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
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What Are the Treatment Options?

  • Frequent blood transfusions
  • Folate supplements
  • Medical geneticist gene counseling
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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.


"Children's Health." Thalassemia. N.p., 2015. Web. 22 Mar. 2015. <>.

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. <>.

"Thalassemia." Risk Factors. Mayo Foundation for Medical Education and Research, 2015. Web. 19 Mar. 2015.