Post on 05-Jan-2016
transcript
Beta-ThalassemiaJack DoeringCorey 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
• 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)
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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)
• 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
Thomas Cooley
•Gene Treatment (Stuart et al, 2009)
•Sierakowska, Sambade,
Agrawal & Cole (1996)
The use of antisense
oligonucleotides as a
form of treatment
History
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 non-mutated 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.