Decoding thalassemia and sickle cell disease: advances in molecular technologies for comprehensive variant detection
Emelie Foord1,2, Darius Sairafi2, Monika Berg2
1Department of Medicine, Karolinska Institutet, Huddinge, Sweden.
Frontiers in Genetics
|May 8, 2026
Summary
Next-generation sequencing (NGS) offers a comprehensive approach to diagnosing inherited blood disorders like thalassemia and sickle cell disease. This advanced method overcomes limitations of traditional testing by simultaneously detecting various genetic variations for improved hemoglobinopathy screening.
Area of Science:
- Genetics
- Molecular Biology
- Hematology
Background:
- Thalassemia and sickle cell disease are significant global health issues caused by inherited globin gene variants.
- Genetic heterogeneity and complex genotype-phenotype correlations present diagnostic challenges.
- Current diagnostic workflows often involve sequential, labor-intensive molecular analyses.
Purpose of the Study:
- To review the genetic basis of hemoglobinopathies.
- To compare traditional and emerging molecular testing methods.
- To evaluate the utility of next-generation sequencing (NGS) in hemoglobinopathy diagnostics.
Main Methods:
- Literature review of genetic hemoglobinopathies.
- Analysis of conventional hematologic, biochemical, and DNA-based testing.
- Evaluation of next-generation sequencing (NGS) platforms for variant detection.
Main Results:
- NGS platforms enable simultaneous detection of diverse variant classes (sequence, copy number alterations) across multiple genes.
- NGS supports comprehensive screening and diagnostic follow-up for hemoglobinopathies.
- NGS can identify genetic modifiers influencing disease severity.
Conclusions:
- NGS represents a significant advancement over traditional methods for hemoglobinopathy diagnostics.
- NGS platforms offer integrated and comprehensive strategies for screening and diagnosis.
- NGS is poised to reshape future workflows for inherited blood disorder testing.
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