Imagine if you are suffering from excessive bleeding even from the minor cut. To make things worse, the bleeding does not stop even after hours, days or weeks. How can you survive? What will happen if you do not get proper treatment? Or will you lose your life eventually? These are the dilemmas that are surrounding the Hemophilia's patients.
Hemophilia is a heredity genetic disease that impairs the body's ability to control blood clotting or coagulation, which is used to stop bleeding when a blood vessel is broken. The mode of inheritance is X-linked recessive and commonly found in male. Hemophilia is caused by the absence of a blood-clotting protein called factor VIII (1). It is characterized by severe internal bleeding in the head joints, and other areas from even a slight wound. It is untreatable.(23)
Blood clot is an essential component in a human body. Without the clotting factor, wound will bleed continuously and if it is not treated properly, will lead to death. There are two types of Hemophilia, namely Hemophilia A and Hemophilia B. Hemophilia A occurs 1 in 5000 to 10 000 male births while Hemophilia B occurs 1 in 20 000 to 34 000 male births. Hemophilia is not a fatal disease and has a number of solutions to treat this problem. However, what are the prospects of these solutions? What is the rate of success of Hemophilia's treatment? Is the level of the severity of Hemophilia depends on the amount of missing clotting factors?
A possible solution – Replacing the Missing Clotting Factor
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Hemophilia cannot be treated, thus a hemophiliac will remain a hemophiliac throughout his or her life. Hemophilia can be controlled by replacing the missing clotting factor regularly or on-demand. Bleeds should be treated quickly to recover more quickly and prevent later damage. When treatment is late, the bleed takes longer to heal, and more treatment product is needed
Since a Hemophiliac lack of the clotting factor, does this clotting factors must be supplied to the people with Hemophilia by injecting it into a vein. These clotting factors can be found in various treatment products, such as cryoprecipitate and factor concentrate by injection into a vein, injection under the skin, or nasal spray(4)
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Methods to replace the missing clotting factors in Hemophiliacs http://www.wfh.org/en/index.html
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How is the clotting factor extracted from the blood serum?(4)
Apart from that, Desmopressin (DDAVP)(5) can also be used to treat hemophilia. However, Desmopressin does not contain the clotting factor, instead it works by raising the patient's own factor VIII level in the bloodstream(5). Desmopressin can be given in three ways ; intravenously (IV), subcutaneously (under the skin), and intranasally (as a nasal spray).
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Plasma in the human blood
Therefore, we see how biology improves the quality of life for the hemophiliacs. This explains the use of biology to improve the prospects of life of human beings. Biology is not only about the knowledge that explains the natural process of human lives but more to its involvement in medical aspect to improve the quality of our lives.
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The use of extracted clotting factor for the surgery and tooth removal of the Hemophiliacs
how successful are they?
The prospect of replacing the missing clotting factor is very promising. Hemophiliacs will able to have normal life once they receive proper treatment. There are two categories of treatment namely prophylaxis and on-demand(1). Prophylaxis is a treatment that continuously supplies the clotting factor to the hemophiliacs to keep the level of clotting factor in body relatively high. For on-demand, as it name suggests is a treatment that cures bleeding episodes once they arrived.
Always on Time
Marked to Standard
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A person with hemophilia will recover from a bleed within a few days if treated with factor concentrate. If untreated, recovery may take weeks and may be incomplete. Joints may be permanently damage. Other treatment products are less expensive but not as effective, and contribute to longer absences from work or school, and decreased ability to contribute to the family and community ( Evatt, BL and L Robillard, 2000 )(21)
Based on the graph above, the survival of the Hemophiliacs increase as the Factor VIII concentration increase. The rapid incline on the left of the graph indicates that even small amount of the factor concentrate, can significantly increase the survival of people with hemophilia
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Ethical, Economical and Social Issues
About 70% of Hemophilia patients live in developing countries. It is a fatal disease due to the continuous bleeding even from a small wound. However, it can be controlled through comprehensive treatment.
It is imperative for the hemophiliacs to be put under strict surveillance. They might not be able to involve in extreme activities such as travelling. Thus, hemophilia patients especially the children are unable to live their life to the fullest. The family will also be affected indirectly, as they need to take the children to the treatment centre regularly. The impact also could be seen in economic aspect to pay for the treatment.
When the children have grown up, they will have difficult time to find a job. Apart from that, they need insurance to cover their life. Employer might not take the hemophiliacs as the worker. Thus, hemophiliacs will end up as jobless. This will trouble them since they need money to pay for the treatment.
If the hemophiliacs are contaminated with HIV or Hepatitis during the treatment of blood transfusion, it will significantly tarnish their life. This situation might incur prejudice from the society and in the end they may become exiled from the society.Even though the prospect for the solutions that treat Hemophilia are very promising, they still have some limitations and barrier. This limitations can be seen in term if economy and social;
(i)economy : developing countries are unable to provide the hemophilia treatment centre
The life of people with Hemophilia will also be affected. About 70% of Hemophiliacs live in the developing countries (22). Thus, these developing countries are unable to provide comprehensive treatments to the hemophiliacs; neither prophylaxis or on-demand treatment. Many of the hemophiliacs in the developing countries are unable to survive the childhood. This explains why the rate of mortality due to hemophilia in the developing countries is relatively high. (22)
“ Our challenge is to ensure that all the patients with bleeding disorder regardless where they live in this world have access to proper treatment” (Mark Skinner, President of World Federation of Hemophilia)
Developing countries have low Gross National Products (GNP) and thus unable to provide comprehensive treatments to the hemophiliacs. In contrast, countries that have relatively high GNP are able to provide the comprehensive treatments for Hemophilia thus resulting in the survival to adulthood increased fivefold (500%) for children with hemophilia (22).
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On the other hand, those who receive the adequate treatment will have more rapid and complete recovery from bleeding episodes occur when factor replacement therapy was provided, resulting in quicker return to work, school, and preservation of functional independence for the person with hemophilia.
(ii) social : donated blood might get contaminate
There is no permanent cure for Hemophilia. Thus the hemophiliacs depend on the donated clotting factor to stay alive. However, the donated clotting factor might become contaminated and thus without proper screening will cause HIV or Hepatitis B to the Hemophiliacs who receive the clotting factor. Increased probability of contracting HIV and Hepatitis C through unsafe blood-based replacement therapy, resulting in increased hospitalization and medication, and further loss of productivity(20)
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If a person with hemophilia contracts HIV/AIDS or hepatitis through unsafe treatment products, there is a risk that the infection will be communicated, increasing the number of citizens eventually requiring treatment and financial support.
Reduced quality life of Hemophilia, HIV and Hepatitis patients may as well reduce the productivity of a country. For example, by 2005, Botswana will have lost 17% of its workforce to AIDS, and by 2015, its economy will grow 2.5% less than it would have without the impact of AIDS ( Evatt, BL and L Robillard, 2000 ) (23)
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(i) Future development of gene therapy
Future development of gene therapy will provide bright prospect to the hemophilia patients. With gene therapy, hemophilia can be permanently cured and thus reduce the chance that the parents will pass the hemophilia gene to their offspring. However it is still a long way to go before this type of gene therapy can be used to the hemophiliacs.
Gene therapy is a method to correct a person's genetic defect by placing non-defective, normal functioning genes into his cells. Normal factor VIII or factor IX genes would be inserted into enough cells to enable a person to continuously make enough factors to cure his hemophilia
In short, through gene therapy, the hemophiliacs will be permanently cured because their own body produces the clotting factor and thus they will no longer depend on external clotting factors.
The use of Gene Therapy to permanently treat Hemophilia
In my opinion, these promising developments in science may have limited impact until economic, social, and ethical issues surrounding Hemophilia have been addressed
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In conclusion, even though scientists are researching the treatment that permanently cure hemophilia, but present treatment can significantly reduce the rate of mortality in people with hemophilia. It is not a fatal disease if comprehensive treatments are carried out to the Hemophiliacs and thus they will lead a normal life as we all do.
Evaluation of sources
From my observation, Hemophilia is not a fatal disease as long as methods of prevention and curing are applied to the Hemophilia. Hemophilia is a hereditary disease and thus, can be prevented through screening of the unborn baby. I have collected a range of information regarding Hemophilia in this world hemophilia federation website, http://www.wfh.org/index.asp?lang=EN . This website discuss about the methods to cure continuous bleeding of hemophilia by replacing the missing clotting factor either in-demand, in which the missing clotting factor is injected or transferred into the hemophiliacs once the bleeding episode occurs or also prophylaxis, in which the missing clotting factor is injected regularly into the hemophiliacs to keep the level of the clotting factor relatively high.
This website may be limited as a resource as it generally only shows information on the work that WFH has done not any other organizations or groups.I also found another website that is, National Hemophilia Foundation and I realized that information that I sought from both websites are almost the same. Therefore, I deem that both websites are reliable and valid.
(2) Biology Book 8th Edition
I also refer to books and newspaper for further information about Hemophilia. Hemophilia is an untreatable hereditary disease. But, research of gene therapy that permanently cures Hemophilia is underway. Based on the information from newspaper that is Utusan Malaysia ( Malay version ) and Biology Book ( author – Solomon ) I found that these two sources do not mention about research that permanently cure hemophilia. However, based on the information I obtained from the World Federation of Hemophilia website, it mentions about the positive prospect of gene therapy and how it can save the lives of the hemophiliacs. Apart from that, information that I obtained from these newspapers and books are limited and not updated. Thus, I refer to the Hemophilia websites for my main source.
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(1)Wikipedia ( 2009 ) http://en.wikipedia.org/wiki/Haemophilia ( 15 June 2009, 8.30 pm )
(2) http://upload.wikimedia.org/wikipedia/commons/a/a3/XlinkRecessive.jpg ( 16 June 2009 )
(3) World Federation of Hemophilia's website (2009 ) http://www.wfh.org/en/index.html ( 16 June 2009 )
(4) World Federation of Hemophilia's website (2009 ) http://www.wfh.org/en/3.04.1.html ( 16 June 2009 )
(5) World Federation of Hemophilia's website (2009 ) http://www.wfh.org/en/3.04.3.html ( 16 June 2009 )
(6) http://www.goalfinder.com/images/HSCBLO1/Blood-plasma.jpg (17 June 2009 )
(7)http://www.vghks.gov.tw/ph/%B3B%A4%E8%B6%B0/drug/desmopressin.files/image004.jpg (16 June 2009 )
(8) http://www.wfh.org/en/index.html ( 16 June 2009 )
(9) http://www.wfh.org/en/3.04.1.html (16 June 2009 )
(10) http://users.rcn.com/jkimball.ma.ultranet/BiologyPages/C/Clotting.html (17 june 2009 )
(11) http://tasithoughts.files.wordpress.com/2009/03/01_16_5-sheep_web.jpg (21 June 2009 )
(12) http://www.wfh.org/2/docs/Publications/Hemo_Org_Resources/Fact_sheet_2_Apr04.pdf (21 June 2009 )
(13) http://www.wfh.org/2/docs/Publications/Hemo_Org_Resources/Fact_sheet_1_Apr04.pdf ( 21 June 2009 )
(14) http://www.wfh.org/2/docs/Publications/Hemo ( 21 June 2009 )
(15) http://www.goway.com/africa/afr_img/maps/botswana_intro_map.jpg ( 21 June 2009 )
(17) http://medicineworld.org/images/blogs/9-2006/genes-58178210.jpg ( 21 June 2009 )
(18) http://www.wfh.org/en/index.html ( 21 June 2009 )
(19) http://en.wikipedia.org/wiki/Haemophilia (21 June 2009 )
(20)Economic Benefits of Basic Hemophilia Treatment and Care ( derived from http://www.wfh.org/2/docs/Publications/Hemo_Org_Resources/Fact_sheet_1_Apr04.pdf )
Evatt, BL, and L Robillard. 2000. Establishing haemophilia care in developing countries: using data to overcome the barrier of pessimism. Haemophilia 6: 131-134.
(21) Benefits of treating hemophilia with factor concentrate (derived from http://www.wfh.org/2/docs/Publications/Hemo_Org_Resources/Fact_sheet_2_Apr04.pdf )
World federation of hemophilia. Evatt, BL, and L Robillard. 2000. Establishing haemophilia care in developing countries: using data to overcome the barrier of
pessimism. Haemophilia 6: 131-134.
(22) Economic benefits of comprehensive hemophilia care (derived from http://www.wfh.org/2/docs/Publications/Hemo_Org_Resources/Fact_sheet-3_Eng.pdf )
(23 ) Utusan Malaysia ( Malay version ) ; 13 April 2009. Author ; Nik Nur Dayana, page 2 and 3
(24) Edexcel Biology for AS. Author – C J Clegg. Published at 2008. Page 16-17
(25) Biology 8th Edition. Authors – Eldra P. Solomon, Linda R. Berg and Diana W. Martin.Publisher – Peter adams. Published on 2008. Page 252, 338, 925, 339, 359, 363
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