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Description of Hb Évora (HBA2: c.106T>C) on an Unexpected Allele in a Swiss Family.

Hemoglobin - 1 Sept 2021

Truttmann Rahel, Schmidt Adrian, Hartmann Britta, Rusch Sebastian, Mendez Adriana

Abstract excerpt

α-Thalassemia (α-thal) is caused by DNA deletions or point mutations in the genes coding for the α-globin chains and can lead to hemolytic anemia in its carriers. If only one of the four α genes is affected, the mutation is mostly discovered by chance, as the carriers are asymptomatic. Hb Évora (HBA2: c.106T>C) is an Hb variant that leads to such an α-thal trait (αTα/αα) and thus, to mild microcytic hypochromic...

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Identifiers

PMID: 35114882
DOI: 10.1080/03630269.2022.2034643

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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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