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Isabel Hughes

on 13 February 2013

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Transcript of Thalassemia

By: Isabel Hughes Definition of Thalassemia: Two Types of Thalassemia: Two Forms of Thalassemia Location of Mutation Thalassemia is a blood disorder in which the body makes an abnormal form of hemoglobin (the protein in red blood cells that carries oxygen). There are two types of Thalassemia, Alpha and Beta. Alpha occurs when a gene or genes is mutated. Beta occurs when similar gene defects affect production of the beta globin protein. There are two forms of Thalassemia, Minor and Major. They are kind of like they sound. Thalassemia Minor is a lot less dangerous than Thalassemia Major. You can get Thalassemia Minor if only one parent carries the disease. You can get Thalassemia Major if both parents carry it. The mutation is found on chromosomes 16 and 11. Thalassemia Genders that get Thalassemia Both males and females can get Thalassemia. Probability of Contracting Thalassemia The probability of getting Thalassemia if both parents are carrying the disease is 25%. If both parents have Thalassemia major, and have a lot of issues with it, the child most likely won't survive birth. Thalassemia Major (Cooley's Anemia) Thalassemia Major is a serious disorder and is a lot more dangerous than Thalassemia Minor. Thalassemia major's at its most severe can cause stillbirth. Children who are born with Thalassemia Major are fine at birth but start to show signs at the age of two. Other symptoms include; bone deformities to the face, fatigue, growth failure, shortness of breath, and jaundice (yellowish skin). Thalassemia Minor Thalassemia Minor doesn't have the symptoms that Thalassemia Major has. Thalassemia Minor only has small red blood cells that you can see under a microscope. People with Thalassemia Minor are usually very pale thanks to the small red blood cells. Population that is most likely to contract the disease The population that is most likely to contract the disease are the Asian, Chinese, Mediterranean, and African American ethnicity. It can also be found within people who's family history has Thalasseimia. Approximate amount of people in the world who have Thalassemia Famous people with Thalassemia Some famous people who were born with Thalassemia were professional tennis player Pete Sambras and professional soccer player Zinedine Zidane both with Thalassemia Minor. The approximate amount of people who have it worldwide is 1 in 100,000. Treatments for Thalassemia Treatments for Thalassemia Major consist of regular blood transplants. This can be extremely dangerous though if you eat any iron supplements. It would cause you to have to much iron and could lead to heart failure, liver problems, and endocrine system problems. People with Thalassemia Major have a life span of about 20 to 30 years without blood transplants. There are genetic engineers that you can see to try to help prevent Thalassemia if you are planning on having a child. There aren't any treatments for Thalassemia Minor. Benefits to Having Thalassemia One of the major benefits to having Thalassemia is that you have a very slim chance of ever getting Malaria. The body is usually able to get rid of the disease before it causes any major problems. Not always, but usually. Also, if you are diagnosed with Thalassemia Beta, you most likely won't get coronary heart disease. Personal Experiences with Thalassemia I was diagnosed with Beta Thalassemia Minor when I was born. My mom also has it along with my uncle, cousin, and grandfather. Earlier I said that only 1 in 100,00 people get it. However, as it is with all genetic diseases, if someone in your family has it, your chances of getting it are a lot higher than someone who doesn't have it in their genetic system. Citations www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001554/
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