Hemophilia Research Paper

Essential Thromboycythemia, also sometimes referred to as idiopathic thrombocythemia, essential thrombocytosis and ET, is a rare blood disorder. Those affected with this disorder produce too many blood platelets. Platelets also known as thrombocytes are colorless blood cells that aide in the stopping of bleeding when an injury has occurred. While the platelet counts in a person with ET are high the red and white blood cell counts of those individuals are generally normal. Occasionally one might have a slightly elevated number of white blood cells too. Often times symptoms of thrombocythemia will become apparent when a blood clot forms somewhere in the body. Increased number of platelets in the blood make the propensity to form a blood clot a huge risk. Symptoms of essential thrombocythemia are largely based on where a clot may have formed in the body. Some symptoms include but are not limited to: fatigue, headache, feelings of being lightheaded, noticeable changes in eyesight clarity, dizziness, chest pain, erythromelagia (redness, throbbing, or burnig in the hands and feet). Some less common symptoms may also include spontaneous

Hemophilia is a rare disorder when blood doesn't clot normally because it is short on sufficient blood-clotting proteins. Deep bleeding inside the body is big concern especially in the knees, ankles and elbows. The internal bleeding caused from this can damage the organs and tissues of the body and may be life threating. When a person without Hemophilia is injured, a system of procedures happens to make the blood turn from liquid to solid to clot the wound and make the blood flow stop. Platelets, which are cells found in the blood, combine together to form a clot at the site of bleeding. The platelets hold an enzyme that causes fibrinogen to change to fibrin which is a solid substance that doesn’t liquefy. The fibrin goes to the area of injury

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 inherited genetic disorder that can affect both males and females, but is seen more frequently in males due to the disorder being x-linked recessive. This disorder effects the human body in a way where a person cannot form blood clots because they lack clotting factors. If someone were to receive a papercut, this event lead to prolonged bleeding. The severity of hemophilia ranges from person to person depending on how abnormal or deficient their coagulation factors are (Tiunstseva et al, 2003). Hemophilia has played an important part in Europe, specifically the royal family. Queen Victoria was a carrier of this genetic disorder. She gave birth to a son who ended up having hemophilia while her other two daughters did not exhibit

Hemophilia is a lot more than just a cut that doesn’t stop bleeding. For starters, the word hemophilia is a combination of the Greek words for “blood” and “love”, which is a way of saying people with hemophilia “love to bleed”or just can’t stop to blood. Why is that? A large part about the disease comes from the effect it has on the cardiovascular system, but more importantly the hemostasis of the body. Normally, when damage occurs to a blood vessel walls, there’s an immediate narrowing of the blood vessel which limits the amount of blood flow. Which leads for some platelets adhere to the damaged vessel wall, and become activated that then recruit additional to form a plug. This platelet plug is the result of the primary hemostasis. Leading up to the coagulation cascade to be activated. In 2010, Chris Pallister and Malcolm Watson best summarized coagulation cascade as:

Males only need one diseased gene from their mother. Females need two. One such example of analyzing for hemophilia is PCR, as described in the article detailing non-fetal diagnosis, which analyzes the alleles in the mother. It compares the amount of wild type alleles to the amount of mutant ones in the mother in order to predict whether or not the fetus has hemophilia.3 While parent child transmission is the main and most common method of transmission, there is another notable method of transmission-organ

Haemophilia is an inherited blood disorder in which the blood does not clot and the bleeding disorders are due to defects in the blood vessels, the coagulation mechanism, or the blood platelets. An individual who is suffering from the disorder may bleed spontaneously and doesn’t clot or may bleed for longer period as compared to normal, healthy person.

Diagnosis: Diagnosis can be ascertained by family history, screening tests and specific determination of clotting factors. If there is a family history of hemophilia, the diagnosis can be done both prenatally and postnatally.

Hemophilia A is a rare genetic disorder which results in blood not clotting normally because it lacks sufficient blood-clotting proteins also called clotting factors. People who have hemophilia A, tend to bleed for a longer time after getting injured because normally, the blood would begin to clot leaving the wound to heal. One of the main concerns for patients with hemophilia A, is the apprehension of internal bleeding. The most common areas to be found with internal bleeding are the knees, ankles, and elbows. Because these areas tend to be the first impact when we fall and get hurt, they would take most of the force leaving them with the majority of the internal bleeding. Internal bleeding is an issue because it can damage organs and tissue

To detect this disease it is most often found naturally at home. Generally discovered when one bleeds longer than any others in their immediate family. If the parents know that their child has

Hemophilia A and B are x-linked disorders that cause bleeding due to the absence of a coagulation factor, which arise from mutations in the VIII (FVIII) and IX (FIX) factor genes1. Recent advances in the field of gene therapy have unveiled the use of adeno-associated vectors (AAV) and adenovirus vectors (Ad) to increase the levels of expression of the VIII and IX factors, counteracting the effects of the mutation 1. Gene transfer methods of the coagulation factor IX using AAV has resulted in dogs that had either sustained expression of the factor or that were completely cured from it 2. Gene therapy using Ad has a potential to treat Hemophilia B in the neonatal stages, but the possible leaky expression of this can lead to reduced efficiency of the vector 3. These two methods have the potential to treat Hemophilia by gene transfer.

The process can be done by infusing prepared factor concentrates and people who have hemophilia eventually learn how to use these infusions on their own in order to stop their bleeding episodes and, by doing the infusions regularly this for the most part can even stop most bleeding episodes from even happening. But it’s going to take good medical care from doctors and nurses who have experience in dealing with people who have the disorder in order to administer preventive solutions. The disorder of hemophilia is a genetic one which means it is inherited, and to this day there is still no cure but treatment to live with this disorder. Hemophilia can and does affect all racial and ethnic groups of people and within those groups it has been found that majority of those with hemophilia are men. Now being that this is inherited let’s look in to the chromosome theory of inheritance, this theory brings forth the idea that the genes are located on chromosomes. This line of thought was based on the experiments of Thomas Hunt Morgan using fruit flies. So, with those findings from the data given it can be deduced that

Hemophilia, also known as haemophilia, is one of the most common genetic disorders in which people’s blood clotting does not occur normally. Instead, excessive bleeding occurs in people diagnosed with hemophilia. According to WebMD, a person diagnosed with hemophilia may have “lots of blood loss from small cuts,” and they can also have joint damage. Also, bleeding can occur randomly, which is known as “spontaneous bleeding.” This sex-linked disease occurs more often in males, and is caused by a deficiency or an absence of a protein produced to manage blood clots, in which in this disease, it it either clotting factors VIII, IX, or the rare XI. Several types of

There is genetic testing available for parents concerned about hemophilia. Hemophilia can sometimes be prevented with genetic counseling, or after a prenatal intrauterine diagnosis, parents can choose to abort

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.