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Thalassemia as a Genetic Disorder and Its Management Research Paper

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Updated: Sep 4th, 2020


Thalassemia is a genetic disorder impacting the formation of hemoglobin synthesis. Management of thalassemia usually includes regular immunizations, diet modification, and exercise. The purpose of the project is to study the effectiveness of the proposed management approaches and determine the mechanisms responsible for the effect. The topic was chosen to determine the feasibility of non-intrusive management options for thalassemia management programs. The significance of the topic stems from its ability to improve the understanding of the issue.


Thalassemia is an umbrella term that covers a range of blood disorders. The condition is genetic in origin and is thus inheritable. The central mechanism behind the disorder is the inability of the organism to produce hemoglobin, a protein responsible for the delivery of oxygen by red blood cells. The exact type of thalassemia is determined by the specificities of the deficiency of hemoglobin production. The most widespread type is beta-thalassemia, which impacts the synthesis of normal adult hemoglobin, generated by the human body throughout its life cycle (Karimi et al. 586). Depending on the severity of the condition, the disorder can be categorized as thalassemia minor and thalassemia major. The former is a relatively harmless form of the disorder, which does not constitute a major health issue. In extreme cases, people with thalassemia minor are subject to symptoms resembling mild anemia, which is sometimes interpreted as the deficiency of blood iron. The second subtype, thalassemia major, is a clinically significant disorder that has major implications for the impacted person’s development. The effects of thalassemia major become noticeable in early childhood and persist throughout life.

Treatment Options

As was mentioned above, beta-thalassemia is an inheritable condition, which means it cannot be prevented. However, a variety of treatment options are available to the impacted population. The most common treatments of thalassemia major include bone marrow transplant and blood transfusion. In less severe cases, it can be controlled with pharmacological interventions. Finally, in certain cases, a surgery, such as a splenectomy, may be required (Vichinsky 197). Finally, a range of supportive measures can be included in the treatment plan, such as folic acid replacement. The condition of the sufferers is often monitored to detect and address possible complications, such as heart failure, osteoporosis, and hypertension. The described measures are applicable predominantly to thalassemia major, which has clinically significant effects on patient health. The treatment of thalassemia minor and mild forms of thalassemia major is limited to monitoring and, in some cases, lifestyle modifications.



Regardless of the necessity for treatment, thalassemia has a noticeable effect on the individual’s quality of life. Immunizations are among the most important aspects of thalassemia management. Regular pediatric immunizations, as well as adult immunization against hepatitis A and B, are essential for health protection, especially for patients who undergo blood transfusions (Musallam et al. 67).


In addition, the current knowledge on the subject suggests nutritional adjustments for patients with thalassemia minor and mild cases of thalassemia major. The rationale for the recommendation is the controlled intake of certain elements, such as folate, calcium, vitamin D, and a number of trace minerals. The exact contents of the diet in question are developed by a dietician based on nutritional history, results of annual dietary evaluations, the current state of the disorder, and, in the case of pediatric thalassemia, a child’s growth status. Importantly, the intake of iron-rich foods, including meat, fish, fortified cereals, and certain juices. This aspect of the diet is especially important since thalassemia minor exhibits a number of similarities with conditions related to iron deficiency. As a result, the patients may be tempted to include some of the listed foods as a result of misdiagnosis or misguided independent research.

Another important component of the diet is calcium-rich foods. Thalassemia-impacted patients often experience secondary health problems with bone formation, which puts them at an increased risk of fractures and related injuries (Cao and Kan 9). From this perspective, calcium-rich foods provide the necessary supply of nutrients to strengthen the musculoskeletal system.


Finally, physical activity is often included in thalassemia management recommendations. The rationale behind the suggestion is the general tendency among patients with thalassemia to prefer a sedentary lifestyle and ignore physical activity. In the majority of cases, this behavior can be attributed to the feeling of weakness as one of the symptoms of the disorder. In severe cases, patients may experience pain that discourages them from exercising regularly. Finally, exercise is known to improve general wellbeing and strengthen both the cardiac and musculoskeletal system (Cao and Kan 11). Importantly, due to health limitations, thalassemia sufferers are advised to consult with their healthcare providers regarding the recommended intensity and frequency of the exercise to avoid adverse effects.


As can be seen, each of the recommended approaches is consistent with the current understanding of the mechanisms associated with the condition. The dietary modification is expected to address deficiencies observed in the impacted population and mitigate the most common risks created by thalassemia. Exercise, which is another popular option, has a twofold effect of increasing general wellbeing and improving patients’ wellbeing while at the same time addressing physical activity deficiencies common among the impacted population. It is reasonable to conclude that the current approach to management is feasible and can be included in treatment plans due to its overall beneficial effect.

Works Cited

Cao, Antonio, and Yuet Wai Kan. “The Prevention of Thalassemia.” Cold Spring Harbor Perspectives in Medicine, vol. 3, no. 2, 2013, pp. 1-16.

Karimi, Mehran, et al. “Guidelines for Diagnosis and Management of Beta-Thalassemia Intermedia.” Pediatric Hematology and Oncology, vol. 31, no. 7, 2014, pp. 583-596.

Musallam, Khaled M., et al. “Cross-Talk between Available Guidelines for the Management of Patients with Beta-Thalassemia Major.” Acta Haematologica, vol. 130, no. 2, 2013, pp. 64-73.

Vichinsky, Elliott. “Non-Transfusion-Dependent Thalassemia and Thalassemia Intermedia: Epidemiology, Complications, and Management.” Current Medical Research and Opinion, vol. 32, no. 1, 2016, pp. 191-204.

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