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
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
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.
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.
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
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
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.
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
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
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
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
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
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
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,
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
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.
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.