THALASSEMIA
Jeriser Edwards
ASA College
Medical Terminology
Monday and Wednesday
Professor Veloz
Disease: thalassemia Thalassemia is an inherited disease blood disease in which the body makes abnormal forms of hemoglobin (wikipedia, 2014). Hemoglobin is the protein found in red blood cells that carries oxygen. The disorder results in destruction of the red blood cells, which then leads to anemia (wikipedia, 2014). Two main forms of thalassemia are beta thalassemia and alpha thalassemia. Alpha thalassemia occurs, when the genes related to the alpha globin protein are missing or mutated (Holm, 2012). Beta thalassemia is when similar genes affect the production of the beta globin protein (wikipedia, 2014). Alpha thalassemia often occurs more in people of Southeast Asia, Middle East, China and those of African descent. Beta thalassemia is usually found in those of Mediterranean, and other Asian descent (Holm, 2012). African Americans can also be affected as well. The precise form you have will have an effect on your symptoms and prognosis.
Causes of thalassemia: There are several forms of thalassemia. Both beta and alpha thalassemia have subtypes, which include thalassemia minor and thalassemia major (U.S. National Library of Medicine , 2015). You must develop the gene defect from both of your parents to have thalassemia major (U.S. National Library of Medicine , 2015). Thalassemia minor develops if you receive the unreliable gene from only one of your parents. People who have this form of the disease are the carriers and most of the time they have shown no symptoms (U.S. National Library of Medicine , 2015).
Symptoms: The symptoms for thalassemia depend on which type of the disease you have. Thalassemia minor: usually does not cause any symptoms (Holm, 2012). If it does it only cause minor anemia. Beta thalassemia: forms in two major types; thalassemia major also called (Cooley’s anemia) and thalassemia intermedia. The symptoms of thalassemia major (Cooley’s anemia) generally appear before within the first two years of a child’s life (U.S. National Library of Medicine , 2015). The severe anemia related to this condition can be life-threating. This form of thalassemia is usually so severe that it requires regular blood transfusions. Some symptoms include:
• jaundice (yellowing of the skin and the whites around the eyes)
• Frequent infections
• Poor appetite
• Failure to thrive
• enlarged organs
Thalassemia intermedia: is a less serious form of beta thalassemia. People with this condition still have anemia, but they do not need blood transfusions. Alpha thalassemia also has two serious types: Hemoglobin H disease and Hydrops Fetalis (Holm, 2012). Hemoglobin H disease can cause bone problems. The forehead, cheeks, and jaw can possibly become overgrown. In addition to bone problems, hemoglobin H disease can cause these other symptoms as well:
• jaundice
• Extremely enlarged spleen
• Malnourishment
Hydrops Fetalis is a very severe form of thalassemia. It occurs from birth, and most people with this form of Thalassemia are either stillborn or die shortly after being born.
Lab Tests and Exams: your physician will do a physical exam to check for an enlarged spleen. A sample of blood will then be sent to a lab to be tested. Red blood cells will be small and abnormally shaped when looked at under a microscope (wikipedia, 2014). A CBC (complete blood count) will show anemia. A hemoglobin electrophoresis test will detect an abnormal form of hemoglobin and a mutational analysis will help detect alpha thalassemia.
Treatment: regular blood transfusions of the red blood cells is the main treatment for people who are diagnosed with severe or moderate thalassemia (wikipedia, 2014). A blood transfusion treatment gives you healthy red blood cells and normal hemoglobin (thalassemia of canada, 2015). When receiving blood transfusions a patient with thalassemia major should not take iron supplements because taking iron supplements will cause high amounts of iron build up in the body and that can be harmful or can result in fatality. Your doctor might also prescribe Folic Acid supplements which are B vitamins that help build healthy blood cells. As well as vitamins your physician might also recommend Iron Chelation Therapy which is used to remove excess iron from the body ( U.S. Department of Health & Human Services, 2012).
Conclusion: I learned a lot about this disease from all the research that I did. As someone who is anemic it was interesting to learn about different forms of anemia that I never knew about. Researching thalassemia gave me a better insight on the disease and a better understanding of what people with severe forms of anemia deal with and I’m grateful that I don’t have severe anemia.
Bibliography
U.S. Department of Health & Human Services. (2012, July 3). How Are Thalassemias Treated? Retrieved from national heart blood and lung institute: http://www.nhlbi.nih.gov/
Holm, G. (2012, July 17). Thalassemia. Retrieved from healthline: http://www.healthline.com/health/thalassemia thalassemia of canada. (2015, January 14). Disease & Treatment. Retrieved from thalassemia: http://www.thalassemia.ca/disease-treatment/
U.S. National Library of Medicine . (2015, January 12). Thalassemia. Retrieved from medlineplus: http://www.nlm.nih.gov/medlineplus/ency/article/000587.htm wikipedia. (2014, December 28). Thalassemia. Retrieved from wikipedia: http://en.wikipedia.org/wiki/Thalassemia
Bibliography: U.S. Department of Health & Human Services. (2012, July 3). How Are Thalassemias Treated? Retrieved from national heart blood and lung institute: http://www.nhlbi.nih.gov/ Holm, G. (2012, July 17). Thalassemia. Retrieved from healthline: http://www.healthline.com/health/thalassemia thalassemia of canada. (2015, January 14). Disease & Treatment. Retrieved from thalassemia: http://www.thalassemia.ca/disease-treatment/ U.S. National Library of Medicine . (2015, January 12). Thalassemia. Retrieved from medlineplus: http://www.nlm.nih.gov/medlineplus/ency/article/000587.htm wikipedia. (2014, December 28). Thalassemia. Retrieved from wikipedia: http://en.wikipedia.org/wiki/Thalassemia