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 …show more content…
The role of the DNA molecules is to replicate cells for growth and repair. Genetic disorders are inherited by a father or mother, the genes are mutations or a parent’s gene or gene group (MedicneNet.com, 2015). The Better Health Channel by the State Government of Victoria (2015) states that “a genetic disorder is caused by an altered gene or set of …show more content…
When looking a family genetics, a physician or genetic counselor will look at a person’s family history from three past generations, this helps to find if any relatives carry the disease. Factor levels are the measure of clotting factors in the blood, this test is 70-90% accurate and shows that people carrying the disease have lower levels of factor. Age, health, pregnancy, nursing and some medications can affect the clotting factors in women, which can affect the reliability of the test in finding the disease. The most accurate way to find if a woman carries the disease is to have a DNA test, two tests are available: direct and indirect testing. Direct mutation testing is when a blood sample is when scientists look for mutations within a woman’s DNA, if found chances are she is a carrier of haemophilia. Indirect, or linkage testing is taken when a mutation cannot be found within the DNA, this method is done by looking at a person’s DNA patterns and comparing them to their families. This testing is not as accurate but can give an understanding of where the disease is coming from within a
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.
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
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,
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 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.
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
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
Hemophilia is a hereditary and genetic mutation blood disease that does not have the ability to form a blood clot or coagulate from a small injury. The word hemophilia comes from two Greek words: haima - meaning blood and philia meaning to love. In order for the blood to clot properly, the plasma proteins also called factors need to be present in the blood. When the body forms antibodies to the clotting factors in the blood, it will stop the clotting factors from working. There are 13 types of clotting factors and they involve platelets to help the blood coagulate. Platelets also known as thrombocytes are small blood cells that form in your bone marrow to prevent blood loss by initiating a blood clot.
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.
Hemophilia is a rare blood condition in which an individual’s blood cannot clot appropriately to stop bleeding. There are two types of Hemophilia, Hemophilia A and Hemophilia B. This paper will be focusing on Hemophilia A, also known as classic hemophilia. “Hemophilia A is a genetic disorder caused by a missing or defective factor VIII, a clotting protein” (National Hemophilia Foundation, n.d., para. 1). Clotting proteins work with cell fragments called platelets to stop bleeding. “When blood vessels are injured, clotting factors help platelets stick together to plug cuts and breaks on the vessels and stop bleeding (National Heart, Lung, and Blood Institute, 2013, para.
“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 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 A is a disorder in which the blood doesn’t clot normally due to the lack of blood clothing factor VIII. Hemophilia A is also known as the ‘Classic Hemophilia.’ According to the CDC, hemophilia will occur in approximately 1 in 5,000 live births. It is called classic hemophilia due to the fact that this hemophilia is four times more common as hemophilia B. This disorder is mainly a hereditary bleeding disorder which is caused by an inherited X linked recessive trait. Some acquired forms do exist as well, largely in older patients, due to autoantibodies directed against factor VIII. The defected gene is located on the X chromosome. And it results from a heterogeneous mutation in factor VIII gene that maps for Xq28.
Opening Paragraph: Being quite a rare disorder throughout the world, hemophilia is an inherited, genetic bleeding disorder with less than 20,000 being affected in the US. It takes a longer time for bleeding injuries to stop than normal people. Small cuts are not much of a problem, but the ones more severe need medical help.