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

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

Hemophilia A is an X-linked disorder caused by a deficient or defective clotting factor VIII (FVIII) protein, and characterized by spontaneous or traumatic bleeding into joints and muscles [Ragni]. It causes afflicted individuals to not be able to coagulate their blood very efficiently or at all when getting an injury in which blood is exposed either internally or externally. This disease can be very dangerous and fatal because major blood loss can occur if the patient has not received treatment.

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 disorder in which your blood doesn 't clot normally because it lacks sufficient blood-clotting proteins known as clotting factors. Hemophilia is an inherited (genetic) disorder. There 's no cure yet. But with proper treatment, most people with hemophilia can maintain an active, productive lifestyle. Hemophilia was recognized, though not named, in ancient times. The Talmud, a collection of Jewish Rabbinical writings from the 2nd century AD, stated that male babies did not have to be circumcised if two brothers had already died from the procedure.

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

There are two types of Hemophilia, type A and type B, Hemophilia A is associated with blood clots after injury or a type of surgery, Hemophilia A is a disease in which a type of protein that is used to stop clotting is changed or mutated. This all starts after the bleeding has begun, little molecules send out a signal for a protein called factor 12 to be activated, then this protein goes on to activate other proteins till the protein Fibrinogen is activated which stops the bleed and forms a stable clot, but, when Hemophilia is brought in, this can cause major problems. It occurs in the factor 8 gene. Hemophilia causes this gene to be mutated, which is located on the X chromosome. The instructions for making the gene are altered which makes the protein changed as well. In a minor case only a small part of

“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

Although hemophilia A and hemophilia B are caused by mutations of different coagulation factors on the X gene, they share the same symptoms. The reason that is the case is because both proteins play an essential role in the “coagulation” of the blood, so mutations in either of the proteins would result in the same symptoms and essentially, the same disease (DNA, n.d.); (The N-Terminal, n.d.).

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 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).

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.

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,

The second most common type of hemophilia is hemophilia B and is also known as factor IX deficiency, or the Christmas disease. It, like Hemophilia A, is an inherited disorder. It appears much less than Hemophilia A and occurs in “approximately 1 in 25,000 male births, and