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February 26, 2026

Difficult Cases in the Diagnosis of Thalassemia Syndromes.

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Authors

DCDuran CanatanAntalya Bilim UniversityEAEmel AltunsoyAntalya IVF

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Overview

Case series reveals diagnostic challenges in thalassemia syndromes, highlighting advanced genetic techniques' roles.

Key Points

  • The research aims to explore difficult diagnostic cases of thalassemia syndromes and the associated challenges.
  • Reviewed complex cases encountered in a clinical center.
  • Applied molecular genetic diagnostic methods including Sanger sequencing and next-generation sequencing.
  • Utilized a diagnostic algorithm involving β and α sequencing techniques.
  • Identified multiple mutations contributing to β-thalassemia and α-thalassemia syndromes.
  • Documented challenges with standard diagnostic protocols and the need for advanced methods.
  • Demonstrated the utility of whole exome and genome sequencing in resolving ambiguous cases.

Cite This Study

Canatan et al. (2026) studied this question.

synapsesocial.com/papers/699f95571bc9fecf3dab30bbhttps://doi.org/10.1080/03630269.2026.2627028
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Also Consider

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  4. 415 years of hemoglobinopathies and thalassemias: from a textbook example in biochemistry to an everyday diagnostic challenge2026
  5. 5Genetic Approach in Diagnosis and Follow-Up of Patients with Thalassemia: A Comprehensive Narrative Review2026