Genetics and Genomics: Assignment 3
Tasha Blue
Jacksonville State University
NU 352: Health Assessment Across the Lifespan
September 2016
Learning about von Williebrand Disease According to the National Hemophilia Foundation (n.d.), von Willebrand disease (VWD) is a genetic disorder caused by missing or defective von Willebrand factor (VWF), a clotting protein. VWF binds factor VIII, a key clotting protein, and platelets in blood vessel walls, which help form a platelet plug during the clotting process. The condition is named after Finnish physician Erik von Willebrand, who first described it in the 1920s (National Hemophilia Foundation, n.d.). The seriousness of the bleeding varied between family
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When von Willebrand factor is insufficient or not operational appropriately because of structural defects, small blood cells called platelets cannot stick together properly, nor can they attach themselves normally to the blood vessel walls when an injury has occurred. The result is interfering with the clotting course, and uncontrolled bleeding may continue. VWD is the most common bleeding disorder, affecting up to 1% of the United States population. It is carried on chromosome 12 and occurs equally in men and women (National Heart, Lung, and Blood Institute, …show more content…
A parent can pass the abnormal gene for the disease to his or her child. Most circumstances are "autosomal dominant inherited" disorders, which means a person only need an abnormal gene from one parent to be affected. If a person have the genetic factor for von Willebrand disease, an individual have a 50 percent chance of spreading this gene to their children. The harshest form of the ailment (type 3) is "autosomal recessive," which means both parents have to pass an abnormal gene to the young (National Hemophilia Foundation, n.d.). Signs and Symptoms According to the National Hemophilia Foundation (.n d.), people with VWD experience recurrent nosebleeds, easy bruising and extreme bleeding for the duration of and after invasive procedures, such as tooth removals and surgery. Women often experience menorrhagia, heavy menstrual periods that last lengthier than usual, and hemorrhaging after giving birth. The signs and symptoms depends on the severity of the disease. There are three main types of VWD. Type 1, type 2, type 3, and acquired. According to the National Hemophilia Foundation (.n d.), type 1 VWD is found in 60%-80% of patients. People with type 1 VWD have low levels of von Willebrand factor and may have low levels of factor VIII. Levels of VWF in the blood range from 20%-50% of normal. The symptoms are usually mild (National
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
As the best of my knowledge I believe the two year old child is suffering from an inherited disorder called hemophilia. The Mayo Clinic describes hemophilia as a rare blood disorder that lacks sufficient blood clotting proteins. (Staff, B.M. ((n.d.)). Hemophilia. Retrieved September 27, 2016, from http://www.mayoclinic.org/disease-conditions/hemophilia/basics/treatment/con-20029824
Imagine having a sibling you have to be extra careful with on day to day basis. Imagine the terror you feel when a loved one begins to bleed uncontrollably and you do not know what to do. Imagine the confusion and frustration you feel when you are helpless to your sibling. Having a sibling with von Willebrand disorder changes how families go about their daily routines. Von Willebrand disorder affects 1 in every 100 people, making it the most common bleeding disorder. About 75% of all people with von Willebrand have type 1, including my sister. Von Willebrand disorder causes excessive bleeding, easy bruising, and pure panic for a family. Blood transfusions are used on people
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.
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
Mutations lead to a genetic deficiency in clotting factor VIII, causing increased bleeding and affects males a majority of the time. HA can occur in homozygous females. 5-10% of patients with HA have dysfunctional proteins (factor VII) and 90% to 95% of HA cases are characterized by a quantitative deficiency pf factor VII. Patients usually experience bleeding episodes: the most serious bleeding sites include, joints, muscles, digestive tract, and brain. 30% of cases are caused by new mutations. Medications are prescribed to prevent bleeding episodes and for more severe cases blood coagulate and blood plasma treatments are
Factor V Leiden thrombophilia is a genetic disorder that effects blood clotting. Factor V Leiden is the name of a specific gene mutation that results in thrombophilia,
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
You mentioned hemophilia so I just wanted to explain what it was. Hemophilia is an inherited disease that affects the clotting process of your blood. Therefore, if you have hemophilia you do stand a chance of sever bleeding if you incur an injury or cut. There is a protein that is called clotting factor that a person might have little or none at all. It is a protein used for blood clotting that helps blood platelets stick together. (NIH
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 is an inherited bleeding disorder that is passed from mother to son. This affliction is passed in such a way due to the fact that the gene that is responsible for hemophilia is carried on the X chromosome that the child receives from his mother. For someone to be afflicted by hemophilia means that their blood has a difficult time clotting. There people do not bleed any faster than the average person, they simply cannot stop bleeding once they start bleeding. As of this current moment, there are no known cures for hemophilia, but there are many treatments that are highly effective in helping to treat many of the issues associated with the bleeding disorder. (citation)
Hemophilia is a genetic disorder that slows the process of blood clotting. The majority of sufferers bleed extensively after injury or medical operation. In serious cases, there is spontaneous bleeding in the joints. “Milder forms of hemophilia do not necessarily involve spontaneous bleeding, and the condition may not become apparent until abnormal bleeding occurs following surgery or a serious injury.” (Genetics Home Reference) Males are more prone to Hemophilia. Two main types are Hemophilia A and Hemophilia B. Someone with Hemophilia A lacks clotting factor 8. Whilst people with Hemophilia B lack clotting factor 9. If one blood clotting factor is eliminated, the process of clotting falls apart. It can be compared with a chain reaction.
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.
Occasionally a baby is born with this disorder and no family history of it. When this happens, it could be caused by a hidden gene, which is when several generations of female carry it, and it has not affected any male members of the family or a spontaneous mutation. With each pregnancy, a woman who is a carrier has a 25% possibility of having a son born with hemophilia. Since the father's X chromosome is what determines if the unborn child will be a girl, all of the daughters born of a man with hemophilia will be carriers. None of his sons, which is determined by the father through his Y chromosome, will have hemophilia. Individuals who suffer from mild hemophilia may choose to use a non-blood product known as Desmopressin acetate (DDAVP) to help treat the small bleeds and/or scrapes. For deep cuts or internal bleeding, the treatment called DDAVP may not be enough and therefore, may need a much more complex treatment. The clotting factor must be replenished so the affected person can form a clot to stop the bleeding. Plasma is one of the ‘human blood products’ than is used for factor replacement. Another factor replacement option is using the recombinant factor, which is produced in a laboratory.