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Thalassemias: An Overview.

Michael Angastiniotis1, Stephan Lobitz2

  • 1Thalassemia International Federation, Strovolos 2083, Nicosia, Cyprus.

International Journal of Neonatal Screening
|October 19, 2020
PubMed
Summary

Thalassemias are common genetic blood disorders caused by globin gene mutations. Early detection through neonatal screening, even for sickle cell disease, aids families and prevents severe complications.

Keywords:
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Area of Science:

  • Genetics
  • Hematology
  • Public Health

Background:

  • Thalassemias are serious, common genetic blood disorders caused by mutations in alpha (HBA1/HBA2) or beta (HBB) globin genes.
  • These mutations result in imbalanced globin chain production, leading to impaired red blood cell formation and anemia.
  • The geographical prevalence is shifting due to migration, impacting non-endemic regions.

Purpose of the Study:

  • To highlight the public health significance of thalassemia syndromes.
  • To discuss the challenges in managing thalassemia and its impact on quality of life.
  • To emphasize the value of detecting thalassemia in neonatal screening programs.

Main Methods:

  • Review of thalassemia pathophysiology and genetic basis.
  • Analysis of disease severity and management requirements.
  • Evaluation of current public health metrics and neonatal screening practices.

Main Results:

  • Thalassemia severity correlates with globin chain imbalance, necessitating transfusions and iron overload management.
  • Inadequate access to care leads to complications, increased costs, and poor outcomes.
  • Global Burden of Disease metrics underestimate thalassemia's impact, particularly in young children.

Conclusions:

  • Thalassemia poses a significant public health challenge requiring better recognition and management strategies.
  • Neonatal screening, even incidentally during sickle cell screening, is crucial for early intervention and family preparation.
  • Improved care access and accurate disease burden assessment are vital for addressing thalassemia globally.