Haemophilia Case Essay Sample

Haemophilia Case Pages
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Description

Hemophilia is a genetic condition characterized by low levels of either of two important clotting factors: factor VIII and factor IX. These factors play a vital role in the clotting mechanism which stops bleeding. Classical hemophilia, also known as hemophilia A is occasioned by a general deficiency of factor VIII resulting from aberrations in the gene located in the x-chromosome that encodes for the factor. On the other hand, deficiency of factor IX causes Hemophilia B or Christmas disease. (Ganong, 1999). Of the two forms of hemophilia, the former is the most prevalent. Estimates indicate that close to 20,000 people in America suffer from this condition. The disease affects males only and is a sex-linked characteristic carried by women (University of Maryland Medical Centre, 2008).

Signs and Symptoms

            Signs and symptoms depend on the seriousness of the clotting factor and include nosebleeds, digestive difficulties, contusions, and blood in the urine. Additionally, there is usually massive bleeding or bleeding for extended periods as well as aches and swellings commonly in the joist of knees and elbows. Intramuscular and intra-dermal swellings accompanied by fever, pain and discoloration of the skin are also common as is bleeding into tissues (Merck’s Manuals, 2005: University of Maryland Medical Centre, 2008).

Diagnosis

            Diagnosis of hemophilia is conducted through a careful analysis of the family history and through blood tests. Blood tests consist of the prothrombrin time (PTT), platelet, factor VIII and IX and platelet count assays. Generally, the PTT takes longer in hemophilia even though the platelet count and PT are observed to be within the accepted ranges. Assay of Von Willebrand’s factor (VWF), constitution of multimer as well as antigen levels is conducted in patients who have been newly diagnosed with hemophilia.  Pre-implantation diagnosis can also be carried out on pregnant women to determine whether their children will have hemophilia (National Heart lung and Blood Institute, 2008). In this instance, an ultra-sound scan is performed to ascertain the child’s sex followed by amniocentesis or the chorionic villus sampling (CVS) test (Merck Manuals, 2005).

Treatment

            There is no cure for hemophilia. However, several mitigating measures and therapies can be carried out in order to help afflicted persons lead comfortable lives. Mitigating measures are preventive in nature and include vaccination of all patients against hepatitis B. Additionally, sufferers should not take NSAIDs and should have identifying information with them at all times. Circumcision should moreover be carried out only on those infants whose status is known.

            Treatment consists of replacement therapy consisting of factor VIII or IX as appropriate and use of topical medicaments that contain bleeding. Desmospressin (DDAVP) is used in less severe cases of hemophilia A as it can trigger the release of low levels of the clotting factors. Valentino (2004) asserts the importance of secondary prophylaxis in management of hemophilia. Surgical interventions such as joint replacements may also be essential. Besides, a host of alternative therapies are also available.

            Alternative therapies which are commonly used to treat hemophilia include self hypnosis which has severally been reported to improve the clotting process. Additionally, nutrition therapy is thought to offer an alternative treatment with some authorities finding vitamin K to be effective in controlling bleeding. In this regard also, vitamin E and fish oil need to be avoided as they are thought to further suppress clotting. Herbs such as hawthorn berry (Crataegus monogyna), ginkgo (Ginkgo biloba), garlic (Allium sativum), ginger (Zingiber officinale), ginseng (Panax spp.) and Horse chestnut (Aesculus hippocastanum) are known to aid in clotting. Besides herbs, homeopathic treatments and acupuncture are other remedies which can be used to mitigate the effects of hemophilia.

Nursing Implications

            The nature of hemophilia has several implications for nursing. First of all, nurses are called upon to ensure that vital signs of such patients within their care are accurately kept at tabs and signs of bleeding are arrested promptly. Nurses are also required to impress on the patients the importance of seeking prompt medical attention in the event of bleeding. Further, the importance of always spotting on the Medic Alert band should be reiterated to the patients. Proper nutritive guidance together with sound training on self-injection is a duty bestowed on nurses.

Prognosis

            Outcomes associated with hemophilia are usually positive. Hemophiliacs generally carry on with their lives normally and are only exposed to the risk of complications when they do not get factor replacement therapy. Complications which may arise thereof include cerebral hemorrhage, anemia, gangrene, and damage to joints and bones. Arthritis may predispose to loss of mobility.

References

Ganong, W.F. (1999).Review of Medical Physiology. US: Appleton & Lange.(pp 1-850)

Merck Manuals. (2005). Haemophilia. Retrieved on 25th September, 2008 from

            http://www.merck.com/mmpe/sec11/ch136/ch136d.html

National Heart lung and Blood Institute. (2008). How is Haemophilia Diagnosed?

University of Maryland Medical Centre. (2008). Hemophilia. Retrieved on 25th

September, 2008 from http://www.umm.edu/altmed/articles/hemophilia-000076.htm

Valentino, L. A. (2004). “Secondary prophylaxis therapy: what are the benefits,

            Limitations and unknowns?” Haemophilia. 10(2):147-157, March 2004.

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