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

Hemoglobinopathies are among the most common monogenic disorders worldwide and are a significant global health problem. However, diagnosing these disorders, especially those involving complex genotypes (HBA/HBB), is challenging. This issue must be addressed, even in regions with historically low disease prevalence.

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Publication Details

Journal
DOAJ (DOAJ: Directory of Open Access Journals)
Published
2026-10-01
DOI
https://doi.org/10.1515/labmed-2026-0108
Primary Topic
Hemoglobinopathies and Related Disorders
Type
article
Field-Weighted Citation Impact
0.00
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article

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

Beck Joachim, Skevaki Chrysanthi, Häuser Friederike, Rossmann Heidi et al.
DOAJ (DOAJ: Directory of Open Access Journals)
Hemoglobinopathies and Related Disorders
article

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

Beck Joachim, Skevaki Chrysanthi, Häuser Friederike, Rossmann Heidi, Faber Jörg, Mildenberger Eva, Beck Olaf
article en

Abstract

Hemoglobinopathies are among the most common monogenic disorders worldwide and are a significant global health problem. However, diagnosing these disorders, especially those involving complex genotypes (HBA/HBB), is challenging. This issue must be addressed, even in regions with historically low disease prevalence.

DOAJ (DOAJ: Directory of Open Access Journals)
Openalex Percentile: Top 17%
Hemoglobinopathies and Related Disorders
DOISourceOpenAlex
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15 years of hemoglobinopathies and thalassemias: from a textbook example in biochemistry to an everyday diagnostic challenge — Beck Joachim, Skevaki Chrysanthi, et al. · DOAJ (DOAJ: Directory of Open Access Journals) (2026) | TGRS Research Map | TGRS