Thalassemia epidemiology and demographics

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Shyam Patel [2]


Overall, thalassemia is a rare condition with a low incidence and prevalence in the United States. However, non-US countries have a higher incidence and prevalence. These include countries of the Mediterranean basis and Southeast Asia. The exact incidence and prevalence are unknown, but various estimates have been reported.

Epidemiology and Demographics


  • The incidence of thalassemia is about 300,000 to 400,000 per year.[1] [2]
  • The incidence of beta-thalassemia is 42,000 per year.[3]


  • Worldwide, the prevalence of thalassemia 3000 per 100000.[4]
  • The estimated prevalence of thalassemia worldwide is 300,000,000[5]
  • The estimated prevalence of thalassemias is 16% in people from Cyprus, 3-14% in Thailand, and 3-8% in populations from India, Pakistan, Bangladesh, Malaysia and China. There are also prevalences in descendants of people from Latin America, and Mediterranean countries (e.g. Spain, Portugal, Italy, Greece and others). A very low prevalence has been reported from people in Africa (0.9%), with those in northern Africa having the highest prevalence, and northern Europe (0.1%). Thalassemia is the most common monogenic disease in Iran.
  • The carrier rate of beta-thalassemia in Cyprus is estimated to be 12,000 to 15,000 per 100,000 persons.[6]
    • The carrier rate of beta-thalassemia in Greece is estimated to be 7,400 per 100,000 persons.[6]
  • The carrier rate of beta-thalassemia in Turkey is estimated to be 600 to 13,000 per 100,000 persons.[6]
    • In Turkey, approximately 1.6 million people (of 80 million) have thalassemia trait.
    • In Turkey, approximately 5,500 people are homozygous for thalassemia.


Thalassemia affects men and women equally, since this is a disease with autosomal recessive, not sex-linked, inheritance.


  1. Higgs DR (2013). "The molecular basis of α-thalassemia.". Cold Spring Harb Perspect Med. 3 (1): a011718. PMC 3530043Freely accessible. PMID 23284078. doi:10.1101/cshperspect.a011718. 
  2. Negre O, Eggimann AV, Beuzard Y, Ribeil JA, Bourget P, Borwornpinyo S; et al. (2016). "Gene Therapy of the β-Hemoglobinopathies by Lentiviral Transfer of the β(A(T87Q))-Globin Gene.". Hum Gene Ther. 27 (2): 148–65. PMC 4779296Freely accessible. PMID 26886832. doi:10.1089/hum.2016.007. 
  3. Liaska A, Petrou P, Georgakopoulos CD, Diamanti R, Papaconstantinou D, Kanakis MG; et al. (2016). "β-Thalassemia and ocular implications: a systematic review.". BMC Ophthalmol. 16: 102. PMC 4938965Freely accessible. PMID 27390837. doi:10.1186/s12886-016-0285-2. 
  4. Waheed F, Fisher C, Awofeso A, Stanley D (2016). "Carrier screening for beta-thalassemia in the Maldives: perceptions of parents of affected children who did not take part in screening and its consequences.". J Community Genet. 7 (3): 243–53. PMC 4960032Freely accessible. PMID 27393346. doi:10.1007/s12687-016-0273-5. 
  5. Adib-Hajbaghery M, Ahmadi M, S P (2015). "Health Related Quality of Life, Depression, Anxiety and Stress in Patients with Beta-Thalassemia Major.". Iran J Ped Hematol Oncol. 5 (4): 193–205. PMC 4779154Freely accessible. PMID 26985352. 
  6. 6.0 6.1 6.2 De Sanctis V, Kattamis C, Canatan D, Soliman AT, Elsedfy H, Karimi M; et al. (2017). "β-Thalassemia Distribution in the Old World: an Ancient Disease Seen from a Historical Standpoint.". Mediterr J Hematol Infect Dis. 9 (1): e2017018. PMC 5333734Freely accessible. PMID 28293406. doi:10.4084/MJHID.2017.018.