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Beta-Thalassemia Jack Doering Corey Allen http://www.hemaquest.com/indications/hemoglobin.asp http://pathologyproject.files.wordpress.com/2012/02/thalasseimc.jpg • • • • Mutation of the HBB gene Beta-Thalassemia is an Autosomal recessive disorder Homozygous recessive and heterozygous cause a differing presence of symptoms and account for the differentiation between B-T Intermedia and B-T Major (NIH, 2011) http://www.ornl.gov/sci/techresources/Human_Genome/posters/chromosome/hbb.shtml Cause Cause http://www.nhlbi.nih.gov/health/health-topics/topics/thalassemia/causes.html Cause • Boundaries between intronic and extronic DNA are not found or fabricated due to splice junction nucleotide mutations (Be it a change of the 5’ splice site or the 3’) (Roberts & Phillip, 1993) http://www.nobelprize.org/nobel_prizes/medicine/laureates/1993/press.html • • Beta subunits are not as effective or completely absent in the hemoglobin Hemoglobin does not function leading to Anemia History Thomas Cooley • Gene Treatment • Sierakowska, Sambade, (Stuart et al, 2009) Agrawal & Cole (1996) The use of antisense oligonucleotides as a form of treatment http://upload.wikimedia.org/wikipedia/commons/4/4c/Thomas_Benton_Cooley.jpg Diagnostics • • • Swollen Spleen and abnormal blood cells Complete blood count • Those with any form of B-T will show a significantly low Red Blood Cell Count Hemoglobin Electrophoresis (NIH, 2011) http://www.pathologystudent.com/?attachment_id=1235 Diagnosis • Common Worldwide: 100,000 infants affected per year • Less common in U.S.: 750-1000 infants at any given time • Those with Intermedia Beta-Thalassemia have normal life expectancies • Major Beta-Thalassemia lessens life expectancies to around 30 • ( Arthur, 2006; NIH, 2011) Symptoms • Life-threatening Anemia • Jaundice • Enlarged organs • Misshapen bones • Marrow “cracks” • Generally Smaller • (NIH, 2011) http://www.unc.edu/courses/2007spring/nurs/842/001/Week%205/Thalessemia.html Treatment • Blood transfusions • Iron chelation therapy • Removing Excess Iron present in transfused blood • Bone Marrow transplant • A counter-measure in order to decrease the hyperactivity of the Bone Marrow (Laith et al., 2005) Research • Gene Treatment • Lentiviral vectors to transport a nonmutated Beta-Globin gene • Still needs improvement (Rivella et al., 2002) Rivella et al., 2002 Citations • • • • • Arthur, S. (2006, December 4). emedtv. Retrieved from http://blood.emedtv.com/beta-thalassemia/beta-thalassemia-statistics.html Laith F. Gulli MD, Tanya Bivens, BS Thomson Gale, Gale.(2005) Healthline Gale Encyclopedia of Genetic Disorders Part II Retrieved from http://www.healthline.com/galecontent/beta-thalassemia-1#1 NIH. (2011, November 11). Genetics home reference. Retrieved from http://ghr.nlm.nih.gov/condition/beta-thalassemia Roberts, R., & Phillip , S. (1993, October 11). Nobel prize. Retrieved from http://www.nobelprize.org/nobel_prizes/medicine/laureates/1993/press.html Stuart H. Orkin, David G. Nathan, David Ginsburg, A. Thomas Look (2009). Nathan and Oski's Hematology of Infancy and Childhood, Volume 1. Elsevier Health Sciences. pp. 1054–1055.ISBN 978-1-4160-3430-8.