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.