Pathophysiology of Thalassemia Paper Example

Introduction

Thalassemia is a genetic disease passed down through generations from one parent or both parents to the next. According to Finotti et al. (2015), it is an inherited disease that limits the amount of hemoglobin generated or formed by the body, thus a blood disorder. Hemoglobin is essential to the body because it is the major protein component in the red blood cells that is responsible for carrying and transporting oxygen throughout the body. Therefore, thalassemia disorder destroys large quantities of red blood cells in bodies, directly affecting the levels of oxygen in bodies which then results in anemia.

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Thalassemia occurs in different forms with regards to which protein gene in hemoglobin is affected; Alpha globin or beta globin. As Xie et.at. (2014) argues, if a gene related to the Alpha globin is mutated, missing or changed then it results in the condition Alpha-thalassemia. But if the production of the beta globin protein in hemoglobin is directly affected, then it leads to beta thalassemia. The regions of the affected populations of both forms of thalassemia vary from the Mediterranean (Beta) to the middle east and Africa (Alpha)

Hence, Thalassemia Beta and Thalassemia Alpha can be broken down into two forms which include; Thalassemia Major and Thalassemia Minor. Thalassemia minor occurs if one inherits the faulty gene from a single parent thus are referred to as carriers of the disease, hence never show any symptoms. However, conferring to Finotti et al. (2015), when a person inherits the faulty genes from both parents, they develop thalassemia major, which is symptomatic and is the focus of discussion. The disorder is very severe, and the symptoms appear very early and continue over some time. The symptoms include; having a pale skin, very bad or poor appetite, increased body infections, stunted and slowed growth process, jaundice (the skin appears to be yellowish), swelling of the abdomen, deformed bones (bones can also appear weak and thin), enlarged heart, liver and spleen (mostly occurs if no treatment is provided), occurrence of possible heart failures and fatigue.

Diagnostic Testing and Evidence-based treatment for Thalassemia

Testing and diagnosis are majorly done by performing different lab tests using a single blood sample to determine the severity of the disease in the body. These tests may include; A CBC test (Complete blood count) the amount in terms of number, the size and the level of maturity of the blood cells in a given volume of blood. Secondly, Hemoglobin electrophoresis with hemoglobin F and A2 quantitation. This test helps to differentiate which type of hemoglobin if its beta or alpha. Thirdly, CVS (Chorionic villus sampling). A CVS is mostly conducted on pregnant women to determine if the baby may be already affected. It is also referred to as amniocentesis. Diagnosis of Thalassemia to provide treatment will be based on different rationales with regards to the outcome of the tests. The overall general health of the patient, medical history of the patient, age of the patient, the severity of the sickness, expected time duration for the condition to last, the patient's ability to deal with and handle the provided medicines, procedures and therapies suggested and lastly the preference/opinion of the patient. Origa, (2017).

Treatment entails but is not limited to the following procedures First is the long-term blood transfusion therapy. Blood transfusion therapy is the primary treatment/method of care for patients for the long term. The primary purpose of this is to improve the existing condition of anemia and also to suppress/ reduce the ineffective erythropoiesis. Xie et al. (2014). The inability of an individual's body to compensate for the low hemoglobin in the body thus affecting the daily routine and quality of life of this individual, and significant input from the medical team, family and patient are some of the factors to consider before starting transfusion therapy. The primary aim of transfusion is to enable healthy growth and to increase the activity level. It will also decrease the absorption of dietary iron into the body.

The second is the iron chelation. Iron chelation is the process of removing the amount of excess iron in the body by using particular drugs. Individuals with thalassemia exposed to blood transfusions, ineffective erythropoiesis, and increased gastrointestinal iron absorption may experience an overload amount of iron in the body. Increased iron in the body impairs the immunity system hence a higher risk of other infections. Therefore, the need for iron chelation. Xie et al. (2014).

Splenectomy is yet another procedure. As Xie et al. (2014) states, splenectomy is the known surgical procedure for the removal of the spleen. The spleen is an organ that helps to fight infections by filtering waste from blood like damaged cells. However, the use of this procedure in thalassemia has declined over the years. This is so due to decreased rates of hypersplenism in patients undergoing adequate transfusion. Also, more people have become aware of the adverse effects of splenectomy on blood coagulation hence should be avoided unless inevitably necessary

Proper support is essential for patients with thalassemia. This is so because of the financial, mental, emotional and physical strain imposed on the individual and families of these patients. Supportive measures may include child life services, psychosocial support, social services, continued genetic counseling, and dietary observations.

The Significance of Thalassemia Information to a Master's Practicing Nurse

The information presented in this case is vital because as it touches on the most critical factors of thalassemia which include type, symptoms, diagnosis, treatment methods and slightly touches on the different elements presented on different individuals living with thalassemia. Hence masters prepared nurse can get this information quickly, go through it and make informed decisions where necessary on how to proceed, checkup or do further consultations with different personnel regarding thalassemia.

The information can also be used by a master's nurse to design a patient education session by following keenly on the step by step discussion provided in the paper. It is easy to understand and pick on the most important factors concerning the patient's diagnosis. Hence can be able to determine the symptoms presented by the patient as outlined in the paper, or give recommendations of the necessary blood tests to be carried out. The nurse can also provide a presentation on the presented mode of treatments with their benefits and disadvantages. The most important issue presented in this case is mostly a diagnosis of thalassemia. From an adequate evaluation of the disease, one can tell the type of thalassemia, the modes of treatment and lifestyle changes that the sick person should undertake.

The most challenging information presented in this case should be the presentation of the disease because it mirrors a lot of symptoms from other lifestyle diseases. Due to this similarity, it is imperative to get the right and timely diagnosis in every case. Misdiagnosis may lead to mistreatment which may, in turn, prolong the suffering of the patient. Hence, it is necessary to align the specific symptoms with the correct diagnosis.

Every patient suffering from thalassemia should consider different safety measures to prolong life. Some of these critical self-help interventions include adherence to the dietary requirements, adherence to treatment, keep safe to ensure they are not exposed to other infections like HIV/AIDS especially during transfusion, adequate rest, adequate family support especially during movement, proper counseling to provide an excellent state of mental health. Lastly, the patient should always sound an alarm and inform the family and the medical team involved for his/ her care for any abnormalities or slight changes they experience during their daily routines and lifestyle practices.

References

Finotti, A., Breda, L., Lederer, C. W., Bianchi, N., Zuccato, C., Kleanthous, M., & Gambari, R. (2015). Recent Trends in the Gene Therapy Of B-Thalassemia. Journal of Blood Medicine, 6, 69. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4342371/

Origa, R. (2017). B-Thalassemia. Genetics in Medicine, 19(6), 609.

Xie, F., Ye, L., Chang, J. C., Beyer, A. I., Wang, J., Muench, M. O., & Kan, Y. W. (2014). Seamless Gene Correction Of B-Thalassemia Mutations in Patient-Specific IPSCU Using CRISPR/Cas9 and Piggybac. Genome Research, 24(9), 1526-1533. Doi:10.1101/gr.173427.114