Beta Thalassemia

Approximately 68,000 children are born with various thalassemia syndromes each year. β-thalassemia is highly prevalent, with 80 to 90 million people reported to be carriers across the world (1.5% of the global population)1

Thalassemia is an inherited blood disorder caused when the body doesn’t make enough of an important part of red blood cells called hemoglobin. The function of red blood cells is to carry oxygen to all the cells of the body. When there isn’t enough hemoglobin, the red blood cells don’t function properly and they live for shorter periods of time. Because of this there is also not enough oxygen delivered to all the other cells of the body. This may cause a person to feel tired, short of breath or weak. This condition is called anemia.

There are two types of Thalassemia based on which part of the protein got affected. If the Beta part of the hemoglobin is not made then it is called Beta thalassemia.

When should you get tested?

  • Individuals belonging to populations with a higher prevalence of the disease, such as individuals of Mediterranean, Middle Eastern, Southeast Asian, and African descent.
  • If there is a known family history of beta thalassemia
  • Individuals or couples who are planning to have children, especially if they belong to high-risk ethnic groups or have a family history of beta thalassemia.
  • Individuals presenting with symptoms such as anemia, fatigue, pale skin, bone deformities, or other related complications.
  • Beta thalassemia carrier screening is often offered as part of population screening programs or to individuals considering marriage or starting a family.

Test specifications

Technique Variant types TAT Sample requirements
Sanger sequencing Mutation 3 - 4 weeks 2 ml EDTA Blood / 2 ug DNA


  1. Origa, Raffaella. "β-Thalassemia." Genetics in Medicine 19.6 (2017): 609-619.
Write Your Own Review
You're reviewing:Beta Thalassemia