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Article

Advances in technologies for screening and diagnosis of hemoglobinopathies.

Biomarkers in medicine - 1 Jan 2014

Traeger-Synodinos Jan, Harteveld Cornelis L

Abstract excerpt

Hemoglobinopathies constitute the most common monogenic disorders worldwide, caused by mutations in the globin genes that synthesize the globin chains of hemoglobin. Synthesis may be reduced (thalassemia) or underlie abnormal hemoglobins. Mutation interactions produce a wide range of disorders. For neonatal and antenatal screening, identification of affected newborns or carriers is achieved by hematological...

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Identifiers

PMID: 24325233
DOI: 10.2217/bmm.13.103

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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