Mnitring Sikl ll Anaemia - Coursework Example

Mоnitоring Siсklе Сеll Аnаеmiа Name Institution Date Mоnitоring Siсklе Сеll Аnаеmiа Introduction The monitoring of sickle cell anaemia is important for better management and treatment in patients suffering from the disease. It is evident that, sickle cell anaemia is a disease which is prevalent to both children and adults. Therefore, various tests and diagnosis reassessments should be carried out at different times to ensure the patient has a positive progress in fighting sickle cell anaemia. This essay aims at reviewing various methods that are used clinically for monitoring the occurrence of sickle cell anaemia. The essay also aims at discussing the different types of genetic lesions and a range of methods both genetic and non-genetic used for analysing sickle cell anaemia. There are various methods that are used clinically for monitoring the occurrence of sickle cell anaemia. To begin with, after new born screening, it is important to carry out a confirmation test of the diagnosis through carrying out a second new born screening for the infant. This should be acquired together with the diagnosis reassessment within a period of one year as the level of fetal haemoglobin falls to the adult. According to Benjamin, Dampier, Jacox, Odesina, Phoenix, Shapiro, Strafford, Treadwell (1999), to monitor the extent of damage of the end organ that is associated with sickle cell anaemia, there are various evaluations that are clinically approved and should be carried out. This involves hematology consultation whereby the additional evaluations of the patient may vary with the age as well as the clinical status of the person. For infants at the age of twelve months and above, there are various baseline laboratory tests or studies that should be carried out including; CBC and reticulocyte count, measurement of Hb F (%), assessment of iron status, a thalassemia screen. A thalassemia screen comprises of hemoglobin electrophoresis or even the HPLC as well as inclusion body prep. The laboratory tests also include; baseline vitamin D tests, renal and liver function tests and extended red cell pnenotyping. The red cell phenotyping is carried out so as to   antigen which matches blood is given when transfusion is in urgent need. At childhood monitoring of the occurrence of sickle cell anaemia should be done by offering HLA typing for the affected patients as well as all siblings that fully match biologically. For older persons, monitoring of the occurrence of sickle cell anaemia should be done through surveillance (Uddin, Dickson, Brodine 1974, p.1405). When monitoring adults, surveillance should be carried out by tailoring to specific diagnosis as well as the clinical history of an individual. According to Yawn BP, Buchanan, Afenyi-Annan, Ballas, Hassell, James, Jordan, Lanzkron, Lottenberg, Savage, Tanabe, Ware, Murad, Goldsmith, Ortiz, Fulwood, Horton, John-Sowah (2014, p.1033), it is important to note that, most of the sickle cell anaemia patients usually benefit from age dependent routine screening that allows for early detection of the disease as well as the treatment of end organ damage. Affected adults require a comprehensive medical and social evaluation on routine basis so as to evaluate the risks, review the care plan, education as well as growth and development assessment. This is done by performing a social work assessment while emphasising on resources, support and the disease impact on the lifestyle of individuals. It is also recommended for patients to undertake dental care routinely. Clinically, patients with sickle cell anaemia should have a mental health and neurocognitive assessment through periodic screening of their mental health. This screening or test is a clinical method carried out to identify whether signs of anxiety, isolation as well as depression can occur on the patient. Neurocognitive testing is usually performed before children begin the schooling and periodically, the test is repeated for the purpose of identifying difficulties in learning that are associated with silent cerebral infarcts among other factors. Annual laboratory assessment is also a recommended method of monitoring the occurrence of sickle cell anaemia. This involves lad evaluations for a patient including; CBC with differential as well as reticulocyte count, iron status assessment, liver function tests, LHD and Vitamin D level. Liver function tests that are carried out include; BUN, urinalysis and serum concentration of creatinine. LHD test is carried out since it makes hemolysis. Vitamin D is tested because its deficiency is highly associated with children. Baseline values are also recommended to be given to parents so as to make a comparison in the time of illness. Phenotyping of the extended red cell is also necessary to be carried out at least once so as to decrease the alloimmunization with transfusions risk (Wun & Hassell 2009, p.106). To monitor the end organ, a TDC among other tests should be obtained for a child beginning at the age of seven years. Such tests include; chest x-ray, ECG, pulmonary function tests, abdominal ultrasound examination as well as ophthalmology evaluation. Further cardiac as well as pulmonary evaluation tests should also be carried out for older persons who have any health concerns that are related to cardiac or pulmonary. This involves tests such as echocardiogram that determines the tricuspid regurgitant jet considering the catheterisation of the right heart depending on signs and symptoms. It also involves a pulmonary function testing together with a six minute walk test. A sleep test should also be done to assess the night time hypoxemia (Darbari & Panepinto 2012, p.290). A Hemoglobin S evaluation test is an important test that should be undertaken for sickle cell patients for the purpose of monitoring the occurrence of the disease. This test is carried out to measure and follow the amount of Hb S when a patient is under treatment. After blood transfusion has been given to a patient, is important to carry of the Hemoglobin S evaluation test for ensuring that its level is reduced. There are other tests that are recommended clinically to evaluate an individual capacity of developing sickle cell anaemia (Dong, Rivella, & Breda 2013, p.293). One of the tests is a complete blood count is important for detecting anaemia. The CBC test is usually a snapshot of the number of cells that are within the blood stream. It is a test that specifies the present number of red blood cells as well as the level of haemoglobin comprised in these cells. It also evaluates the red blood cells size and shape that are present in the blood. This is a test that is used to easily detect the occurrence of sickle cell anaemia in a patient. A blood smear is another test that can be used in monitoring the occurrence of sickle cell anaemia. This test is also known as the peripheral smear or the manual differential. The blood smear test involves looking at a layer of blood which is thin and stained on a slide using a microscope. Evaluation of the number as well as the type of red blood cells is done so as to see whether they are normal. With this test, it is easy to see the sickle shaped red blood cells on the blood smear (Bonham, Dover, Brody 2010, 363). Iron studies is another test that involves tests such as; UIBC, iron, TIBC, transferrin saturation and ferritin. They are carried out to measure the different aspects of the storage of iron as well as its usage in the body. Individuals undertake these tests to identify whether they have deficiency of iron that results to sickle cell anaemia. This test also determines whether an individual has an excess of iron in the blood. It is evident that, patients of sickle cell anaemia who receive continuous blood transfusions have a high probability of experiencing an overload of iron. There are different types of genetic lesions that are associated with sickle cell anaemia. There are anatomic lesions that occur as a result of inferred polymerization of Hb S. this is a complicate of the sickle cell anaemia such as glaucoma, tumour in the spleen, recurrence after treatment, splenic infarction and infections (Diggs 1973, p.189). There are also focal lesions that occur as a result if losing maximal concentrating capability of urine. This type of lesion progresses with age and is seen to develop in many adults with sickle cell anaemia. Renal papillary necrosis is another type of lesion that occurs from Hb AS. It increases with age and is usually due to deficiency of renal concentration capability that increases the complications of sickle cell anaemia including; more severe EHI due to loss of water that increases the hyperosmolar state that is important in the EHI pathogenesis. DCI lesions may be also evident in sickle cell anaemia patients. They are foci of hemorrhagic necrosis which are tiny and diffusely scattered all through the spleen. Prolonging of DCI leads to hemorrhage and mimicking infarction that arise from sickle erythrocytes (Statius van Eps, & de Jong 1997, p.2201). Chronic lesions also occur to adult patients with sickle cell anaemia due to congestion as well as haemorrhage present around the arterioles terminal, thickening of terminal arteriolar walls, fibrosis, calcified nodules, scattered siderofibrotic and discreet infarcts. Sickle cell anaemia may also lead to structural lesions like stones as well as neoplasms and make a correction of any problem which is related to urine flow from the calyces all down to the urethra (Atlas, 1974, p.1082). Another type of genetic lesion of sickle cell anaemia is the satellite lesions. These lesions occur due to presence of renal cortex and the pelvic soft tissue, invansions of veins and lymphatics (Rothman, Fulling & Nelson 1986, p.684). They usually exhibit an appearance which is reticular, adenoid cystic or yolk sac-like, areas that are poorly differentiated in a stroma which is highly desmoplastic mixed with neutrophils and lymphocytes marginated. Cardiac lesions are also common to patients with sickle cell anaemia and occur due to surgery complications (Atlas 1974, p.1078). Other genetic lesions associated with sickle cell anaemia include; retinal lesions, nonasoproliferative lesions, neovascular lesions and proliferative lesions. Cerebrovascular lesions are common to children with sickle cell anaemia that arise as a complication of stroke (Masuda, Ogata & Yutani 1993, p.1960). There are various methods that are used to analyse both genetic and non-genetic types of sickle cell anaemia. Molecular genetic testing is one of the methods that is used in analysing sickle cell anaemia. It involves analysing the systematic disorders that are related to pathogenic variants in HBB which are defined by the Hb S presence (Sherry S, Marder 1994, p.335). The molecular genetic testing can be carried out in different methods including; sequence analysis, deletion or duplication analysis and targeted mutation analysis. Sequence analysis is used to detect variants that are likely to be pathogenic, bening and of unknown significance. This method detects most of sequence variants that are related to β-thalassemia (Aloe, Krishnamurti, Kladny 2011, p.337). The deletion analysis is used to detect or identify exonic or whole gene of the coding as well as flanking intronic regions of the genomic DNA that are not detectable by sequence analysis. In this analysis, methods such as quantitative PCR, multiplex litigation dependent probe amplification, long range PCR and chromosomal microarray (McInnes 1980, p.171). The targeted mutation analysis is used to test the β-thalassemia pathogenic variants among other HBB pathogenic variants that are related to other specific hemoglobin variants, it also identifies HBB pathogenic variants Glu6Val, Glu6Lys, Glu121Gln, and Glu121Lys. Conclusion Sickle cell anaemia is a complex disease with many complications. Early detection and monitoring offers a good action in the treatment and management of the disease. There are different methods that are available to monitor and analyse sickle cell anaemia as discussed in this essay. 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Yawn, B., Buchanan, G., Afenyi-Annan, A., Ballas, S., Hassell, K., James, A., Jordan, L., Lanzkron, S., Lottenberg, R., Savage, W., Tanabe, P., Ware, R., Murad, M., Goldsmith, C., Ortiz, E., Fulwood, R., Horton, A., & John-Sowah, J, 2014, Management of sickle cell disease summary of the 2014 evidence-based report by expert panel members. JAMA. Vol.312, pp.1033–48.  Read More