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Blood Disorders: Hemophilia Disease

Blood Disorders: Hemophilia Disease (1)

—— Hemophilia Disease is a kind of genetic blood disorders due to malfunction of blood clotting factors or genetic mutation. As the clotting doesn’t take place properly, it often results into anemia and death. Also known as Royal Disease, this is linked wi

2008-07-31 12:08:01  author:admin  Source:Internet  Hits:0  Font size :【Big】【Medium】【Small
Hemophilia is a recessive genetic disorder linked to the X-Chromosome that is a malfunction of the eighth and ninth blood clotting factors. The blood does not clot properly and therefore any injuries that result in a cut can lead to death. Until very recently there has not been a cure and many people with this disease died before they could have children. It has been called the royal disease because it suddenly showed up as a genetic mutation in Queen Victoria (1819-1901) of Britain, who was a carrier and passed it on to her eighth son Leopold and thus on to her descendants and many other royal families of Europe. Her son was protected for many years, but died because of a fall at the age of thirty-one years old.

What is Hemophilia?
Hemophilia is a rare blood disorder that is linked to the X-Chromosome and in some cases is due to a genetic mutation. The X and Y chromosomes are the genetic material that determines the gender of the child. Women have two X chromosomes and men have a set of XY Chromosomes. Therefore women are only carriers of hemophilia and pass it on to their sons. Thus this "royal disease" is passed from mother to son. Fifty percent of the children of a couple where a woman is a carrier and a man is not afflicted with the disease will either get the disease (sons) or become carriers of the disease (disease). In the case where the man is afflicted with the disease, the girls will be carriers, but his sons will not get the disease. This is because the disease itself is passed from the mother, through her X chromosome.

There are two types of hemophilia, A and B. Hemophilia A (also called factor VIII deficiency and classic hemophilia) is the more common of the two. This is a disease that is caused by a lack of a certain protein that is necessary for production of a major component in the clotting process known as factor VIII. With this disease smaller cuts or bruising are not a problem. Though major problems are caused by traumatic injuries that lead to not faster, nor harder quality of bleeding, but bleeding that will not stop.

Hemophilia B, also known as "Christmas disease" (named after the first person diagnosed with it in 1952) or factor IX deficiency, is caused by a deficiency in a different blood clotting factor and is less prevalent than the factor VIII version. This version appearing in 1 in 25,000 male births as opposed to the factor VIII version that appears in one in 5,000 male births. The genetic appearances of this factor deficiency are the same as that with factor VIII.

Symptoms of Hemophilia
There are degrees of both hemophilia A and B, they are as follows:

Mild hemophilia- (factor levels of 6%-49%) These patients only suffer significant bleeding after major injury or other causes of bleeding such as trauma or surgery. Often this degree of hemophilia will not be found until an injury causes excessive bleeding (sometimes not even until adulthood).

Moderate hemophilia- Around 15% of the people with this disease- these patients have what is known as "spontaneous bleeding episodes", times when they bleed for no known cause.

Severe hemophilia- around 60% of those with it bleeds spontaneously frequently, usually into the joints and muscles, these people also bleed after an injury.

Treatment
In America there are specialized treatment centers (called HTC’s) that have specialists that cover a multitude of concerns that would be able to assist people with this and other blood disorders. Some of these areas are social workers, hematologists (both adult and pediatric), dentists, gynecologists and several others.

For those with mild hemophilia, small cuts and scrapes are treated as usual and additionally a non-blood product is added (DDAVP) for treating minor bleeding incidents. Treating major bleeding incidents or bleeding into the joints and muscles are treated by giving the patient the missing factor (VIII or IX). This is the only way to solve these problems as they arise.

For major bleeding injuries, The Medical and Scientific Advisory Council of the National Hemophilia Foundation has recommended using recombinant blood products, which are blood factors made with products that are produced in a lab as opposed to donated blood products. These products are recommended because they tend to be safer and the chance of getting AIDS is greatly diminished since transfusion of donated blood products has been known to be a cause of AIDS. It is recommended that those (most often children) with severe hemophilia (both A and B) be given regular preventive doses of the missing factors.

In rare circumstances (more with hemophilia A than with B) there is a possibility of adverse reactions (either allergic reactions or resistance to the standard treatment factor). In this case be sure to let your doctor or h
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