What is Beta Thalassemia?

Beta thalassemias are a group of inherited blood disorders characterized by the reduced production of hemoglobin, a protein component of red blood cells that carries oxygen from the lungs to the rest of the body.

What Causes Beta Thalassemia?

The most common hemoglobin in a normal adult is hemoglobin A (HbA), made up of two α-globin chains and two β-globin chains. People with β-thalassemia have defects in the HBB gene that encodes β-globin. Genetic mutations can reduce the level of β-globin production (β⁺ mutations) or completely eliminate the production of β-globin (β⁰ mutations). Reduced β-globin production means that not enough hemoglobin can be made, resulting in the diminished transport of oxygen around the body.

The severity of β-thalassemia depends on the number and type of HBB mutations that a person has inherited. We inherit two copies of the HBB gene – one from each parent. The most serious form of β-thalassemia is β-thalassemia major, where a person has two defective HBB alleles and each allele contains a β⁰ mutation, preventing the production of any β-globin. These individuals require life-long blood transfusions to provide adequate hemoglobin levels. β-thalassemia intermedia occurs in people that have also inherited two defective HBB alleles, but at least one allele carries a β⁺ mutation so some β-globin can still be produced. β-thalassemia intermedia symptoms vary from mild to severe, depending how much β-globin is able to be produced. β-thalassemia minor (or β-thalassemia trait) refers to people who have just one defective HBB allele and one normal HBB allele.

How Common is Beta Thalassemia?

Beta thalassemia is a common inherited disorder in individuals of Mediterranean, African and South Asian descent. These are regions of the world where malaria is commonly transmitted by mosquitoes. Carriers of a beta thalassemia mutation have some protection against malaria infection, hence there is a selective advantage for retaining HBB genetic mutations in areas affected by malaria. Genetic prevalence of beta thalassemia carriers according to geographical regions is:

• Eastern Mediterranean – Carriers represent 2-18% of the population
• Europe – Carrier frequency can be as high as 19%
• Western Pacific – Approximately 13% of the people are carriers
• Sub-Saharan Africa – Up to 12% of the people are carriers
• Southeast Asia – Carriers represent 11% of the population
• North America – Carrier frequency is lower, ranging from 0-3%

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Recommended Links: Origa R (2000, Updated 2015 May 14). Beta-Thalassemia. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016.

Cao A, Galanello R (2010). Beta-thalassemia. Genetics in Medicine 12, 61–76;

Muncie HL, Campbell JS (2009). Alpha and Beta Thalassemia. Am Fam Physician. 80(4): 339-344.