Thalassemia

Abby Koors

Overview

*Thalassemia is when your blood doesn't have the average amount of oxygen- carrying protein (Beta Protein)

* Any age can be affected

* Fewer than 200,000 cases per year (rare disease)

* Must have doctors diagnosis

* Can last for few years, or be long term

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Symptoms

* Fatigue

* Weakness

* Stunted growth

* Paleness

* Shortness of breath

* Yellowing of skin and eyes

How it's inherited

* If your body doesn't carry enough Beta protein

* Occurs when there is a mutation in the gene that codes for Alpha Globins
* Recessive trait- can only occur if a parent is a carrier of the mutated gene

* Many generations can be affected


Current Studies and Tests/ Treatments

* No cure has been discovered

* Scientists have been working on determining if the Beta protein can be inserted in the blood through certain transactions, but sadly nothing has been detected yet

* Blood transfusions can take place

* Donor stem-cell transplant

Sources

"Clinical Trials." Cooley's Anemia Foundation. The Cooley's Anemia Foundation, 7
Mar. 2016. Web. 5 Apr. 2016. <http://www.thalassemia.org/
learn-about-thalassemia/clinical-trials/>.


"Genetics of Thalassemia." Benioff Children's Hospital. Northern California
Comprehensive Thalassemia Center, 2012. Web. 5 Apr. 2016.
<http://thalassemia.com/genetics-inheritance.aspx#gsc.tab=0>.


"Thalassemia." Google Search. Mayo Clinic, 30 Mar. 2016. Web. 5 Apr. 2016.
<https://www.gstatic.com/healthricherkp/pdf/thalassemia.pdf>.