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]

Overview

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

Incidence

  • 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]

Prevalence

  • 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.

Race

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

References

  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. 



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