Hemophilia (sometimes spelled haemophilia) is a rare genetic blood disorder which prevents blood from clotting normally. There are two types of hemophilia, and they are hemophilia A and hemophilia B. Hemophilia A is also called classic hemophilia, and is caused by a mutated or missing factor VIII, which is a clotting protein. Hemophilia B is sometimes called Christmas disease, because the disorder was first reported in a patient with the last name Christmas. Hemophilia B is caused by a mutated or missing factor XI, which is also a clotting protein. Although it wasn’t named yet, hemophilia was recognized in the 2nd century AD, in a collection of Jewish Rabbinical writings. A 12th century physician named Albucasis wrote about a family
Meyers, R., W. Adams, K. Dardick, J. Reinisch, F. Reyn, T. Renna, and O. McIntyre. "The Social and Economic Impact of Hemophilia--a Survey of 70 Cases in Vermont and New Hampshire." The Social and Economic Impact of Hemophilia--a Survey of 70 Cases in Vermont and New Hampshire. American Journals of Public Health, 1 Apr. 1972. Web. 30 Aug. 2015. .
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.
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
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
A mutation called an inversion is present which entirely changes the gene up to the point where it can't even make it which then causes the absence of the factor 8 protein. Symptoms include Severe or light bleeding due to the unstable clot which doesn’t do its job properly. Continuous bleeding will occur and can result in major complications of the joints, organs, brain, muscles, and others. In infants, bruising can be in effect all around the body after his/her first birthday, and bleeding(even from a tooth eruption). This is a sex-linked disease which effect about one in every four thousand or five thousand males no matter the ethnic group, but in females, it is even rarer. One of the people who came by this disease was Paul. Paul is from colorado and would always get injections from his own mom who was a nurse when he was an infant. He went to a Hemophilia camp in colorado and would practice injecting his treatment into practice objects so he could do it one day to himself. Paul said that he couldn’t really be apart of everyday life with people and the crowd because he always had to worry about the bleeding and hardships of
A. It 's important to know that hemophilia is not actually a disease or virus. https://my.clevelandclinic.org calls hemophilia "a rare hereditary (inherited) bleeding disorder in which blood cannot clot normally at the site of a wound or injury". This means that it is not contagious, rather it is passed down through genetics. When a hemophiliac gets injured,
First described by Babylonian Jews more than 1700 years ago (NCBI, 2011), hemophilia A has been considered a very interesting genetic disease ever since. In addition, hemophilia A gained widespread attention after Queen Victoria transmitted the disease to several royal families in Europe (NCBI, 2011). As scientists gain more knowledge regarding this genetic disease, more effective treatments have emerged as a result.
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 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).
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.
In 1879, a German doctor by the name if Albert Ludwig Sigesmund Neisser discovered Neisseria gonorrhoeae, which is the pathogenic bacterium that causes gonorrhea. [7] By using the staining technique discovered by Robert Koch, Neisser was able to see the bacteria that came from the samples taken from various men and women who were suffering from gonorrhea at the time.
In the United States, most people with Hemophilia are diagnosed at a very young age. This disease is inherited, meaning it is passed from the parents to the children. By definition, Hemophilia
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