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Hemophilia is defined by the Merrian Webster dictionary as any of

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Hemophilia is defined by the Merrian Webster dictionary as any of Powered By Docstoc
					       Hemophilia is defined by the Merrian-Webster dictionary as: “any of several X-linked

genetic disorders, symptomatic chiefly in males, in which excessive bleeding occurs owing to the

absence or abnormality of a clotting factor in the blood.” There are three main types of

hemophilia; A, B, and C. Each type is missing or has a deficiency of a clotting factor.

Hemophilia A is the most common type and is defined by a deficiency or absence of factor VIII,

hemophilia B is the second most common type and is defined by a deficiency or absence of

factor IX. With type C one is missing or deficient in factor XI. Hemophilia is only kind of blood

disorder categorized as a clotting disorder that has affected many people in the past and in the

present.


       Both hemophilia A and B are genetic defects that disproportionally affect males. In every

living organism there are genes. Within these genes there is deoxyribonucleic acid (DNA).

DNA is made of four specific proteins, along with other genetic material, that can be rearranged

in an infinite number of ways. The order of this material is crucial, as it tells the body’s cells

what to do and the manner in which to do it. DNA is an important structure that is a part of

another structure called a chromosome. Humans have 46 chromosomes, 23 pairs. Among the 23

pairs of chromosomes, there is a pair that determines the sex of an individual. This pair is

referred to as the sex chromosomes. Sex chromosomes are labeled as X and Y. Women have

two X chromosomes and men have one X chromosome and one Y chromosome. Mothers can

give only X chromosomes to their children, it is the father that contributes either the X

chromosome or the Y chromosome that determines the sex of a baby.


           “The genes that cause the most common forms of hemophilia, by failing to instruct the

body to produce certain clotting factors, are located on the X sex chromosome. This explains

why hemophilia affects boys almost exclusively” (Willett 18). Since women have two X

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chromosomes, hemophilia is less likely to impact their lives. However, women can still be

carriers. This means that one of their X chromosomes has the gene for hemophilia but the other

X chromosome does not. Thus, they have the risk of passing along one of their affected

chromosomes onto their children. Every time a woman who is a carrier gets pregnant, they have

a fifty percent chance of passing the defective gene on to their offspring.


       Imagine that a woman has one X chromosome that is positive for hemophilia, and her

husband has all normal genes. There will be a fifty percent chance that the woman will pass the

defective gene on to their child. If she were to get pregnant and pass the gene and has a girl their

child will be a carrier, so they will not display any symptoms of the disease. If their child is a

boy, he will have hemophilia. This is because as a boy, he only has one X chromosome, since

mom passed along the affected X chromosome, the result is that the child will have the gene for

hemophilia. If the child were to get the unaffected gene, whether or not it’s a boy or a girl, the

child will not have hemophilia.


       “Few babies are diagnosed with hemophilia within the first 6 months of life because

they're unlikely to sustain an injury that would lead to bleeding” (“Kids Health”). Only around

thirty percent of male babies are diagnosed with hemophilia when circumcised. The rest are

diagnosed later in life when a traumatic injury occurs. However, at birth, one to two percent of

hemophilia-positive babies experience bleeding inside the skull known as an intracranial

hemorrhage. If not treated promptly, hemorrhaging will lead to death. Other symptoms in

babies include bruising when the child begins to walk. Some may consider child abuse before

hemophilia due to the severity of the bruising. Paired with the bruising, swollen joints and an

unwillingness to participate in simple activities are also symptoms of undiagnosed hemophilia.



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When a child is diagnosed with hemophilia, it will often be a terrifying experience for both the

parents and the doctors.


       There are many well-known historical figures that were stricken with hemophilia.

“Queen Victoria [born in 1819], who reigned as Queen of the United Kingdom form 1837 to

1901, was in part responsible for bringing the Bolshevik party into power, and contributed to the

demise of the House of Romanov” (Sherman 8). Despite the amount of power she possessed, she

did not do this through politics. In fact, she did this all through genetics. With the thought that

royal bloodlines were meant to stay pure, Queen Victoria married off her daughters and

granddaughters to the crowned heads of Europe. Unknowingly, Queen Victoria passed the gene

for hemophilia to her children, who then carried and passed the gene on to their children. This of

course ended up devastating the houses into which her offspring married. It is unknown which

type of hemophilia Queen Victoria passed on to her children. Also known as “bleeders’ disease”,

hemophilia translates to “love of blood”.


       The discovery that there was something wrong with her family’s blood was noticed in her

eighth child, Prince Leopold, Duke of Albany. It was noted that Prince Leopold was very

delicate and needed to be kept under strict surveillance, for any kind of fall, no matter how

minor, could prove to be fatal. In fact, a minor fall was the cause of the Prince’s death at thirty-

one years of age. Though, Prince Leopold lived to only thirty-one years of age, he lived long

enough to pass the gene on to his daughter, Princess Alice of Albany, who in turn, passed the

gene onto her son Prince Rupert of Teck who died at the age of twenty from bleeding to death

after a car accident. Queen Victoria also passed the gene along to her daughter Alice, who in

turn gave it to her daughter Alix. Alix married Tsar Nikolas II and together they had four

beautiful daughters and one long awaited son named Alexis.

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               Within a few months of his birth, his parents realized that their precious and only

               son, Alexis, had hemophilia. The first sign had been some unexpected bleeding

               from the navel, which had stopped after a few days. Much more serious, however,

               were the dark swellings that appeared each time the child bumped an arm or a leg.

               And worst of all was the bleeding into the joints. This meant a crippling of the

               affected limbs in addition to excruciating pain. As the boy grew older, he was

               obliged to spend weeks in bed, and after he was up, to wear a heavy iron brace.

               (Aranova-Tiuntseva and Herried)


       Though it seems hemophilia is only ever diagnosed among royals, hemophilia can affect

anyone. Among the hemophiliac population, type A is most common, second to type A is type B.

Among the different types of hemophilia, there are different levels of severity. Like any other

measurement, severity is labeled as either mild, moderate, or severe. Being classified as mild

identifies that you have only six to forty-nine percent of the typical amounts of factor in your

system. Someone with mild hemophilia will usually only have significant problems with

bleeding after serious trauma, like falling out a window or surgery. Having a diagnosis of

moderate hemophilia means that one posseses only three to five percent of the needed clotting

factor. In reality, one doesn’t need a great deal of factor to clot. Approximately fifteen percent

of the hemophiliac population has moderate hemophilia. “They may also experience occasional

bleeding episodes without obvious cause. These are called "spontaneous bleeding episodes”

(“National Hemophilia Foundation”). The most common description of hemophilia is severe.

Patients with severe hemophilia make up about sixty percent of the hemophiliac population.


       Having severe hemophilia will greatly impact ones life. One will experience significant

bleeding episodes following minor incidents. The bleeding episodes will often spread to the

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joints. “At first, the bleeding causes tightness in the joint with no real pain or any visible signs

of bleeding. The joint then becomes swollen, hot to touch, and painful to bend” (“What are Signs

and Symptoms of Hemophilia?”). If left untreated, the bleeding can result in temporary loss of

movement in the joint and if completely left untreated, the result can be complete loss of motion.


       Since there are so many different kinds of hemophilia, there are many different

treatments available for patients. Patients with a mild case of hemophilia A are often treated with

an injection of the hormone desmopressin (DDAVP). Once injected into a vein, DDAVP will

help stimulate the production of more of the deficient clotting factor. Someone with moderate

hemophilia A or B will often be treated with injections of clotting factor derived from donated

blood or from genetically engineered recombinant factor. These infusions are repeated until

bleeding stops. For patients with hemophilia C, plasma injections are needed to stop their

bleeding episodes.


       Before the discovery and development of engineered recombinant clotting factors, the

clotting factor used to treat hemophiliacs was derived from the plasma of tens of thousands of

human donors. Despite the effectiveness of the clotting factor from these donors, recipients were

often stricken with disease. The most common of these illnesses was HIV, which is the virus that

causes AIDS. The hemophiliacs contracted HIV from blood transfusions that were from high

risk donors and eventually became a large portion of the international AIDS population. In the

1980’s when there wasn’t a significant amount of knowledge about HIV and AIDS, HIV and

Aids were seen as a homosexual disease. Though there was some evidence that the virus was

passed by blood, initially there wasn't enough information to perform routine screening on all

donors. In fact, it took several years to properly identify the virus and develop test for it.



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               Hit harder by AIDS than perhaps any other group, the nation's 15,000

               hemophiliacs have been racked by anguish, confusion and anger, and forced to

               confront a threat that is taking the lives of many and scarring the emotions of

               many more (“Hemophilia and AIDS: Silent Suffering” A13).


Left and right, hemophiliacs were both dying and being diagnosed with a disease no one wanted

HIV. By the end of the nineties, nearly half of the hemophiliac population had HIV or AIDS.

“Currently, 10% to 15% of persons with hemophilia are infected with HIV” (“HIV/AIDS”). This

drop in infection rate is due to the availability of recombinant factor. Most of the diagnoses were

linked to contaminated blood treatments imported from the United States. It might have been

considered a black market. Companies would accept the blood of high-risk donors and distribute

the blood products they accumulated. This went on for many years and like every other scam,

lawsuits followed. Bayer Corporation was bombarded with fifteen years worth of lawsuits and

payed about $600 million.


       Factor infusions are still commonly used for hemophiliac patients, and blood transfusions

are sometimes used in serious situations. Schools, libraries, and churches hold annual blood

drives to support those with blood disorders.


               According to the most recent data from the National Blood Data Resource Center,

               U.S. hospitals transfused nearly 14 million units of whole blood and red blood

               cells to 4.9 million patients in 2001 - that's an average of 38,000 units of blood

               needed on any given day. Whole blood can be separated into its components red

               blood cells, plasma, platelets, and cryoprecipitate. The total number of units of all

               of these components transfused in 2001 was 29 million. And the volume of blood


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               transfused is increasing at the rate of 6% per year. In emergency conditions such

               as war or disaster, the need for blood may change. (“FAQs about Blood and Blood

               Needs”)


On average, in the United States, every two seconds, someone will receive a blood transfusion.


       Often enough, those with hemophilia live in struggling countries where treatment isn’t

widely available. Organizations like The World Federation of Hemophilia (WFH) dedicate

themselves to providing safe and effective treatments to those who don’t have routine access to

transfusion and clotting factors. WFH has devised a three-year plan that will hopefully educate

the next generation. In fact, the next generation of hemophiliacs and people affected by

hemophilia really is the center of WFH’s plan. It is so important that those affected are well-

enough informed that they are able to make well educated and safe decision regarding their or

their loved ones’ health.


       We now recognize it is time to focus additional programs on the next generation of

       leaders, both within our national organizations as well as at the global level. The WFH

       will be looking to expand upon our youth programs to ensure a future generation is ready

       to assume the mantle of leadership. (World Federation of Hemophilia)


Both medical professionals and those diagnosed heavily encourage the involvement of the

unaffected to help make a difference. This difference can help make the lives of hemophiliacs

more normal.


       Since people with hemophilia are at a higher risk of both internal and external bleeding,

living a normal life seems next to impossible. However, thanks to the development of

engineered recombinant clotting factors, those diagnosed with hemophilia are able to lead a

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fairly normal life. However, hemophiliacs will have their own out of the norm experiences. For

example, when you’re a child and you lose your first tooth. For children without hemophilia, it’s

seen as their first experience with the tooth fairy and the money she leaves under your pillow.

However, for a hemophiliac, losing a tooth can be cause for some major bleeding. Riding a bike

often has a similar result. Children without the disorder fall and hurt themselves without severe

consequences. Usually nothing a band-aid can’t handle. Children with hemophilia might suffer

from road rash that won’t stop bleeding or internal bleeding after a little spill over the

handlebars.


       Treatment that patients with hemophilia can receive varies widely depending on the

particular situation at hand. Replacement therapy isn't always necessary for those with mild

hemophilia. Instead, DDAVP is sometimes given to the patient to boost their body's level of

factor VIII. For those with moderate hemophilia replacement therapy is only needed sometimes

when bleeding occurs or to prevent bleeding when participating in certain activities. Those with

severe hemophilia usually need replacement therapy to reduce and prevent bleeding that can

cause permanent damage. For instances like these, replacement therapy is usually given about

two to three times a week.


       Cases of internal bleeding sometimes have to be fixed with surgery. Since hemophiliacs

lack the proper amount of clotting factor in their blood, surgery is a more risky. To reduce the

risk of excessive bleeding both during and after the procedure, patients are injected with heavy

doses of clotting factor to make up for the factor they don’t naturally produce. Often this is

enough to entitle a safe surgery. The clotting factors that are necessary to prepare a hemophiliac

for surgery are every expensive. Before major surgery, medical professionals want the patients

to be corrected to at least fifty percent clotting factor, and maintained at thirty percent until well

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after the incisions have healed. A typical patient requires four units of clotting factor per

kilogram. For a ten-year-old to be prepared for surgery, it costs an insurance company tens of

thousands of dollars.


       In addition to transfusions and clotting factor, physical therapy also plays a major role in

the treatment of hemophilia. “Physical therapy plays an important part in reducing joint

problems caused by repeated bleeding into muscle and joint areas. Physical therapy is also vital

in helping patients recover properly from joint surgery or other orthopedic procedures”

(“Hemophilia Treatment Glossary”). Physical therapy is a common technique used to treat

multiple joint, ligaments, and muscle injuries. For example, if a soccer player rolls their ankle on

the field and ends up pulling ligaments, physical therapy will almost always be a part of the

treatment plan. The idea behind physical therapy is that if one can isolate and work certain

muscle groups and ligaments, one can increase blood and oxygen flow to increase mobility.

Unfortunately, since hemophiliacs have an increased risk of bleeding into the joints, this can

greatly reduce, if not completely destroy all mobility in their joints. Therefore, the ability to

increase mobility and blood flow through the joints would be incredibly beneficial for anyone,

especially hemophiliacs.


       From the first recorded symptoms to today, science has come leaps and bounds as far as

knowledge and treatment of hemophilia goes.


               Gene therapy is a technique for correcting defective genes responsible for disease

               development… A normal gene may be inserted into a nonspecific location within

               the genome to replace a nonfunctional gene (this approach is most common), an

               abnormal gene could be swapped for a normal gene through homologous


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               recombination, the abnormal gene could be repaired through selective reverse

               mutation, which returns the gene to its normal function, or the regulation (the

               degree to which a gene is turned on or off) of a particular gene could be altered.

               (“Human Genome Project Information”)


Gene therapy is the future of hemophilia treatments.


       “Within a decade or two, it may be possible to screen kids almost before conception for

an enormous range of attributes" (“Designer Babies 1”). This would include the diseases they

will be susceptible to. Since hemophilia is a genetic disease rather than a contagious one, the

decision of whether or not to continue to put children at risk for this disorder is in the hands of

parents. If potential parents are aware that they are carriers for this genetic disease, should they

continue to try to conceive a biological baby of their own? Should they have a designer baby?

This means that they extract eggs from the potential mother, and sperm from the potential father.

From here they pair up the sperm and eggs into multiple ova. Once conceived, in a Petri dish,

scientists can test for genetic anomalies. This would include a test for hemophilia. By deciding

to go ahead with a pregnancy the parents are assured their child won’t be a carrier for

hemophilia; they have eliminated the possibilities of future generations from both having

hemophilia and/or carrying the genes to pass on. Is doing this going against the way of the world

or would it be seen as saving lives? If enough people did this, would we be able to eliminate

hemophilia from the gene pool all-together? These options pose an ethical dilemma, which will

be debated for years to come.


       Genetic diseases can only be prevented by not passing along the defective genes. These

diseases can range from mild to severe, and from merely inconvenient to devastating.


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Hemophilia can be a devastating illness, but as treatments continue to evolve the future looks

even brighter. Treatments range from transfusions today, to possible gene alteration that could

eliminate hemophilia completely from future generations. Hemophilia and its harmful effects

have been well documented throughout history. Even some of the world’s most influential

people have soiled the royal bloodlines with inbreeding and sex-linked disorders. As unfortunate

as it may be, every one of us was at one point susceptible to any variety of genetic disorders.




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