The present paper focuses on the phenomenon of thalassemia, its pathophysiology, diagnostic testing and its peculiarities as well as treatment modalities and other relevant practical aspects. Along with such, the use and potential empirical significance of the given study are evaluated from the perspective of masters prepared nurse. Its significance is discussed for both practical implementation and use for the purpose of patients education. It is expected that the provided information guarantees not only proper health care process but also safety and development of lifestyle options corresponding to the peculiarities of the disease.
Thalassemia is considered to be one of the most commonly diagnosed diseases of genetic nature (Higgs, Engel, & Stamatoyannopoulos, 2012). According to Higgs et al. (2012), approximately 60,000 people are born with a severe condition of the given disease annually. McCance, Huether, Brashers, and Rote (2014) define the term of thalassemia as inherited autosomal disorder. The majority of the individuals in the risk group are from tropical and subtropical areas (Higgs et al., 2012). Furthermore, thalassemia was one of the first molecular disorders identified in the history of medicine (Higgs et al., 2012). Thorough and detailed study of the given disease and development of its treatment has been conducted during the last 40 years.
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More precise definition of the disorder reveals that thalassemia is a blood disorder that is predetermined by DNA mutative alterations in cells which produce hemoglobin (McCance et al., 2014). As a direct consequence, red blood cells fail to carry oxygen in the organism. The quality and capacity of the aforementioned cells decrease. The ramifications of such a development include weakness, shortness of breath, fatigue, and overall symptomatic range of anemia.
There are two types of thalassemia that are distinguished in accordance with the number of gene mutations as well as the particular section of molecule of hemoglobin that is influenced by the disease, namely, beta or alpha (McCance et al., 2014). Hence, alpha-thalassemia and beta-thalassemia are recognized.
Vichinskiy and Levine (2012) define beta-thalassemia as a disorder that may result from decreased production of beta globin chains, resulting in relative excess of alpha globin chains (p. 1), whereas alpha thalassemia should be comprehended as an inactivation of alpha globin genes that leads to a relative increase in nonfunctional beta globin or gamma globin tetramers and subsequent cell damage (Vichinskiy & Levine, 2012, p. 1). Nevertheless, there is a considerable diversity in types and peculiarities of thalassemia patients diagnoses. Hence, a variety of diagnostic approaches and methods were developed.
Every diagnostics should be preceded by a complete DNA testing (Vichinskiy & Levine, 2012). The given test will outline the main directions of treatment and family counseling that is an essential element of the holistic therapy in case of thalassemia diagnosis. Along with such, the confirmation of the given diagnosis is required (Vichinskiy & Levine, 2012). It is especially important to perform the confirmation before the transfusion therapy. To be more precise, hemoglobin electrophoresis is the first diagnostic test. Fractions of hemoglobin A, A2 , F, H, E, and other variants are measured. Hemoglobin analysis by hemoglobin electrophoresis or high performance liquid chromatography is used (Vichinskiy & Levine, 2012, p.1). There may be errors in the test outcomes as mutations often overlap provoking either incorrect outcome or completely false diagnosis. The solution for this dilemma is a genetic analysis. An additional measure in the given context is screening of the parents and siblings if any (Vichinskiy & Levine, 2012). Finally, it is of crucial significance to complete a thorough, detailed, and consistent medical history of the patient. Its importance is related to the range of factors that may decrease hemoglobin only temporarily such as viral illness, marrow-suppressing medication, or exposure to environmental factors such as lead (Vichinskiy & Levine, 2012, p. 2). Once a holistic picture of the disease has been acquired, the course of therapy should be developed and implemented.
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The prevailing majority of thalassemia types require blood transfusion as the core therapeutic element. Vichinskiy and Levine (2012) highlight that the ultimate goal of transfusion therapy is twofold, namely, to improve the anemia and to suppress the ineffective erythropoiesis. Chronic transfusions prevent most of the serious growth, skeletal, and neurological complications of thalassemia major (p. 2). Nonetheless, the course of transfusion reveals specific complications that provoke frequency of morbidity in patients with thalassemia diagnosis. The approach to blood transfusion should be maximally safe, justified in accordance with peculiarities of medical history and health status of the patient, and rational in order to be effective (Breda et al., 2012). For instance, the patients that have such conditions as ?+/?+ thalassemia; hemoglobin E-? thalassemia; hemoglobin H disease; and hemoglobin HConstant Spring (Vichinskiy & Levine, 2012, p. 2) do not need chronic transfusional therapy since they have a thalassemia intermedia phenotype. At the same time, regular control should be conducted as far as the patients with given phenotype tend to reveal changes occasionally, and transfusion may be required in the future. It is also crucial to underline that the decision to conduct chronic transfusion involves considerable responsibility and input. To be more precise, not only medical personnel but also the patient and his or her family are expected to contribute to it. Support of the family and personal accomplishments in terms of lifestyle and treatment peculiarities are crucial in the course of transfusion therapy. Furthermore, the following factors should be taken into consideration during such treatment: poor growth; inability to maintain daily routines and activities such as going to school and work; evidence of organ dysfunction; evidence of cardiac disease; pulmonary hypertension; and dysmorphic bone changes (Vichinskiy & Levine, 2012, p. 2). It is also important that thalassemia diagnosis is considered to be a specific condition, and standard guidelines for blood transfusion should not be implemented in this case (Health Sciences Authority, 2011).
The discussion of the core aspects of thalassemia provides a constructive outline for the masters prepared nursing personnel. Nurses are expected to be aware of each type of the disease, its peculiarities and threats as well as to align each type with particular therapy with identification of potential complications and side effects. Furthermore, the given study is a background for the development of educational sessions for patients and their families. These sessions should include such three parts as pathophysiology and major threats of the disease, the course of treatment and its main challenges for a patient, and the significance of family support and close connection with the patient during the course of treatment. The most important information presented in the given case is the part underlying the dependence of the therapy type on peculiarities of individual thalassemia condition since it predetermines the efficiency of the whole treatment course and level of improvement of patients health. Simultaneously, this data is also the most challenging one since it requires more in-depth insight and detailed study. The patient safety depends both on healthcare personnel and on his or her behavioral patterns. It is crucial for a patient to comprehend the level of personal responsibility for the treatment of disease and to adhere to all the prescriptions and recommendations of the doctor.
Thus, thalassemia is a complicated and hazardous disease that requires proficient treatment and proper involvement of both a patient and his or her family in it. The conducted study is both a basis for professional performance of a masters prepared nurse and a background for guidelines for patients and their families.