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Created with Fabric.js 1.4.5 Beta Thalassemia Zakia Naeem SBI3U0 What is Beta thalassemia? Beta thalassemia minor Beta thalassemia major(Cooley's anemia) Beta thalassemia intermedia one beta globin genemutated, with one perfectbeta globin gene recessive inheritance (heterozygous) mild anemia slight change inhemoglobin levels, or else normal no treatment necessary both of the beta globin genes are mutateddominant inheritance (homozygous)Since no production of beta- chains, no hemoglobin, no oxygen being transported, thus regular blood transfusions needed if overload of iron-containing hemoglobin, will result in liver, heart and hormone problems both of the beta globin genes are mutated but isnt as severe as majorsometimes will require regular blood transfusions chances of moderate-high anemia Did you know? At birth a baby will seem healthy until its first 2 years where it can derive the symptoms of beta thalassemia major, based ongenetics between the parents.How come? Hemoglobin at birth hasnt technically existed yet, instead its known as fetal hemoglobin(HbF). Regular hemoglobin is made out of two alpha and two beta globin chains. In HbF there is 2 alpha chains and 2 gamma chains(not beta chains). So even if the beta chains are mutated in thalassemia major it will not appear right away and therefore the baby is protected. However, in the first few months after birth the baby will start to develop anemia. Slowly, the child will fail to grow at a normal rate, have problems during feeding due to lack of energy because less oxygen. Fever,diarrhea and intestinal problems may also occur. Without hemoglobin , oxygen cannot be delivered and the red blood cells will become paler. Oxygenated rich blood isdelivered to the rest of the body and different organs from the lungs, in this case since the alpha globin has no beta globinto bind with, it instead bonds with fetal hemoglobin, from birth. This slowly allows for oxygen transportation acting as an alternative, but still isnt enough to keep the person breathing(this is why the patient feels fatigue.) The extra alpha globins attach to the cell membranes inside the cell. When this happens the alpha chains tell the cells to kill themselves. Thiskills 95% of the red blood cells effecting the circulatory system.(DNA Learning Centre) This whole process effects the respiratory and circulatory system but as well as the lymphatic system and skeletal system. In the lymphatic there is an organcalled spleen. The spleen is responsible for secreting damaged cells or other foreign substances, it helps fight off infections. But since there is a lot of red blood cells dieing and not working properly the spleen has to work harder, and therefore gets bigger and sometimes has to be removed. In the skeletal system since the body is trying to compensate for the amount of red blood cells being made and damaged, the size of the bone marrow grows and bones poke out. Beta thalassemia is a blood disorder in which the blood cells lack hemoglobin.Hemoglobin is found in erythrocytes and is an iron containing protein that carries oxygen throughout the body.It also gives blood that red colour. Since the red blood cells lack hemoglobin production, there will be less oxygen transportation. There are 3 types... What systems does it effect? Gene therapy for blood disorder a 'success'! Gene therapy has been used since the 1990s for a variety of disorders,infections and diseases and sometimes has positive outcomes and sometimes negative.In 1999, an 18 year old from the U.S volunteers for the gene therapy and died after the treatment.(BBC News) Gene therapy for the first time, for beta thalassemia major was delivered in 2007. It was an 18 year old man who had severe beta thalassemia major and struggled since the age of 3with blood transfusions.(BBC News) Blood transfusions is another way for patients with beta thalassemia to restore hemoglobin, but is required regularly to avoid symptoms and complications such as life threatening anemia, delayed growth rate, paleness in the skin, jaundice (yellowness of the eyes),enlarged spleen, liver,heart and bones, infections and excess iron. During this process, blood stem cells were taken from his bone marrow and mixed with a retrovirus to diffusea perfect beta-globin gene. From there the modified stem cells were replaced back into his body through chemotherapy. Healthy blood cells started to arise and seven years after the successful treatment he had no need for bloodtransfusions, said doctors. The team, led by Philippe Leboulch, of Harvard Medical School in Boston, said:"At present, approximately three years post-transplantation, the biological and clinical evolution is remarkable andthe patient's quality of life is good."(BBC News) Although doctors predict the patient could develop leukemia as a side effect of the therapy. The Genetics behind Beta Thalassemia? Beta thalassemia can only be inherited.It is more common in people from Mediterranean,African, middle eastern, east Indian, and south Asian descent Since it is based on genetics there is a 1 out of 4 chance of the child having normal hemoglobin.There is a genetic defect in the HBB gene that encodes for beta globin. In thalassemia major both the HBB genes have been mutated (as well as in thalassemia intermedia) but in thalassemia minor only one gene is mutated. Since the HBB gene is mutated and theres no beta globin being made, there will be no hemoglobin, as alpha and beta globins are what make up hemoglobin There is also a genetic defect in chromosome 11because beta globin is made on this chromosome, along with alpha globin and the other proteins that make up hemoglobin. So in thalassemia minor when one of the genes that is mutated tells chromosome 11 to produce beta globin, less beta globin ismade. On the other hand in thalassemia major both the mutated genes would tell chromosome 11 to produce beta globin, and it certainly wouldnt be produced. This effects the level of hemoglobin and causes a decrease in red blood cells and thetransportation of oxygen. Organizations that support beta thalassemia Click on this link to watch a short video on gene therapy and beta thalassemia:
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