Thalassemia
What it is and How to Get Help
What is Thalassemia?
- The body has less hemoglobin and red blood cells than normal.
- Affects the way the body makes hemoglobin
- HBB gene on the 11th Chromosome is mutated
- Autosoamal Recessive
What Are the Causes of this Disorder?
- A mutation on the HBB gene on the 11th chromosome
- Deletion that causes the hemoglobin genes to malfunction and cause problems
- This is an autosomal recessive disorder so it is inherited.
What Are the Symptoms?
- Fatigue
- Anemia
- Shortness of breath
- Iron overload
- Pallor
- Failure to thrive
- Bone deformities
- Yellow skin and eyes
How is This Disorder Diagnosed?
- A doctor will do a physical exam to look for an enlarged spleen.
- A blood sample will be tested
What Are the Treatment Options?
- Frequent blood transfusions
- Folate supplements
- Medical geneticist gene counseling
Who Has This Disorder?
- This disorder is rare in America.
- 20,000 to 200,000 US cases per year
- People of Italian, Greek, Middle Eastern, Asian and African ancestry are more likely to have this disorder .
- This area was high in Malaria and Thalassemia cut down in the disease, but caused other issues.
Sources
"Children's Health." Thalassemia. N.p., 2015. Web. 22 Mar. 2015. <http://www.healthofchildren.com/T/Thalassemia.html>.
Gersten, Todd. "Thalassemia: MedlinePlus Medical Encyclopedia." U.S National Library of Medicine. U.S. National Library of Medicine, 16 Mar. 2015. Web. 21 Mar. 2015. <http://www.nlm.nih.gov/medlineplus/ency/article/000587.htm>.
"Thalassemia." Risk Factors. Mayo Foundation for Medical Education and Research, 2015. Web. 19 Mar. 2015.