing bleeds. People diagnosed with Haemophilia cannot play team sports such as soccer, basketball, volleyball or baseball and all contact sports such as football, hockey, lacrosse and boxing because there is a high risk of injury. In these sports it is easy to bump into people and get injured, and Haemophiliacs are sensitive to injuries, so what would be a mild injury to someone, it could lead to internal bleeding to a person with Haemophilia. It is ironic because doctors say that it is most important for Haemophiliacs to exercise but they cannot play team sports or all contact sports.

Another limitation to this disease is that even though gene therapy is available for Haemophilia B, only 20% of the cases of the disease are Haemophilia B. The other 80% of the cases are Haemophilia A, which does not have a gene therapy yet. Apart from that, the big issue is that most of the Haemophilia B patients will not be able to afford the gene therapy. Treating a patient with the injections of Factor IX concentrate costs $300,000 a year, with a possible lifetime cost of $20,000,000. However, the single required injection of the virus costs $30,000 (not the entire treatment) which is still a lot of money and not everyone can afford.

Social Factor:

Haemophilia relates to the social factor because of the summer camps. These camps’ goals are to provide a fun experience to children with bleeding disorders. They get to unite as a group and try new outdoor activities, hanging out with other kids and making friends with people who have similar conditions and learn how to take care of themselves in case of a bleed (1). Some camps just let the kids have a fun camp experience, without even mentioning the children’s conditions so they can feel like normal kids. Other camps focus on teaching them how to take care of their bodies and what to do in case of a bleed. The Haemophiliac society is gradually growing because of these camps, treating patients and teaching children to take care of themselves and accepting their condition. Some children diagnosed with Haemophilia might have low self esteem because they cannot participate in everyday sport activities like other children, and these camps help them feel like a member of a society.
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Economic Factor:

Haemophilia relates to the economic factor because parents whose children are diagnosed with Haemophilia may be entitled to claim Disability Living Allowance, which is a tax-free benefit for disabled children to help with extra costs that one may have because of the disease. This comes in two parts: the care component (high, middle and low rates) and the mobility component (high and low rates). The care component is given when one needs help looking after themselves or supervision to keep safe and the mobility component is given when one cannot walk or needs help to move around. The Disability Living Allowance helps families that need financial aid. It gives them a weekly fee to take care of their family members diagnosed with Haemophilia. Some people might get both components; some might get only one, depending on their circumstances.

Bibliography:

1. Aldridge, Sarah. "Hemophilia Summer Camps." Hemaware.org. 22 Mar. 2010. Web. 10 Mar. 2012. <http://www.hemaware.org/story/hemophilia-summer-camps>.
2. "Disability Living Allowance." DirectGov. Web. 10 Mar. 2012. <http://www.direct.gov.uk/en/MoneyTaxAndBenefits/BenefitsTaxCreditsAndOtherSupport/Disabledpeople/DG_10018702>.
3. "Hemophilia." Genetics Home Reference. 5 Mar. 2012. Web. 10 Mar. 2012. <http://ghr.nlm.nih.gov/condition/hemophilia>.
4. Hemophilia Now. "Benefits of Exercise." Hemophilia Now. Web. 10 Mar. 2012. <http://www.hemophilianow.org/scripts/pages/en/fitness/benefits_of_exercise/index.php>.
5. NHS. "Haemophilia." Haemophilia. Web. 10 Mar. 2012. <http://www.nhs.uk/conditions/Haemophilia/Pages/Introduction.aspx>.
6. Nielsen, Suzanne, and Steven Dowshen. "Teens Health." Hemophilia. Jan. 2011. Web. 10 Mar. 2012. <http://kidshealth.org/teen/diseases_conditions/blood/hemophilia.html>.
7. Wade, Nicholas. "Treatment for Blood Disease Is Gene Therapy Landmark." The New York Times. 10 Dec. 2010. Web. 10 Mar. 2012. <http://www.nytimes.com/2011/12/11/health/research/hemophilia-b-gene-therapy-breakthrough.html>.