The Causes of Hemophilia A and Its Prevalence - Essay Example

Hemophilia A Hemophilia A is a disease that is predominantly prevalent in the male population with the females acting as carriers. It occurs due to abnormality in the blood clotting process, thereby causing abnormal bleeding. Carrying out various tests to establish the presence of the disease is very essential. This is because bleeding may occur due to other conditions other than Hemophilia A. In addition, tests are important to distinguish the disease from other forms of Hemophilia. Some emergency cases require urgent medical attention to prevent death. This paper will discuss in detail the causes of the disease, its prevalence, symptoms and diagnosis as well as management and treatment of the disease. Introduction Hemophilia is a bleeding disorder that is hereditary where the blood clotting process takes place in an abnormal way and it is very rare. People affected by hemophilia may bleed for a longer period especially after an accident. Individuals suffering from this disorder may bleed internally especially in joints such as elbows, ankles and the knees. Almost 9 persons out of 10 suffer from Hemophilia A, which is a rare condition and the main type of hemophilia, where the blood clotting process occurs abnormally (Schoenstadt, 1). Factor VIII is essential in the blood clotting process. Hemophilia A may occur due to insufficient factor VIII. If the levels of factor VIII are 6 % to 50% below the normal percentage, bleeding may occur primarily. However, with levels below 1 percent, impulsive bleeding can occur. Most bleeding occurs into the joints of the arms and legs, causing crippling joint damage. In addition, atrophy occurs due to frequent bleeding into the muscles (Lockwood, 1). Lack of factor VIII may leads to various problems. Because bleeders will not close, there is a higher possibility of bleeding out (Hemophilia.com, 1). Causes and Prevalence of Hemophilia A Defect in one of the genes that determine how the body conducts various blood-clotting factors may result to hemophilia A. This gene, known as F8 is present in the X chromosome. One type of the blood-clotting factor is factor 8, which, normally made by the F8 gene. Mutation of the F8 gene hinders clots from forming in case of an accident, which may lead to too much bleeding and in mot cases it may be difficult to control (Schoenstadt, 2). Women have two X chromosomes. In cases where a factor 8 gene does not function, the gene on the other chromosome can perform the task generating enough factors 8. On the other hand, males have only one X-chromosome. If the factor VIII gene on that chromosome is imperfect, they will end up having hemophilia A. Therefore, most people suffering from hemophilia A are males (1). A woman who has imperfect factor 8 gene becomes a carrier. This means that her children may inherit the imperfect gene. In a woman who has the defective gene, any of her male children will have a 50% possibility of having hemophilia A, while any of her female children will have a 50% probability of being carriers (Dugdale et al, 2). In the United States, about 18,000 individuals suffer from hemophilia A and almost 400 babies each year inherit this disorder from their mothers. Even though hemophilia occurs in males only, there is a lower probability that this disorder may affect women. Almost nine individuals out of 10 affected with hemophilia suffer from type A disorder. The people suffering from hemophilia A have a problem with clotting factors. These clotting factors aids in the blood-clotting process, thus their absence leads to hemophilia A (Schoenstadt, 1). Prevalence of hemophilia A varies among different nations. For instance, in the early 1970s, the reported hemophilia A occurrence for the United Kingdom was about 10 per 100 000 males compared to the occurrence of the disorder in the United States, which was around 20 per 100 000 males. Thirty years, the occurrence in the year 2006 in the United States was 8.0 per 100 000 males compared to the occurrence in the United Kingdom, which was 20.7 per 100 000 males (Stonebraker et al, 20). Occurrence of reported hemophilia A is considerably different in various countries, even among the wealthiest nations. Several researches show that hemophilia prevalence in the high-income OECD countries is greater than the rest of the economic classifications. For registry data, the mean occurrence increases with increasing economic capacity (Stonebraker et al, 30). Symptoms and Diagnosis of Hemophilia A The major symptom of the disease, which occurs occasionally and not always, is bleeding and may occur during circumcision of infant. In addition, bleeding problems occurs when an infant starts crawling and walking. Mild cases may be unnoticed until later in life when they occur in response to surgery or trauma. Bleeding into joints is ordinary and internal bleeding may occur anywhere (Dugdale et al, 4). Hemophilia does not have other signs and symptoms other than bleeding, which ranges from moderate to severe bleeding. However, there are other cases of bleeding that do not necessarily show signs of Hemophilia. Symptoms and signs and the frequency of the disease vary with the harshness of the disease. For instance, patients suffering from severe hemophilia go through a lot of bleeding that comprises of soft tissue, intracranial hemorrhage, hemarthrosis and hematomas in addition to minor hemorrhage such as ecchymoses and epistaxis. Patients suffering from moderate hemophilia experience rare impulsive bleeding. However, they usually experience bleeding after minor shock. In most cases, patients suffering from mild hemophilia usually go through hemorrhage after major trauma or surgery (Pruthi, 1487). In most cases, Bleeding usually occurs internally in joints and muscles. A medical emergency is whereby bleeding occurs in the brain. Such a case necessitates quick treatment to prevent death of the patient (Schoenstadt, 3). In most cases, diagnosis of hemophilia occurs from birth since most classical patients’ shows undeniable signs and symptoms in the early age. These symptoms and signs include bleeding in to the surrounding tissues of the main arteries and veins and too much bleeding after cutting of the umbilical cord. There may be also excessive bleeding after circumcision of a male child (10). In addition, all these symptoms seem to become more and more worse as the patients grows older (Hemophilia.com, 11). Reduced or absence of factor VIII activity establishes the diagnosis of hemophilia A. The classification is on the basis of the level of factor VIII activity. The estimated occurrence of the disease is 43%, 26%, and 31%, respectively. Factor VIII is a labile protein; thus, carrying out of factor VIII activity assays is on fresh plasma samples. If this is not practicable, doctors recommend prompt freezing of the sample at –20°C. However, following fresh plasma sample should verify mild to moderate reductions in factor VIII activity (Pruthi, 1486). A doctor performing hemophilia A diagnosis will need to review the patient's personal and family medical history and carry out physical examination and other blood tests. The medical history is very essential for the examiner since it offers a detailed explanation of the probability of inherited Hemophilia. This is particularly important when involving male children, who may acquire the disease from their mother. The tests will indicate whether the patient has a bleeding problem due to hemophilia A. This is because bleeding might occur due to other problems besides Hemophilia A (Schoenstadt, 3). If the doctors perform the tests and finds out that the patient is the first one to experience bleeding disorder in the family, the patient should undergo a coagulation study. Once the doctor identifies a disorder, the other family members will need less testing to diagnose the disorder. Tests to diagnose hemophilia A include: Normal fibrinogen level, Low serum factor VIII activity, Normal bleeding time, Normal prothrombin time and prolonged partial thromboplastin time (PTT) (Dugdale et al, 5). Management and Treatment of Hemophilia A Treatment of hemophilia A occurs in two ways. The modern method of treatment is the most preferred by most patients and doctors. This method involves various treatment aspects entailing prophylaxis or the prevention of bleeding episodes (12). The other form of treatment of classic hemophilia is for the patients suffering from mild and moderate form of the disorder. Doctors recommend that cleaning of a small cut is vital followed by disinfecting and protecting it by a band –aid. Desmopressin acetate can treat minor bleeds caused by the disorder (Hemophilia.com, 13). Replacement therapy happens to be the main form of treatment for hemophilia A. The therapy involves injections of the low or absent clotting factors directly into the bloodstream. In the case of hemophilia A, the absent factor injected in the bloodstream will be factor 8 (VIII). Replacement therapy is useful in long-term basis to prevent bleeding. Individuals suffering from severe hemophilia are more likely to obtain this type of preventive replacement therapy. When bleeding occurs, Replacement therapy can be necessary to stop it. This therapy is mostly applicable to those patients with milder hemophilia A (Schoenstadt, 4). If possible, when bleeding occurs, one should apply ice immediately to stop further bleeding. Open bleeding cuts should have agents that prevent bleeding, and one should administer Factor VIII clotting factor concentrate. Doctors screen the concentrated blood products and treat them to avoid transmission of disease while the recombinant form, which seems to be more expensive, does not contain blood. Clotting factor aids platelets in the blood to form a clot and stop the bleeding (Lockwood, 2). Due to the increased risks of exposure to hepatitis, doctors recommend immunization with hepatitis B vaccine due to common blood infusions (10). Those patients who develop an inhibitor to factor VIII may need treatment with other clotting factors such as factor VIIa, which aids in clotting even without factor VIII (Dugdale et al, 11). However, despite this hope in treatment, immunization is also very important since blood infusions are inevitable. Desmopressin (DDAVP) helps the body release factor VIII stored within the lining of blood vessels and it may treat Mild hemophilia (7). Doctors recommend provision of DDAVP or factor VIII concentrate to a patient prior to dental extractions or surgery in order to prevent bleeding. However, this will depend on the severity of the disease (Dugdale et al, 9). Desmopressin (DDAVP), which is a synthetic form of the hormone vasopressin, stimulates increased fabrication of Factor VIII. Nasal spray administers Desmopressin intravenously (Lockwood, 4). Early treatment of hemophilia is vital since it prevents and hinders further damage to the joints, muscles or other body parts. In most cases, Replacement therapy occurs at home. Treatment of hemophilia A at home has many advantages. However, training is vital to a home doctor performing the Replacement therapy to perform it in a safe and proper manner. When incompetent doctors carry out the replacement therapy, it might cause the patient to accelerate the bleeding rather than stopping the bleeding (Schoenstadt, 4). Nowadays, the most serious effect of hemophilia is the development of inhibitor antibodies, which are mainly against factor VIII. These inhibitors occur regularly in response to infusion of factor VIII concentrates in those individuals suffering from severe hemophilia and hardly ever in those individuals with mild hemophilia A. The occurrence of factor VIII inhibitors is about 6%, with a yearly frequency of 3.5 per 1000 patients with severe hemophilia A (Pruthi, 1487). Individuals suffering from hemophilia A should avoid physical activities such as contact sports since an injury could be overwhelming. This means that in case of an injury, the hemophilic person will experience excessive bleeding and thus, no need of taking part in physical activities (2). If a child is hemophilic, doctor may recommend wearing of protective gear every day. Kneepads, helmets, elbow pads, and belts may aid in preventing injury from accidents or falls (3). For a hemophilic person, an untreated injury that leads to internal breeding can lead to death. Individuals suffering from hemophilia should be keen on watching signs and symptoms of a potential emergency such as a large or deep bruise, blood in the urine or stool, joint pain and swellings (Helaine, 4). Prevention of gum diseases that cause bleeding gums or infection may include regular dental care, including every day brushing of teeth. Scrupulous dental care is a daily precedence for someone living with hemophilia (5). It is emotionally challenging to deal with hemophilia on daily basis for patients currently diagnosed and for the parents whose children suffer from the disease. Therefore, counseling and support groups can offer encouragement and help these individuals in developing skills for daily living and coping with fears and depression (Helaine, 6). Conclusion Hemophilia A is an inherited condition characterized with abnormal bleeding. The disease is highly prevalent in males while most females act as carriers of the condition. The major cause of the disease is the lack of a factor that accelerates clotting of the blood. This lack of clotting causes abnormal bleeding, which ranges from moderate to severe. Diagnosis of the disease entails some blood tests as well as evaluating the medical history of the family of the patient. The disease has various treatment methods but the most appropriate and recommended method is replacement therapy. In addition to this, there are various management procedures that can help in prevention of the disease. Works Cited Dugdale, David C. et al. Hemophilia A. 2010. Web. Helaine, Andrea. What Is Everyday Life Like With Hemophilia? 2011. Web. Hemophilia.com. Hemophilia A. 2010. Web. Lockwood, Wanda. Hemophilia A Treatment. 2011. Web. Pruthi, Rajiv. Hemophilia: “A Practical Approach to Genetic Testing.” Journal of Genetics in Clinical Practice 80.11 (2005): 1485-1499. Print. Schoenstadt, Arthur. Hemophilia A. 2011. Web. Stonebraker, Jeffrey. et al. “A Study of Variations in the Reported Hemophilia Prevalence around the World.” Journal of Hemophilia 16 (2010): 20-32. Print. Read More