What is Beta-thalassemia?

Beta thalassemia is a life-long disease. People with beta thalassemia have abnormal hemoglobin, which is a part of a red blood cell that carries oxygen to all areas of the body. In people with beta thalassemia, low levels of hemoglobin lead to a lack of oxygen in many parts of the body. Affected individuals also have a shortage of red blood cells (anemia), which can cause pale skin, weakness, fatigue, and more serious complications. Individuals with thalassemia often require frequent blood transfusions or hospitalization.

SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • • DATE UPDATED: 2019-06-27


Beta-thalassemia. [Internet]. Genetics Home Reference. [updated September 2015].Available from:

Indian J Hum Genet. 2014 Apr;20(2):101-19. doi: 10.4103/0971-6866.142841.Guidelines for screening, diagnosis and management of hemoglobinopathies.Ghosh K1, Colah R1, Manglani M2, Choudhry VP3, Verma I4, Madan N5, Saxena R6, Jain D7, Marwaha N8, Das R9, Mohanty D10, Choudhary R11, Agarwal S12, Ghosh M13, Ross C14

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