Hemophilia Case Study

Hemophilia is an X-linked recessive disease in which blood lacks blood-clotting proteins. Females have two X chromosomes, indicating that they are generally carriers and transmit the gene to their sons. People with mild hemophilia bleed after surgery, injury, or trauma. Severe hemophilia produces spontaneous internal bleeding in joints and muscles. Fortunately, medicines and lifestyle changes offers hemophiliacs fairly normal lives. Through learning about hemophilia, I became interested in genetic diseases and finding a cure for those

The genetic disorder of Hemophilia is where the clotting factors of the blood are absent or deficient, causing it to be a dangerous disorder to the people who have it. This disorder is where the people who have it will bleed easily and accessibly. Different types of hemophilia are classified by different deficient clotting factors in the blood. Treatments for hemophilia are available, including transfusions of frozen

Theoretically, people afflicted with hemophilia should not survive long enough to reproduce and pass on their mutated genes. However, there are treatments that allow hemophilia patients to live as long as an unafflicted person can. This adjustment to the population has put up a sort of resistance against the allele leaving the population. As far as keeping the allele in the population, the chance of passing it on is always there whether or not the allele already exists in the population. This is because this allele can arise simply from mutations. It does not necessarily need to be an allele that is already being passed around in the family lineage, although it is more likely to inherit the disorder this way. As far as the level of severity goes, the clotting factor level will be about the same from one generation to the next. For example, a son who inherited the recessive allele from his mother will typically have the same severity level as his mother, if she also has the disease or is a carrier of the disease. Another example is that the daughter of a man who is afflicted with a mild recessive allele will typically carry the allele for mild hemophilia as well. This will usually be the case, unless of course another mutation happens upon the existing mutation causing a difference in severity from the parent in comparison to the child. The level of severity is

Since hemophilia involves excessive bleeding, it is important to treat right away. The main method of treatment is known as “replacement therapy.” Depending on the type of hemophilia one has (A or B), either coagulation factor VIII or IX would be dripped into the vein to replace deficient or mutated factors. These

Currently there is no cure for hemophilia. But with clotting factor infusions and inclusion in support groups, most patients live full and relatively healthy lives. Scientist are always looking for a new cure according to La Kelley Communications (LA Kelley Communications, n.d), and they believe the answer lies in gene therapy. Potential treatment includes taking genes with the correct directions for making clotting factors and inserting them into the cells of a person with hemophilia. Scientists believe the new gene will give the correct directions to the body to start producing high levels of clotting factors, causing the person with hemophilia to develop successful blood

Hemophilia is the oldest known hereditary bleeding disorder. There are two types of hemophilia, A and B (Christmas Disease). Low levels or complete absence of a blood protein essential for clotting causes both. Patients with hemophilia A lack the blood clotting protein, factor VIII, and those with hemophilia B lack factor IX. A person with severe hemophilia has less than 1% of the normal amount of a clotting factor - either Factor VIII (8) or Factor IX (9). People without hemophilia have between 50-150% of the normal level of factor VIII or IX. There are about 20,000 hemophilia patients in the United States. Each year, about 400 babies are born with this disorder. Approximately 85% have hemophilia A and the remainder has hemophilia B.

Hemophilia is disorder which may be genetic or sometimes inherited ,which does not have a definite cure as yet. But if one takes good care of himself and proper treatments, people who are suffering from Hemophilia can surely lead a normal and active life.

There are certain drugs that people who have hemophilia should not take. They are: Aspirin or any Aspirin containing drugs.

Hemophilia like many diseases doesn't have a cure at the moment. There are treatment plans available. A doctor will prescribe transfusions usually. Factor replacement therapy injects the missing factor into the system which immediately provides the missing blood clotting factor the afflicted person is missing. These transfusions can be made from human blood or blood from an animal. When the transfusion is from a human, the proteins extracted for the transfusion are sterilized to prevent any blood related diseases. When the transfusion is taken from an animal, the factor desired to be produced is injected into the animal, so it can then produce large amounts of it. After that, the factor is extracted and it is then stabilized so it can be used in humans. The reason why a doctor must be seen for hemophiliacs to be treated is that, hemophilia varies in severity from case to case. This is because every person produces a different amount of the blood clotting factor. One hemophiliac may produce 15% of what a normal person produces while another hemophiliac may produce only 1% of what a normal person produces (HoG) . The amount and regularity of transfusions depend on severity of

Hemophilia A, an X-linked genetic disease, is the most common coagulation disorder with an incidence of about 1-2 in 10,000 males and is caused by mutations in the factor VIII (FVIII) coagulation gene [PubMed1]. It causes infected individuals to not be able to coagulate their blood efficiently or at all when getting a cut or some injury in which blood is exposed. This disease can be very deadly because of major blood loss.

Hemophilia also known as the royal disease originated in England in the 19th and 20th century, It is a sex-linked disease that is carried in the X chromosome and, therefore; has a much higher frequency in males. This genetic disorder prevents blood from clotting causing the afflicted individual to bleed out. When someone has hemophilia their blood has complications clotting thus clotting factors are either decreased in quantity, absent, or improperly formed. Even one inactive clotting factor can cause an individual affected with the disease to lose great amounts of blood. (J. Wilson, 592)

Hemophilia a blood disease was discovered by people in ancient time. They wrote about the bleeding problem and about blood before they even knew about the clotting process of blood. It was just a little before the world war II that physicians discovered a protein in the blood that cause of hemophilia A. Later Hemophilia had been seen as a royal disease (HOG). This was due to the passing gene of hemophilia in the royal family. The England Queen, Queen victoria who has the gene of hemophilia passed it to her one son Leopold and her two daughters Beatrice and Alice. And Beatrice's daughter who is also the carrier of hemophilia and married to the Spanish royal family and passed it to her son.Alice other daughters of

Hemophilia is a blood disorder that’s usually genetically inherited from parents. People born with hemophilia have little or no clotting factor – a protein needed for normal blood clotting.

There are many tests that help diagnose this disorder in a person. One of those is a screening test. Another test is clotting factor tests. On a normal basis, hemophilia is found in your genes when you are born. This disease can be treated in different ways. In my research, I found that you can replace the clotting factors in your blood. You would need to replace them because hemophilia comes from deficiency in you clotting factors. This disorder can be found

Occasionally a baby is born with this disorder and no family history of it. When this happens, it could be caused by a hidden gene, which is when several generations of female carry it, and it has not affected any male members of the family or a spontaneous mutation. With each pregnancy, a woman who is a carrier has a 25% possibility of having a son born with hemophilia. Since the father's X chromosome is what determines if the unborn child will be a girl, all of the daughters born of a man with hemophilia will be carriers. None of his sons, which is determined by the father through his Y chromosome, will have hemophilia. Individuals who suffer from mild hemophilia may choose to use a non-blood product known as Desmopressin acetate (DDAVP) to help treat the small bleeds and/or scrapes. For deep cuts or internal bleeding, the treatment called DDAVP may not be enough and therefore, may need a much more complex treatment. The clotting factor must be replenished so the affected person can form a clot to stop the bleeding. Plasma is one of the ‘human blood products’ than is used for factor replacement. Another factor replacement option is using the recombinant factor, which is produced in a laboratory.