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February 26, 2026Thalassemia ReportsOpen Access

Cascade Screening of β-Thalassemia in an Indian Family Using Flow Injection Analysis–Triple Quadrupole Mass Spectrometry: Comparison of Micro Sampling Approaches with Conventional Electrophoresis

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Authors

APAnkitha K. PuthiyaveettilDirectorate of Medicinal and Aromatic Plants ResearchHMHarshini K. MusuvathiManipal Academy of Higher EducationDPDeepalakshmi D. PutchenDirectorate of Medicinal and Aromatic Plants Research

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Implication

This analysis demonstrates effective early detection of β-thalassemia in a family using innovative sampling methods, suggesting improved screening strategies.

Key Points

  • To evaluate the effectiveness of flow injection analysis and mass spectrometry for screening β-thalassemia carriers in a family.
  • Collected capillary blood via dried blood spots (DBS) and dried blood matrix (DBM) from family members.
  • Analyzed globin chains using triple quadrupole mass spectrometry (TQMS).
  • Confirmed findings with complete blood count (CBC) and capillary electrophoresis (CE).
  • Detected β-thalassemia in seven individuals from a three-generation family, indicating a prevalence of 20.6%.
  • CBC showed thalassemia indices consistent with findings.
  • Achieved 100% sensitivity for DBS and 100% specificity for DBM, with an overall accuracy of 91% compared to CE.

Cite This Study

Puthiyaveettil et al. (2026) studied this question.

synapsesocial.com/papers/699fe34695ddcd3a253e7076https://doi.org/10.3390/thalassrep16010003
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