Hemophilia A Essay

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 genetic disorder that affects the blood vessels when injured that results in clotting is Hemophilia. This inherited disorder is not contagious and is found through various lab tests such as a blood clotting test. The way someone can be aware if they could encounter Hemophilia is simply by viewing their medical history,

Hemophilia, once called the royal disease is a problem with the clotting of blood. When a cut or bruise occurs it can bleed causing problems with people who suffer from hemophilia. Patients with hemophilia will continually bleed longer than a normal individual. This bleeding can lead to harmful levels of blood loss to internal bleeding. Hemophilia is very rare occurring once every five thousand people. Rare, however it is the most common x linked trait. When an injury occurs, blood cells called platelets plug the wound. Then fibrins seal it up. Hemophilia splits into two groups hemophilia A and hemophilia B. People who have hemophilia A have low levels of blood clotting factor 8. Hemophilia B patients have low levels of blood clotting factor

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

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

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.

Platelets disorders relate directly to how the platelets function where clotting factor deficiencies deal with the proteins in the blood that are used for controlling bleeding. Platelet disorders are identified based on the amount present and how they function. Idiopathic thrombocytopenic purpura is a platelet disorder where a person suffers from a low platelet count which causes them to easily bruise or bleed. This is due the immune system attacking platelets. Clotting factor deficiencies occur due to the body’s’ inability to make enough proteins to aid in clotting blood. These deficiencies are either due to hereditary or from some other medical disorder. Hemophilia is classified as a hereditary disorder because of a deficiency in one of the

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,

Hemophilia is the name of a group of hereditary blood disorders that doesn’t allow the blood to clot normally (Frey 2009). More specifically hemophilia A, also known as factor VIII, is caused by a missing clotting protein coagulation factor VIII. It is often times referred to as the “Royal Disease” because of how it ran rampant through the royal families of England, Spain , Germany, and other European countries during the 19th and 20th century. Hemophilia A is inherited in X-linked recessive pattern. In males (who have only one X chromosome), one copy of the affected gene is enough to cause the condition. In females (who have two X chromosomes), a mutation on both of the genes would have to be present to cause the disorder. Because it is very unlikely that a female would have both altered copies on both of the genes females generally don’t get hemophilia. Since fathers can only pass on the Y chromosomes to their sons they can’t pass X-linked traits along (Hemophilia 2015). Hemophilia is linked to the mutation of the F8, on the X chromosome, as seen in Figure 1. Mutations in the F8 gene can cause faulty versions of the coagulation protein, therefore this protein cannot participate in the clotting process (Gersten 2014).

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.

Hemophilia is an ancient disease, described “as early as in the fifth century AD, and was referred as Babylonian Talmud” (1).” A description of the disorder in the early 1800s by American physician Otto” (2), accurately described the pattern of inheritance. The “disease shows X chromosome linked hereditary transmission. As a result, women are able to carry the disease but do not suffer from it. The only exception is the rare case of a women with haemophiliac father and a carrier mother” (3,4) .