Haemophilic Arthropathy Case Summary

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

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

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.

Research over the past 50 years has demonstrated that using prophylactic treatment regimens in children with haemophilia can prevent repeated bleeding into the joints; subsequently reducing hospitalization, chronic pain, and disability—ultimately resulting in improved quality of life (QoL) [1-4]. Prophylaxis in children with severe haemophilia is a grade 1A recommendation based on strong evidence from both randomized controlled trials (RCTs) and observational research [5]. While primary prophylaxis is undoubtedly the gold standard for preserving joint function in children with severe haemophilia, there is an ongoing debate about prophylaxis in adolescent and adult persons with haemophilia (PWH) [6-8]. The benefits of

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

Hemarthroses are responsible for roughly 75 percent of bleeding episodes in patients with severe hemophilia A degree (Roberts et al, 2010). Signs of hemarthroses include damage to capillaries located under synovial layer caused by mechanical trauma related to joints involvement in the regular daily

Haemophilia is a clotting disorder, which is hereditary and results in bleeding in the skin, mucous membranes (gums, etc.) and additionally the joints. It is the repeated bleeding in the joints that causes the breakdown of cartilage and thus the onset of osteoarthritis.

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.

The understanding of hemophilia has drastically improved over the last century. This has led to an improvement in the treatment of the disease. Despite this however, there has been little research in understanding how to prevent the transmission of the disease. The current understanding of the transmission of hemophilia greatly lags in comparison to the research poured into developing methods of gene therapy treatment.

Haemophilia is an inherited blood disorder in which the blood does not clot and the bleeding disorders are due to defects in the blood vessels, the coagulation mechanism, or the blood platelets. An individual who is suffering from the disorder may bleed spontaneously and doesn’t clot or may bleed for longer period as compared to normal, healthy person.

Hemophilia A is a rare genetic disorder which results in blood not clotting normally because it lacks sufficient blood-clotting proteins also called clotting factors. People who have hemophilia A, tend to bleed for a longer time after getting injured because normally, the blood would begin to clot leaving the wound to heal. One of the main concerns for patients with hemophilia A, is the apprehension of internal bleeding. The most common areas to be found with internal bleeding are the knees, ankles, and elbows. Because these areas tend to be the first impact when we fall and get hurt, they would take most of the force leaving them with the majority of the internal bleeding. Internal bleeding is an issue because it can damage organs and tissue

Hemophilia A, an X-linked genetic disease, is the most common coagulation disorder with an incidence of about 1-2 in 10,000 males and is caused by mutations in the factor VIII (FVIII) coagulation gene [PubMed1]. It causes infected individuals to not be able to coagulate their blood efficiently or at all when getting a cut or some injury in which blood is exposed. This disease can be very deadly because of major blood loss.

Symptoms of haemophilia in young children include, excessive gum bleeding while teething, excessive bleeding from cuts in the mouth and easy or unexplained bruising after falls. Usually children do not get spontaneous joint bleeding until after the age of two. As children get older the symptoms can extend to excessive bleeding when teeth are lost, blood in the urine, surface bruising and the previously mentioned spontaneous bleeding into joints and soft tissue. As children grow older they tend to find ways to keeps the symptoms from affecting their everyday life through experience (This does not mean that the haemophilia is any less severe). Treatments such as pain medications and factor replacement products can be used to lessen joint pain and to make the symptoms less severe, though there is no cure for haemophilia at this time. The severity of the disorder depends on the amount of the factor VIII protein is prevalent in the afflicted. The amount of factor VIII needed for a person to not have the disorder is 50% to 150%, the amount needed for a mild severity is 5%-40%, the amount needed for a moderate severity is 1% to 5% and the amount needed for a high severity is less than

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.