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Factors of the Prevalance of Thalassemia

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Thalassemia is the name of a group of genetically inherited blood disorder passed down through families in which the body makes an abnormal from of hemoglobin, the protein in red blood cells that carries oxygen. It results in excessive destruction of red blood cells, which leads to anemia. It is not infectious and cannot be passed from one individual to the other by personal or any other contact, or through blood transfusion, food or air. Hemoglobin is made out of different parts. The main are called alpha chains and beta chains which are put together to make the hemoglobin molecule. In thalassemia, part of the hemoglobin is faulty – usually either the alpha chains or the beta chains. This means that some of the hemoglobin does not work properly.as a result, there is not enough normal hemoglobin and the red blood cells break down easily. This makes the person lacking in hemoglobin, with various symptoms. Meanwhile, the body tries to make more hemoglobin and more red blood cells. So the blood system goes into overproduction mode which can cause more symptoms and complications.Thalassemia affects approximately 4.4 of every 10,000 live births throughout the world. They occur at a high frequency in Africa and the Mediterranean region, the Middle East, the Indian subcontinent and Southeast Asia. According to the Sri Lanka Thalassemia most prevalent in the Kurunegala, Kandy, Puttalam, Anuradhapura, Polonnaruwa, Matale and Nuwara Eliya districts. The highest number of patients has been recorded from the Kurunegala District. The main types of thalassemia are called alpha thalassemia and beta thalassemia.

Alpha thalassemia – people who do not produce enough alpha globin protein have alpha thalassemia. It is commonly found is Africa, the middle east, India, southeast Asia, southern china, and occasionally the Mediterranean region. Alpha globin is made by four genes. Two on each strand of the chromosome 16. Individuals who have one or two abnormal alpha globin genes have alpha thalassemia trait.Beta thalassemia – people who do not produce enough beta protein have beta thalassemia. It is in people of Mediterranean decent such as Italians and Greeks, and is also found in the Arabian peninsula, Iran, Africa, southeast Asia, and southern china. Beta globin is made by two genes, one on each chromosome 11. Individuals who have one abnormal beta globin gene have beta thalassemia trait.

Each type of thalassemia is then classified into more types. According to how severe the condition is. This mainly depends on how many thalassemia genes are involved. The mildest types are called thalassemia trait. The more severe beta types are beta thalassemia major (BTM) and beta thalassemia intermedia (BTI). The more severe alpha forms are Hb Barts and HbH disease. There are several tests that are conducted to confirm a suspected case of thalassemia, including a complete blood count (CBC) and a hemoglobin electrophoreses. These should be followed by a genetic analysis for both beta thalassemia and alpha thalassemia, even if initial results already indicate that either beta thalassemia or alpha thalassemia is a likely diagnosis.

Beta thalassemia major

A person with BTM has two beta-thalassemia genes. Most of their hemoglobin is abnormal and does not work. This causes severe anaemia starting around the age of 4-6 months. Before that, the baby is not affected. This is because until age 3-6 months the baby makes a different type of hemoglobin, called fetal hemoglobin, which is not affected by the thalassemia gene. With BTM, you need regular blood transfusions, plus other treatment to prevent complications.There are two main treatments.blood transfusions an chelation treatment.

Blood transfusions are started if person have anaemia plus other symptoms, such as poor growth, not feeding well or other problems. Blood transfusions give normal red blood cells to the person with BTM. This corrects the anaemia for a while, which improves health and helps children to grow normally. However, the red blood cells have a limited lifespan. So, transfusions normally to be repeated every 3-4 weeks.The iron in the transfused blood cells builds up in a condition known as “iron overload” and becomes toxic to tissues and organs, particularly the liver and heart. Iron overload typically results in the patient’s early death from organ failure. It is monitored by estimating serum ferritin levels regularly and if the levels exceed, the patient should be started be iron chelating agents. It is the major cause of morbidity for thalassemic patients. Even non-transfused patients develop iron overload secondary to increased intestinal absorption of dietary iron, it causes mortality and organ injury. There are two goals of iron chelation therapy. The binding of toxic non-transferrin bound iron in the plasma and the removal of iron from the body. The compliance with chelation therapy is vital for the thalassemic patient’s long term survival. Many patients find the administration of desferal so difficult that they do not keep up with it or abandon treatment altogether. It they do not have access to another. Chelating option, this is extremely dangerous. Lack of compliance with chelation therapy leads to accelerated health problems and early deathThalassemia is a costly disease. It is a disease which needs lifelong therapy. Thalassemia therapy includes regular blood transfusion, administration of several medications such as iron chelating agents and other concomitant medications. The cost of therapy in these patients as well as any other disease does not only cover medication cost.

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Factors of the prevalance of Thalassemia. (2018, December 17). GradesFixer. Retrieved February 26, 2021, from https://gradesfixer.com/free-essay-examples/factors-of-the-prevalance-of-thalassemia/
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Factors of the prevalance of Thalassemia. [online]. Available at: <https://gradesfixer.com/free-essay-examples/factors-of-the-prevalance-of-thalassemia/> [Accessed 26 Feb. 2021].
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