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April 26, 2026SHILAP Revista de lepidopterologíaOpen Access

Decoding thalassemia and sickle cell disease: advances in molecular technologies for comprehensive variant detection

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Authors

EFEmelie FoordKarolinska InstitutetDSDarius SairafiUnisys (United States)MBMonika BergUnisys (United States)

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Implication

Review discusses molecular advancements in diagnostics for thalassemia and sickle cell disease, indicating improved variant detection strategies.

Key Points

  • This review aims to summarize the genetic basis and diagnostic methodologies for thalassemia and sickle cell disease.
  • Summarizes traditional and emerging molecular testing methodologies.
  • Discusses next-generation sequencing (NGS) capabilities for variant detection.
  • Compares strengths and limitations of various diagnostic platforms.
  • Next-generation sequencing (NGS) can simultaneously detect diverse variant classes.
  • Traditional testing remains labor-intensive and has limited capacity for detecting variations.
  • The review highlights the role of genetic modifiers in influencing disease severity.

Cite This Study

Foord et al. (2026) studied this question.

synapsesocial.com/papers/69edaa9b4a46254e215b3264https://doi.org/10.3389/fgene.2026.1810737
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