Hemophilia Bleeding Disorder Essay
Hemophilia is a bleeding disorder. It can make the body not be able to clot blood normally, and have excessive bleeding after an injury. There is not enough clotting factor in their blood. Clotting factor is a protein in blood that controls bleeding. People with hemophilia do not bleed any faster than normal, but can bleed for a loner amount of time. It often affects the head, stomach, joints, knees, elbows, and ankles. Hemophilia Bleeding Disorder Essay. Symptoms may include many large deep bruises, joint pain and swelling, unexplained bleeding, and blood in urine. These symptoms can cause build up of blood (hematoma), blood clotting, and abnormal bleeding. To cause hemophilia there is a defect in one of the genes that determines how the body makes blood clotting factor VIII or IX.
These genes are located on the X chromosomes. If the gene is faulty, the result is hemophilia unless there is a dominant, normal gene on a matching X chromosome. Hemophilia is a sex-linked recessive disorder. If someone is the carrier of hemophilia, but the other person is not, there is a fifty percent chance their child will have hemophilia (more likely in a boy). If two people are carriers of hemophilia, there is a one hundred percent chance of having it. If there is no carrier of hemophilia in a relationship there is still a chance one can get it, even with no family history. When a father has hemophilia but a mother does not, none of the sons will have hemophilia, but, the daughters will carry the hemophilia gene. These kinds of defects occur more often in men than in women.Woman can only have hemophilia if their father has it or of their mother is a carrier. This, is very uncommon. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. There are two main types of Hemophilia. Hemophilia Bleeding Disorder Essay.
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Hemophilia A (due to clotting factor VIII deficiency) is the most common type of Hemophilia. Hemophilia B (due to clotting factor IX deficiency) occurs in one of twenty thousand newborns around the world. Both Hemophilia A and B are clinically almost identical and are inherited in an X-linked recessive genetic pattern. Depending on the severity of the hemophilia, symptoms can be worse or less likely. This can range from normal to severe. Today, treating hemophilia can be very effective. If a clot is treated quick and effectively it will help reduce pain in the joints, muscles, and organs. To treat a clot, the clotting factor that is missing when one has hemophilia is injected into the bloodstream. When enough clotting factor is injected the bleeding will stop. There is no cure yet and they are currently trying to find one.
Without treatment, if one has severe hemophilia it may be hard to go to school or work and they can even become physically disabled. Treatment is given for bleeding into a joint, injury to the neck, mouth, tongue, face, or eye, severe pain, swelling, open wounds, and more. Acetylsalicylic acid (Aspirin) can cause more bleeding as well as other drugs.
Bleeding disorders are a group of disorders that share the inability to form a proper blood clot. They are characterized by extended bleeding after injury, surgery, trauma or menstruation. Sometimes the bleeding is spontaneous, without a known or identifiable cause. Improper clotting can be caused by defects in blood components such as platelets and/or clotting proteins, also called clotting factors. The body produces 13 clotting factors. If any of them are defective or deficient, blood clotting is affected; a mild, moderate or severe bleeding disorder can result.
Some bleeding disorders, such as hemophilia, can be inherited or acquired. Hemophilia Bleeding Disorder Essay. Others can occur from such conditions as anemia, cirrhosis of the liver, HIV, leukemia and vitamin K deficiency. They also can result from certain medications that thin the blood, including aspirin, heparin and warfarin.
Symptoms of a bleeding disorder include:
- Bleeding into joints, muscles and soft tissues
- Excessive bruising
- Prolonged, heavy menstrual periods (menorrhagia)
- Unexplained nosebleeds
- Extended bleeding after minor cuts, blood draws or vaccinations, minor surgery or dental procedures
Treatment for bleeding disorders varies, depending on the condition and its severity. For some bleeding disorders, there are clotting factor concentrates that can be infused prophylactically or on-demand at home, to prevent or treat bleeds. For other bleeding disorders, there are topical products, nasal sprays and fresh frozen plasma, which is administered in a hospital setting.
Proteins called clotting factors work with platelets to stop bleeding at the site of an injury. People with hemophilia produce lower amounts of either Factor VIII or Factor IX than those without the condition. This means the person tends to bleed for a longer time after an injury, and they are more susceptible to internal bleeding.
This bleeding can be fatal if it occurs within a vital organ such as the brain.
There are currently about 20,000 people living with hemophilia in the United States.
In hemophilia, the blood does not clot as it should. Hemophilia is normally an inherited disorder. A person is born with it.
It happens because of a defect in one of the clotting factor genes on the X chromosome.
Hemophilia tends to occur in males, since the gene can be passed from mother to son.
Males typically lack a second X chromosome so they are unable to make up for the defective gene. Most females have XX sex chromosomes while most males have XY sex chromosomes.
Females may be carriers of hemophilia, but they are unlikely to have the disorder. For a girl to have hemophilia, she must have the abnormal gene on both of her X chromosomes, and this is very rare.
Sometimes, hemophilia is acquired because of a spontaneous genetic mutation. Hemophilia Bleeding Disorder Essay.
The disorder can also develop if the body forms antibodies to clotting factors in the blood that then stop the clotting factors from working.
von Willebrand disease
von Willebrand disease (vWD) is another genetic bleeding disorder in which patients are prone to frequent bleeding such as nosebleeds, bleeding gums, and excessive menstrual periods.
It affects around 1 percent of the American population.
Unlike hemophilia, vWD affects men and women equally.Like hemophilia, the severity of vWD depends upon the level of the blood protein. The lower the level of protein in the blood, the more severe is the bleeding.
There are two major types of hemophilia, type A and type B.
In hemophilia A, there is a lack of clotting factor VIII. This accounts for about 80 percent of hemophilia cases. About 70 percent of people with hemophilia A have the severe form.
In hemophilia B, also known as “Christmas disease,” the person lacks clotting factor IX. Hemophilia occurs in around 1 in every 20,000 males born worldwide.
Both A and B can be mild, moderate, or severe, depending on the amount of clotting factor that is in the blood. From 5 to 40 percent of normal clotting factor is considered mild, 1 to 5 percent is moderate, and less than 1 percent is severe. Hemophilia Bleeding Disorder Essay.
Hemophilia symptoms include excessive bleeding and easy bruising. The severity of symptoms depends on how low the level of clotting factors is in the blood.
Bleeding can occur externally or internally.
Any wound, cut, bite, or dental injury can lead to excessive external bleeding.
Spontaneous nosebleeds are common.
There may be prolonged or continued bleeding after bleeding previously ceased.
Signs of excessive internal bleeding include blood in the urine or stools, and large, deep bruises.
Bleeding can also happen within joints, like knees and elbows, causing them to become swollen, hot to the touch, and painful to move.
A person with hemophilia may experience internal bleeding in the brain following a bump on the head.
Symptoms of brain bleeding can include headaches, vomiting, lethargy, behavioral changes, clumsiness, vision problems, paralysis, and seizures.
Medical history and blood tests are key to diagnosing hemophilia.
If a person has bleeding problems, or if hemophilia is suspected, a physician will ask about the person’s family and personal medical history, as this can help to identify the cause.
A physical examination will be carried out.
Blood tests can provide information about how long it takes for blood to clot, the levels of clotting factors, and which clotting factors, if any, are missing.
Blood test results can identify the type of hemophilia and its severity.
For pregnant women who are carriers of hemophilia, doctors are able to test the fetus for the condition after 10 weeks of pregnancy. Hemophilia Bleeding Disorder Essay.