Hemophilia Research Papers

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

A parent can pass the abnormal gene for the disease to his or her child. Most circumstances are "autosomal dominant inherited" disorders, which means a person only need an abnormal gene from one parent to be affected. If a person have the genetic factor for von Willebrand disease, an individual have a 50 percent chance of spreading this gene to their children. The harshest form of the ailment (type 3) is "autosomal recessive," which means both parents have to pass an abnormal gene to the young (National Hemophilia Foundation, n.d.).

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

3. What is it about the inheritance pattern of factor viii deficiency seen in Greg and Olga’s pedigree that point toward it not being an autosomal recessive trait?

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

When looking a family genetics, a physician or genetic counselor will look at a person’s family history from three past generations, this helps to find if any relatives carry the disease. Factor levels are the measure of clotting factors in the blood, this test is 70-90% accurate and shows that people carrying the disease have lower levels of factor. Age, health, pregnancy, nursing and some medications can affect the clotting factors in women, which can affect the reliability of the test in finding the disease. The most accurate way to find if a woman carries the disease is to have a DNA test, two tests are available: direct and indirect testing. Direct mutation testing is when a blood sample is when scientists look for mutations within a woman’s DNA, if found chances are she is a carrier of haemophilia. Indirect, or linkage testing is taken when a mutation cannot be found within the DNA, this method is done by looking at a person’s DNA patterns and comparing them to their families. This testing is not as accurate but can give an understanding of where the disease is coming from within a

Factor V Leiden is the most common inherited form of thrombophilia (Stammers, Dorion, Trowbridge, Yen, Klayman, Murdock & Gilbert, 2005). Between 3 and 8 percent of people with European ancestry carry one copy of the factor V Leiden mutation in each cell, and about 1 in 5,000 people have two copies of the mutation (Stammers, Dorion, Trowbridge, Yen, Klayman, Murdock & Gilbert, 2005). People who inherit two copies of the mutation, one from each parent, have a higher risk of developing a clot than people who inherit one copy of the mutation. Considering that about 1 in 1,000 people per year in the general population will develop an abnormal blood clot, the presence of one copy of the factor V Leiden mutation increases that risk to 3 to 8 in 1,000, and having two copies of the mutation may raise the risk to as high as 80 in 1,000 (Stammers, Dorion, Trowbridge, Yen, Klayman, Murdock & Gilbert, 2005). Although, only about 10 percent of individuals with the factor V Leiden mutation ever develop

“Hemophilia (heem-o-FILL-ee-ah) is a rare bleeding disorder in which the blood doesn 't clot normally.” (NIH, 2013) Hemophilia is a chromosome – linked bleeding disorder caused by

Hemophilia A is classified as a hereditary blood disorder (NCBI, 2011), and is caused by a lack of blood clotting protein, known as factor VIII (NCBI, 2011). The specific gene that codes for factor VIII is known as the HEMA gene (NCBI, 2011). Factor VIII is mainly synthesized in the liver (NCBI, 2011). Any lack of factor VIII

Hemophilia is an X chromosome disease meaning that it's the gene on the mother's chromosome that would be responsible for her son's condition.

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.

Mutations in this factor lead to Hemophilia B2. Two vectors—AAV-CMV-F.IX and AAV-EIFα-F.IX—were inserted into the muscle, each having a similar role2. Both vectors were responsible for inducing the activity of the coagulation factor IXa, which is absent in patients exhibiting Hemophilia B, and plays a crucial role in blood clotting2. The results of this study showed that while the two vectors played similar roles, there were important distinctions between the two that determined the AAV-CMV-F.IX vector was more useful for XI factor deficiency2. A potential downfall of using AAV was the issue of tumors being caused in animals due to the vectors2. More studies will have to be completed to address this issue

Hemophilia B is less common than Hemophilia A. Hemophilia B means that the body does not have enough clotting for Factor IX.

There are three types of hemophilia (hemophilia A, hemophilia B, hemophilia C). Hemophilia A is more common and it is caused by a deficiency of factor VIII (Carson-DeWitt, 2014). This deficiency can vary in severity. This is why each case of Hemophilia varies in each case. Most people have severe Hemophilia which means that the factor is functioning at a hundredth of what it should be.

Hemophilia is a problem with the blood in a person that causes them to bleed not any faster than normal, but they often bleed for a longer period. Their blood is missing the clotting factor (a protein in the bloodstream that works to control bleeding). Hemophilia is quite rare; roughly 1 in every 10,000 persons are born with it. Rarely, hemophilia can be an acquired disease which just means a person is not born with it, but will develop it during their lifetime. This rarity occurs when a person's immune system forms antibodies that attack the clotting factor in the blood. The entire antibody population fights against the blood to prevent the clotting factors from working properly.