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Haemophilia is one of the most common and severe bleeding disorder affecting people all over the world. Worldwide, this deficiency is considered quite rare as only about 1 in 10,000 people has haemophilia A and 1 in 50,000 has haemophilia B. (2) However, it can be fatal.
Prevalance of Haemophilia: 20,000 people in the United States
Prevalance Rate: approx 1 in 13,600 or 0.01% or 20,000 people in USA
Incidence (annual) of Haemophilia: about 400 babies annually
Incidence Rate: approx 1 in 680,000 or 0.00% or 400 people in USA (8)
National Heart, Lung and Blood Institute (NHLBI)
The symptoms of haemophilia are bleeding and bruising especially at joints. It may also cause internal bleeding and hemorrhages which can be fatal. As this disorder is due to lower concentration of certain clotting factors, what are the possible treatment that can restore the concentration?
What is Haemophilia?
Haemophilia is an inherited bleeding disorder caused by deficiency in certain blood clotting factors essential for blood clotting. Hence, haemophiliacs often experience continuous blood flow when cut and develop bruises easily.
There are two most common types of haemophilia:
Haemophilia A/ Classic Haemophilia (lack of blood clotting factor VIII)
Haemophilia B/ Christmas Disease (lack of blood clotting factor XI)
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Blood clotting factor IX
Activated clotting factor VIII
Blood Clotting Cascade (19)
"The most severe form of haemophilia affect almost only males, and females can be seriously affected only if the father has haemophilia and the mother is a carrier. This, however, is extremely rare. Nevertheless, many women who are carriers have symptoms of mild haemophilia." (2)
World Federation of Haemophilia
Without blood clotting factor VIII or IX, the blood clotting mechanism is not complete. Prothrombin cannot be converted to thrombin then causes fibrin not to be formed. Eventually, the blood cannot clot.
This shows that haemophilia is more common in males than in females. As both clotting factors show X-linked inheritance, both types are very prevalent especially in males.
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Estimated prevalence of severe deficiency
Gene on chromosome
Factor VII or IX
133 in 106males
Combined V and VIII
6 (subunit A), 1 (subunit B)
Table 1: Prevalence of rare coagulation-factor deficiencies in comparison with haemophilias A and B (4)
The severity of haemophilia can be classified into three, according to the factor activity through several blood tests.
Degrees of severity of haemophilia (9)
As there are different categories of severity of haemophilia, different treatments are administered for different stages.
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Factor Replacement Therapy
Factor replacement therapy is the infusion of concentrates of clotting factor VIII or XI into the veins of patients. As their blood lack specific clotting factors that aid blood clotting, this therapy can help to restore the concentration of clotting factors. There are two sources of the concentrates, one from human and the other from non-human:
human plasma donated
A haemophiliac is injecting himself with the factor concentrates (16)
There are two different types of replacement therapy:
The aim of this therapy is to prevent bleeding where patients are given concentrates one or more times per week. By keeping the level of blood clotting factors high, bleeding can be prevented in the first place. This is usually done in patient with severe haemophilia.
On-demand therapy is the therapy where the concentrates are injected only when bleeding occurs. Thus, the goal is to stop bleeding quickly. This is more common in patient with mild or moderate haemophilia.
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Spectrum of haemophilia treatment regimens and the therapeutic objectives (5)
'Since the main goal is to prevent joint bleeding and its sequelae, prophylaxis should be considered optimal management for persons with severe haemophilia A and B (baseline factor Vlff/IX levels < 1% of normal). Treatment should be started at the age of 1-2 years and be continued indefinitely. Where prophylaxis is not feasible or appropriate, on-demand therapy should be given.' (6)
Joint WHO-WFH meeting in Geneva 1994 (Lusher, 1995)
This shows that both prophylaxis and on-demand therapy can be applied depending on the severity of haemophilia.
Together with the replacement therapy, antifibrinolytic medicines such as tranexamic acid and aminocaproic acid can be given in the pill form to help stop blood clot from breaking down.
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Use of Desmopressin (DDVAP)
Desmopressin is a synthetic hormone used to treat mild and moderate Haemophilia A administed by injection or nasal spray. It is not used in severe Haemophilia A and Haemophilia B because this hormone only increases the concentration of factor VIII in the blood.
As a hormone, it stimulates the production of stored factor VIII and von Willebrand factor. Von Willedbrand factor binds to the factor VIII, causing the factor VIII to stay longer in the bloodstream, thus increasing its concentration.
Desmopressin molecule (20)
Desmopressin Acetate Nasal Aerosol (22)
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Effectiveness of the treatment
After factor replacement therapy, be it on-demand or prophylaxis therapy, the concentrations of blood clotting factors can be raised to the normal level so that blood clotting can take place.
A Comparison of on-demand and prophylaxis (regularly scheduled) therapy in 1997 (24)
This is a European study done on 155 patients in 1997. Patients receiving on-demand therapy have a lower score of general health compared to those receiving prophylaxis therapy in bar chart 1. In bar chart 2, the average number of joint bleeds is also higher for on-demand category, indicating a poorer health. Bar chart 3 shows that on-demand patients receive more clotting factors (IU) than those with prophylaxis therapy.
Until the 1960s, haemophilia patients underwent only emergency surgical treatment and there were high mortality rates of 25%-50%. After the introduction of the use of part I of plasma (fraction I) in 1960, the mortality decreased below 10%, and further below 2%with the use of cryoprecipitate. After the development of a highly active factor VIII and IX concentrates, the mortality rate fell below 1%, and enabled the scheduling of increasingly complex elective cardiovascular and neurosurgical procedures. (21)
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This abstract proves that factor replacement therapy which injects factor VIII and IX concentrates into the bloodstream is effective at reducing the mortality rate among haemophiliacs. This is supported by the following abstract.
Eighty percent of uncontrolled bleeds have been effectively eliminated with a single dose of recombinant factors and subsequent use increases the success rate to 90-95% (Mannucci 2003). Lusher et al. (1993) treated 95 moderate to severe hemophiliac children with rFVIII for an average of 1.5 years with an average of 34.9 infusions per individual. (23)
I think factor replacement therapy is appropriate as it is able to restore the normal blood clotting mechanism, making sure that all that is needed to close up a wound is in the blood. According to Canadian Haemophilia Society, for most haemophiliacs, factor concentrates are very effective in stopping bleeding. Hemophiliacs can even have major operations without bleeding more than a person whose blood is normal. (10)As this is from a trusted site, I believe that the effectiveness of the replacement therapy is confirmed as long as the concentrates is administered on regular basis in prophylaxis therapy.
Benefits and Risks of Replacement Therapy
The benefits of replacement therapy is that it can help to restore the concentration of clotting factors VIII or IX and thus prevent excessive bleeding when there is a cut on the skin. If the concentrates are administered regularly, bleeding can be prevented. Besides, this therapy is easy as no complex procedure is involved. Just reconstitute the powdered form factor with sterile water and it can be used.
There are three complications of the replacement therapy:
Joint and muscle damage due to delayed treatment
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Clotting factors derived from human plasma may carry viruses that can infect the patient. Two forms of hepatitis (B and C) have been recognised since the late 1970s as complications of plasma-derived concentrates made from large plasma pools (up to 20 000 donations). (4) Besides, HIV infection in haemophilia was reported in 1981, and in the UK more than 1200 individuals were infected by blood-product infusions between 1979 and 1985 when viral inactivation steps were introduced. More than half these individuals have died. (4) I think that if screening of donated blood and inactivation of viruses can be done, this problem can be avoided.
Inhibitor development is where antibodies are produced by the body in response to the "foreign" clotting factors injected. Antibodies destroy the factors. Most people who develop inhibitors do so within the first 75 exposures to factor concentrates, with the greatest risk occurring between the first 10-20 treatments. (1) Inhibitors develop in about 20 percent of people who have severe hemophilia A and 1 percent of people who have hemophilia B. (11). Furthermore, delayed treatment can cause bleeding, swelling and damaged joint.
Implications of Haemophilia
In my opinion, young haemophiliacs often have to depend on factor replacement therapy to survive and they develop bruises easily. As a result, they will feel inferior as they think they are different from others. Besides, as they acquire this treatment through injection, there will be a lot of wounds in their hand due to the poking needle. They may feel isolated and embarrassed when people ask about it.
"In developing countries, about 75% do not have adequate treatment and in Malaysia, an estimated of 40% are not diagnosed." (2)
Datuk Dr Faraizah Abdul Karim, president of the Haemophilia Society of Malaysia
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This shows that awareness of haemophilia is less among people due to lack of education. Even in developed countries, adequate treatment such as factor replacement therapy has not been provided and two fifth of the population are not diagnosed. Thus, I hope that through commitments and activities organized by Haemophilia Societies all over the world, people will be more aware of the treatment and severity of the disorder.
Replacement therapy adds on the burden of the family as it is required throughout the whole lifetime of haemophiliacs.
Studies published in California by the Haemophilia Utilisation Group Study utilisation Group have demonstrated that the average cost of haemophilia treatment for a person with severe haemophilia in the USA was US $139,000 per annum, with 94% of this cost being spent on replacement therapy.
WFH survey data show that, in developed countries, the average cost of replacement therapy is 60 US cents per unit, and the average use for a person with severe haemophilia is 80,000 units per year. This gives an average cost per person per year of $48,000. (12)
This shows that the cost of replacement therapy is extremely high and it can be a heavy burden especially to the moderate to low-income family. It is a lifelong expensive treatment, therefore can cause financial problem to the patients' family. I hope that the government will help to provide free treatment to all haemophiliacs, or at least subsidize part of the cost to lessen.
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How gene therapy works?(14)
Gene therapy is the insertion of genes into an individual's cell and biological tissues to treat disease, such as cancer where deleterious mutant alleles are replaced with functional ones. (13) In this case, healthy genes that code for blood clotting factor VIII or IX is inserted into the host DNA through a vector such as virus. By this, transcription and translation of the new gene takes place and the host cell can produce the normal proteins. Concentrations of factors increases and patient can lead their life normally.
According to research done, gene therapy has been used to successfully treat haemophilia in mice and also dogs. Scientists at Stanford University School of Medicine and at the Children's Hospital of Philadelphia carried out a trial on humans. At the beginning of the trial, three patients were injected with a low dose of the gene into the thigh muscles. The results after more than five months are encouraging. (7)All patients show progression, such as from severe to moderate haemophilia.
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It is therefore hope that gene therapy can help to provide a lifelong solution to the bleeding disorder and dismiss the financial burden of all the treatments.
It is a treatment used to treat joint bleeds, reduce swelling and tissue damage. R.I.C.E stands for :
Rest - rest the affected joint or muscle.
Ice - use an icepack, cool cloth or other cooling agents to reduce pain
and swelling. (Do not apply for more than 10-15 minutes at a time.)
Compression - apply pressure to the affected area to slow bleeding.
If using a bandage, do not wrap too tightly.
Elevation - place the affected joint or muscle higher than chest level. (16)
I think this is a non-surgical and simple procedure which can relieve the condition temporarily before treatments are given.
Evaluation of Sources
This website <http://www.nhlbi.nih.gov/health/dci/Diseases/hemophilia/hemophilia _treatments.html> is under the National Heart, Lung and Blood Institute. It is an organization who coordinate with patients, families, medical professionals and many others to promote application of research results and leverage resources to address public health needs. It provides funding on all sorts of research related to the heart, lung and blood with collaborations with international organization. Thus information about haemophilia from this site should be factual and reliable.
Besides, http://www.wrongdiagnosis.com/h/hemophilia/stats.htm provides statistics on haemophilia cases reported by NHLIB. The information from this website is very up-to-date, with last update on 31st August 2010 and the statistics provided should be correct as it is from a renown institute. However, the information provided is not organized and date of the data is not clearly stated.