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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
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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
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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
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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
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Swollen Spleen and abnormal blood cells
Complete blood count
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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
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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.