Beta-thalassemia risk factors

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

Overview

In General, Positive family history and specific ethnicities are the major risk factors for beta-thalassemia. On the other hand, Lack of awareness and education about the screening for beta-thalassemia, limited resources for screening programs and the consanguineous marriages are contributing factors for increasing the risk of beta-thalassemia.

Risk Factors

Positive family history and certain ethnicities are factors that increase the risk of beta thalassemia. Depending on family history, if a person's parents or grandparents had beta thalassemia major or intermedia, there is a 75% (3 out of 4) probability of the mutated gene being inherited by an offspring. Even if a child does not have beta thalassemia major or intermedia, they can still be a carrier, possibly resulting in future generations of their offspring having beta thalassemia. Another risk factor is ethnicity. Beta thalassemia occurs most often in people of Italian, Greek, Middle Eastern, Southern Asian, and African ancestry[1].

Risk Factors in areas with high beta-thalassemia prevalence:

  • Lack of awareness and education about the screening for beta-thalassemia[2].
  • Limited resources for screening programs[2].
  • Cultural and societal norms encouraging consanguineous marriage[3].
  • Consanguineous marriage in areas with a high prevalence of the disease[3].

References

  1. Taher AT, Musallam KM, Cappellini MD (February 2021). "β-Thalassemias". N Engl J Med. 384 (8): 727–743. doi:10.1056/NEJMra2021838. PMID 33626255 Check |pmid= value (help).
  2. 2.0 2.1 Baig SM, Din MA, Hassan H, Azhar A, Baig JM, Aslam M, Anjum I, Farooq M, Hussain MS, Rasool M, Nawaz S, Qureshi JA, Zaman T (2008). "Prevention of beta-thalassemia in a large Pakistani family through cascade testing". Community Genet. 11 (1): 68–70. doi:10.1159/000111641. PMID 18196920.
  3. 3.0 3.1 Ul Hassan Rashid MA, Abbasi SS, Manzoor MM (December 2020). "Socio-religious Prognosticators of Psychosocial Burden of Beta Thalassemia Major". J Relig Health. 59 (6): 2866–2881. doi:10.1007/s10943-020-01069-6. PMC 7372744 Check |pmc= value (help). PMID 32696428 Check |pmid= value (help).


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