A Summary of Thalassemia

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Definition: Thalassemias are forms of inherited autosomal recessive blood inherited in which the body makes an abnormal form of hemoglobin, which is an iron-rich protein in red blood cells. Thalassemias cause affected hemoglobin to be unable to utilize their transport function, causing the body to build fewer normal red blood cells and hemoglobin than normal, leading to anemia. Cause: Thalassemia occurs when there is a defect in a gene that helps control production of one of the two proteins that Hemoglobin consists of. (Alpha or beta globin) Alpha thalassemia trait occurs if one or two of the four genes that are required to make sufficient alpha globin protein chains. If two or more of the genes are missing, medium to serious anemia occurs or cause mental retardation in some studies. ( (RJ., 2012) Beta thalassemia occurs if two genes that are required to build sufficient beta globin protein chains are altered. The severity of beta alteration depends on how much one or both genes are affected. (G., 2012) If both genes are affected, the result is moderate to severe anemia. People that possess the highest concentration of the Thalassemia gene are Middle Eastern, Southern Asian, and African descent. (Azma RZ, 2012) Importance: Prevalence: Thalassemia is the “most prevalent genetic condition in Singapore” by Dr Angeline Lai, Head of Genetic Service, Department of Pediatrics, KK Women’s and Children Hospital. And she also quotes that: “About 5 per cent of our local population, or 1 in 20 persons, is a carrier for thalassemia, which could be Alpha, Beta Thalassemia or Hemoglobin E. (Xchange, 2012). Complications of the disease: Patients suffering from moderate or severe thalassemia may be going through much pain if left untreated. This may result in heart failure and liver problems, resulting in the patient being more likely to develop infections. Severe thalassemia may cause early death due to heart failure and have to get regular blood transfusions and therapy to remove excess iron from the body. Although these blood transfusions can help control some symptoms, they may result in too much iron in the blood, which can damage the heart, liver, and endocrine system. Financial cost: Info from thalassemia patients forum (Cost of Treatment for Thalassemia, 2010), all these treatment cost may add up to $20000 a year, and this is a real burden to bear for poorer families and to the government due to the medical subsidies. Treatment and Precautions: Precautions: We cannot prevent Thalassemias because it is inherited. However, we can conduct prenatal tests to detect these blood disorders before birth, and inform the parents to prepare them for the additional responsibilities of bearing the child. Furthermore, Family genetic studies can be done to identify carriers of the missing or altered hemoglobin gene that causes thalassemia and inform them of the risk of passing the disorder to their children. Treatment: Treatments vary depending on the type and severity of the disease. Firstly, there is the blood transfusion in which patients receive leukocyte-reduced red blood cells for transfusion. This is not effective as patients have to do it regularly and there are complications like allosensitization which can create significant problems for patients. (Chou ST, 2012) Next, Chelation therapy could be done using Desferrioxamine and Deferiprone to prevent or improve serious complications of Thalassaemia. These drugs have a retardation effect on the functional and structural changes during fruction and can slow down the rate of Hemoglobin becoming defective. (Sattarahmady N, 2012) However, cost of this therapy was estimated at USD 30000 to 35000 which may be a serious economic burden for patients. (Payne KA, 2007) Then there is the Bone Marrow Stem Cell transplantation which should be offered to patients as soon as possible especially if there is a HLA compatible sibling or family member. If there is no compatible transplant...
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