Thalassemia primary prevention

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


Overview

Primary prevention for thalassemia focuses on education and genetic counseling. These measures can help to prevent the birth of patients with thalassemia. Primary prevention strategies are currently employed in various countries.

Primary Prevention

There are a few key features of primary prevention for thalassemia. Primary prevention takes into account that thalassemia is a monogenic disorder, so environmental or behavioral strategies do not play a major role. Genetic counseling can be done for patients who are at risk, as this could help prevent the birth of babies who are homozygous for the thalassemia mutations. Pilot programs were developed in the 1970s to take measures to help prevent thalassemia.[1] These programs were designed for at-risk populations, especially persons of Mediterranean descent including the Cyprus, Sardinia, and Delta Po region of continental Italy. The programs are also available in countries with slightly lower risk of thalassemia prevalence like Greece, Iran, France, Singapore, Hong Kong, Australia.

  • Education: Education about thalassemia is a mainstay of prevention programs.
    • Education of healthcare providers: Intensive educational endeavors are directed towards healthcare professionals in the Mediterranean countries.[1] Education is provided in the form of regularly scheduled meetings amongst physicians (primary care provides, pediatricians, obstetricians), nurses, social workers, and other healthcare team members.
    • Education of large-scale population: This is achieved via distribution of information booklets, use of social media, and printing of posters. These materials are typically placed in strategic sites where patients are most likely to read them, including family planning clinics, counseling rooms, and marriage registries.
  • Genetic counseling: Genetic counseling is a key component of prevention programs for thalassemia. By providing information about a patient's risk for thalassemia, appropriate decisions can be made with regards to family planning. This is especially important who patient who are heterozygous for globin gene mutations, since mating with another heterozygote can result in the birth of a baby with a significant disease burden.[2]

References

  1. 1.0 1.1 Cao A, Kan YW (2013). "The prevention of thalassemia.". Cold Spring Harb Perspect Med. 3 (2): a011775. PMC 3552345Freely accessible. PMID 23378598. doi:10.1101/cshperspect.a011775. 
  2. Munkongdee T, Vattanaviboon P, Thummarati P, Sewamart P, Winichagoon P, Fucharoen S; et al. (2010). "Rapid diagnosis of alpha-thalassemia by melting curve analysis.". J Mol Diagn. 12 (3): 354–8. PMC 2860472Freely accessible. PMID 20190015. doi:10.2353/jmoldx.2010.090136. 



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