What question did this study set out to answer?

To evaluate the diagnostic challenges and utility of integrating functional laboratory methods with molecular genetic testing for hemoglobinopathies and thalassemias.

August 16, 2026LaboratoriumsMedizinOpen Access

15 years of hemoglobinopathies and thalassemias: from a textbook example in biochemistry to an everyday diagnostic challenge

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Authors

FHFriederike Häuser JBJoachim Beck EMEva Mildenberger

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Overview

Diagnostic cohort study demonstrates high rates of complex globin defects in evaluated patients, highlighting the necessity of combining functional testing with molecular genetic analysis.

Key Points

To evaluate the diagnostic challenges and utility of integrating functional laboratory methods with molecular genetic testing for hemoglobinopathies and thalassemias.
Evaluated 565 patients tested between 2010 and 2025 using complete blood counts, clinical chemistry parameters, and hemoglobin high-performance liquid chromatography (HPLC).
Performed molecular genetic analyses using Sanger sequencing and multiplex ligation-dependent probe amplification (MLPA) to detect pathogenic variants across the HBA and HBB gene clusters.
Pathogenic variants were identified in 374 of 565 patients (66.2%).
Combined disorders involving qualitative and quantitative globin defects or concurrent HBA and HBB gene cluster mutations were present in 88 patients (15.6%).

Cite This Study

Häuser et al. (2026) studied this question.

synapsesocial.com/papers/6a8179eff2fb91fc834ad761 https://doi.org/10.1515/labmed-2026-0108

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August 16, 2026LaboratoriumsMedizinOpen Access

15 years of hemoglobinopathies and thalassemias: from a textbook example in biochemistry to an everyday diagnostic challenge

View Full Paper

Ask AI

Bookmark

Authors

FHFriederike Häuser JBJoachim Beck EMEva Mildenberger

Discussion

Member takes

Overview

Diagnostic cohort study demonstrates high rates of complex globin defects in evaluated patients, highlighting the necessity of combining functional testing with molecular genetic analysis.

Key Points

To evaluate the diagnostic challenges and utility of integrating functional laboratory methods with molecular genetic testing for hemoglobinopathies and thalassemias.
Evaluated 565 patients tested between 2010 and 2025 using complete blood counts, clinical chemistry parameters, and hemoglobin high-performance liquid chromatography (HPLC).
Performed molecular genetic analyses using Sanger sequencing and multiplex ligation-dependent probe amplification (MLPA) to detect pathogenic variants across the HBA and HBB gene clusters.
Pathogenic variants were identified in 374 of 565 patients (66.2%).
Combined disorders involving qualitative and quantitative globin defects or concurrent HBA and HBB gene cluster mutations were present in 88 patients (15.6%).

Cite This Study

Häuser et al. (2026) studied this question.

synapsesocial.com/papers/6a8179eff2fb91fc834ad761 https://doi.org/10.1515/labmed-2026-0108

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