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A Woman with Missing Hb A2 Due to a Novel (εγ)δβ0-Thalassemia and a Novel δ-Globin Variant Hb A2-Gebenstorf (HBD: c.209G>A).

Hemoglobin - 1 May 2020

Saller Elisabeth, Knijnenburg Jeroen, Harteveld Cornelis L, Dutly Fabrizio

Abstract excerpt

A woman completely lacking Hb A2 on the high performance liquid chromatography (HPLC) analysis, presented with a novel deletional (εγ)δβ0-thal and a δ-globin gene variant. This combination causes a β-thalassemia (β-thal) minor phenotype. The woman was referred by a hematologist due to abnormal blood counts. Multiplex ligation-dependent probe amplification (MLPA) and microarray analysis showed a heterozygous,...

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PMID: 32605393
DOI: 10.1080/03630269.2020.1779739

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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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