Hemophilia Research Paper

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

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

According to the CDC website, Hemophilia, is a hereditary bleeding disorder which affects mostly males due to X chromosome singularity. Hemophilia is a medical condition in which the blood clotting becomes a challenge for those affected. Symptoms include spontaneous bleeding from injuries or surgery. Blood contains many proteins called clotting factors that assist in blood coagulation, however; those individuals with hemophilia have low levels of either factor VIII or factor IX. The severity of the condition is determined by the amount of factor in the blood thus the lower the amount of the factor, the higher the chances that spontaneous bleeding will occur leading to more severe health complications.

Haemophilia is a genetic disorder that is passed through generations on the x chromosomes, that affects the clotting factor in the blood and makes patients more prone to spontaneous and injury-resulted bleeding which is usually internal. According to the Haemophilia Foundation Australia (2015), there are over 3,000 cases of haemophilia in Australia, and more than half the cases are in males. The National Haemophilia Foundation (2013) website shows that cases of haemophilia go back to the 2n d century, where Jewish boys who have records of uncontrollable bleeding leading to death in their family do not have to undergo circumcision, also cases in 10th century Arabia show deaths of males after uncontrollable bleeding due to trauma. The first

Hemophilia is a rare genetic blood clotting disorder that primarily affects males. People living with hemophilia do not have enough of, or are missing, one of the blood clotting proteins naturally found in blood. Two of the most common forms of hemophilia are A and B. In persons with hemophilia A (also called classic hemophilia), clotting factor VIII is not present in sufficient amounts or is absent. In persons with hemophilia B (also called Christmas disease), clotting factor IX is not present in sufficient amounts or is absent. People with hemophilia do not bleed more profusely or bleed faster than normal; they bleed for a longer period of time.

A large number of mutations for Hemophilia A have been detected and identified. The most common mutation found is the intron twenty-two inversion and intron one inversion of the Factor VIII gene. This mutation occurs in 40-50 percent of people with Hemophilia A. It is caused by the homologous recombination between copies of a DNA sequence. One copy is located on the intron 22 region of factor VIII and the other copies are distal to the factor VIII. Intron one of the factor VIII gene occurs when the factor VIII gene is split which results in the production of two chimeric mRNAs. One of the mRNA has have the exon of the factor VIII and the exons 2-6 on the exon gene of the VBP1 gene, which codes for the subunit of prefolding. The second mRNA has all exons except the last exon of the BRCC3 gene. Other patients that have Hemophilia A acquire the

First signs of hemophilia are seen in young children under age of 2 are biting gums and tongue resulting in bleeding and bruises caused by multiple incidents of falling which is very common in young children. Therefore, the majority of bleeding episodes are caused by surface bruises.

Haemophilia is an inherited blood clotting disorder where the blood doesn’t clot properly because there isn’t enough clotting factor VIII or IX in the blood of someone who is affected by haemophilia (ref). There are two types of haemophilia. The most common form, Haemophilia A, or Classic Haemophilia, affects people who are deficient in factor VIII and Haemophilia B, or Christmas Disease, affects people who are deficient in factor IX. Haemophilia can also be referred to as ‘the royal disease’ because it affected royal families in England, Germany, Russia and Spain in the 19th and 20th centuries. Queen Victoria from the English royal family is believed to have carried the altered gene of haemophilia having a factor XI deficiency. In Australia there are approximately 3000 people affect by haemophilia and majority of them are males, with severe haemophilia extremely rare in females, but some females do have lower factor levels and bleeding symptoms. Abnormal bleedings had first been recorded hundreds of years ago, but wasn’t announced publicly until 1803 when a physician from Philadelphia, John Conrad Otto, published an article about a hemorrhagic bleeding disorder that affect mainly males.

The discovery of hemophilia is something that is not credited to one single person. The discovery happened throughout the course of history with the findings of many doctors and researchers combined. There is evidence that hemophilia was first recognized as a bleeding disorder 1,500 years ago in the Babylonian Talmud. The Talmud is a collection of the findings of great Jewish scholars. While the scholars were able become aware of how this bleeding disorder was inherited and only afflicted the boys, they were not entirely sure of the fact that it was passed from the mother.

Blood is essential to human life. It carries oxygen, nutrients and hormones all through your body with a strong pump from the heart. Steven’s inability to stop bleeding could be detrimental to his health. There are many bleeding disorders existing today but the main, most common ones are limited to hemophilia A, hemophilia B, and von Willebrand disease. Von Willebrand disease is carried on chromosome 12 and occurs equally in men and women, unlike hemophilia which is an x linked disorder typically affecting males more often. There are many other rare forms of hemophilia with deficiencies in clotting factor 1, 2, 5, 7, 10, 11, 12, and 13 but type A and B specifically involve defective genes relating to factor 8 and 9, respectively. Through the

     Hemophilia is the oldest know, lifelong bleeding disorder(“Hemophilia”2004). It is named for two inherited diseases in which the blood does not clot normally. Several different plasma proteins must be present for blood to clot property. If one of the plasma proteins is missing, or present at low levels, blood clots very slowly(“Hemophilia” The Marshall Cavendish). The two most common types of hemophilia are: Hemophilia A or FactorVIII(8) deficiency and Hemophilia B of FactorIX(9) deficiency(“Hemophilia” 2002). People with Hemophilia A have low levels of one kind of blood clotting protein and people with Hemophilia B have low levels of another kind(“Hemophilia” The new book).

In about one-third of the babies born with hemophilia, the disorder is believed to be due to a spontaneous mutation of the gene. There is no family history of hemophilia. To determine a sex linkage inheritance of a defective trait, look at a family pedigree to notice the similarities and patterns of the trait throughout the family pedigree for example the pedigree below:

Hemophilia is an abnormal, rare disorder caused when blood does not properly clot, due to a lack of certain proteins. This disorder is genetic and is inherited from the parents of the offspring. Hemophilia does not change a humans lifestyle if it is treated correctly and the person is healthy and active. When a person bleeds, the body automatically forms a clot to stop the bleeding by sealing the blood cells together. Hemophilia occurs when blood particles do not participate in the clotting factors.

Definition Haemophilia and Genetic basis: Haemophilia is a bleeding disorder where the person’s blood clots ineffectively causing spontaneous or injury induced unnaturally rapid internal and external bleeds. This is a result of a severe lack of various clotting factors, depending on type, in the blood. A clotting factor is a protein in blood that controls bleeding. Haemophilia is described as being of sex-linked inheritance and is passed down through the family genes. There are three types of Haemophilia; Haemophilia A, B and C. Haemophilia A is the most common type and caused when there is a reduction in clotting factor VIII in the blood. Haemophilia B is caused by factor IX. Although they are cause by different clotting factor deficiencies

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.