1 / 11

Beta-Thalassemia

Beta-Thalassemia. Jack Doering Corey Allen. http://www.hemaquest.com/indications/hemoglobin.asp. http://pathologyproject.files.wordpress.com/2012/02/thalasseimc.jpg. Cause. Mutation of the HBB gene Beta-Thalassemia is an Autosomal recessive disorder

selena
Download Presentation

Beta-Thalassemia

An Image/Link below is provided (as is) to download presentation Download Policy: Content on the Website is provided to you AS IS for your information and personal use and may not be sold / licensed / shared on other websites without getting consent from its author. Content is provided to you AS IS for your information and personal use only. Download presentation by click this link. While downloading, if for some reason you are not able to download a presentation, the publisher may have deleted the file from their server. During download, if you can't get a presentation, the file might be deleted by the publisher.

E N D

Presentation Transcript


  1. Beta-Thalassemia • Jack Doering • Corey Allen http://www.hemaquest.com/indications/hemoglobin.asp http://pathologyproject.files.wordpress.com/2012/02/thalasseimc.jpg

  2. Cause • 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

  3. Cause http://www.nhlbi.nih.gov/health/health-topics/topics/thalassemia/causes.html

  4. 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) • Beta subunits are not as effective or completely absent in the hemoglobin • Hemoglobin does not function leading to Anemia http://www.nobelprize.org/nobel_prizes/medicine/laureates/1993/press.html

  5. History Thomas Cooley • Gene Treatment (Stuart et al, 2009) • Sierakowska, Sambade, 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

  6. 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

  7. 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)

  8. 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

  9. 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)

  10. Research • Gene Treatment • Lentiviral vectors to transport a non-mutated Beta-Globin gene • Still needs improvement (Rivella et al., 2002) Rivella et al., 2002

  11. 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.ISBN978-1-4160-3430-8.

More Related