Hemophilia manitoba
Hemophilia manitobaHemophilia Manitoba
Hemophilia Manitoba, or hemophilia, is a sex-linked genetic
disorder that is effecting about 20,000 Americans, most of
which males. A person with hemophilia either has an
inactive or inadequate supply of one of several blood
factors needed for blood to clot. Because of this
hemophilia can be mild, moderate, or severe. Severe
hemophiliacs are at risk for bleeding during surgery,
trauma, or even dental work. There are two types of
hemophilia, A and B (Christmas disease). Hemophilia B is
extremely rare. The majority of the people have hemophilia
A. In hemophilia A, the particular factor missing is 8 for
clotting.
Because hemophilia is sex-linked disorder, it can be passed
on from mother to child. This is because the gene
responsible for making blood factors 8 and 9 are only found
on the X-chromosome. If a female is a carrier that means
that she has one bad gene and one good gene for this
disease. There is a fifty percent chance that she would
pass it on to her child because she can only pass on one of
the two chromosomes. If a male has hemophilia, he will
have normal sons and all of his daughters will be carriers
of the hemophilia disorder because all he can pass on is
the defective X-chromosome.
Males mostly have hemophilia, but women can also have
hemophilia. This is extremely rare though because two
defective X-chromosomes would be needed. In fact, the
first proven case of women having hemophilia was not until
the 1950’s (Bornstein 89). Female carriers are also at
risk. These women are known as asymptomatic carriers and
may suffer excessive menstrual bleeding, bruising,
nosebleeds, and problems during childbirth.
One serious problem with hemophilia is joint bleeds. When
a joint bleeds, a small amount of blood leaks into joint
space and can not escape the joint because it is covered by
a capsule of tissue. If the bleeding is not discovered by
this stage, blood will continue to fill up the joint
space. The joint begins to swell and become
uncomfortable. Eventually, the pressure inside will be
greater than outside and the bleeding stops. Fortunately,
the blood makes digestive enzymes that eats up the trapped
blood. Unfortunately, the digestive enzymes will also
attack the cartilage that covers the bones. After several
bleeds, the cartilage can become worn out and the enzymes
can eat away at the bone.
Hemophilia is either treated each time an internal bleed
occurs or continuously through infusions. An infusion will
stop the bleeding, but only for about a day. Therefore,
most hemophiliacs infuse on a regular basis. Before 1985,
infusions were not screened for viruses. This resulted in
a major outbreak of the HIV virus that infected fifty
percent of hemophilia patients. Also, hepatitis was
transmitted throughout the hemophiliacs. Today, instead of
human factor, recombinant DNA factor 8 is used in order to
prevent viruses.
People without insurance could not afford
hemophilia. An annual bill for hemophilia is usually fifty
to a hundred thousand dollars. Each unit for factor 8 is
$1.50. In one particular case, surgery cost $500,000
because the patient was given 1,000 units every hour.
Gene therapy treatment can also be used against
hemophilia. In-vitro fertilization centers can take an egg
and fertilize it by the male sperm on a petri dish. When
the egg multiplies 8 times or more, they can remove one
cell at a time and analyze its DNA for the genetic
mutation. The healthy eggs would then be put into the
uterus. The process is especially appropriate for
hemophilia B because nearly all mutations causing it can be
detected.
One very famous person to have hemophilia was Queen
Victoria. Victoria married Prince Henry of Battenberg and
they had several children from the marriage. The two sons
both acquired the hemophilia gene from their mother and
died of the ages twenty and thirty-one.
Victoria’s second child, Alice was born in 1843 and married
Louis IV, Grand Duke of Hesse-Darmstadt. There were two
sons of the marriage, of which one died at the age of three
because of hemophilia. There were three daughters of the
marriage: Irene, Victoria, and Alice.
Irene, a carrier, passed the gene onto her children with
Prince Henry of Prussia. Victoria, not being a carrier,
had a grandson who passed a normal blood-clotting gene back
into the royal family of England. Alice, a carrier,
married Nicholas II, Czar of Russia bringing Queen
Victoria’s gene into the Russian family. On August 12,
1904 during the middle of the Russo-Japanese War, Alice had
a baby boy named Alexis with hemophilia. Alexis’s first
sign was when the umbilicus was bleeding when he was six
weeks old. Soon later, bruises appeared when he would bump
into things when crawling. Alice now realized that she had
passed on the gene and never fully forgave herself.
Contrary to popular belief, people in this time with
hemophilia will not necessarily die or come close to death
by minor cuts or injuries, nor do they bleed faster.
However, people with hemophilia do bleed longer. As many
as one-third of all new cases of hemophilia occur in
families with no previous history of this disorder. The
gene causing hemophilia mutates twenty to thirty times per
million gametes produced. The causes for mutations are
still poorly understood, but it is known that some high-
energy chemical and nuclear radiation increases the rate of
mutation.
Bibliography
Bornstein, Jerry and Sandy. What is Genetics? New York:
Julian Messner, 1979.
Cartwright, Frederick F. Disease and History. New York:
Dorset Press, 1991.
Zallen, Doris Teichler. Does It Run in the Family. New
Brunswick: Rutgers University Press, 1997.
Wingerson, Lois. Mapping Our Genes. New York: Penguin
Books, 1990