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Article

Characterization of three novel delta chain hemoglobin variants and two delta-thalassemia alleles.

Hemoglobin - 1 Jan 2010

Frischknecht Hannes, Troxler Heinz, Dutly Fabrizio, Walker Lynda, Hohenadel Betty-Ann, Eng Barry, Waye John S

Abstract excerpt

We report the characterization of five novel delta-globin gene mutations detected during routine screening for thalassemia. Three missense mutations were identified, resulting in the following delta chain hemoglobin (Hb) variants: Hb A(2)-Acacias [delta4 (ACT>AGT), Thr-->Ser, HBD c.14C>G], Hb A(2)-Toronto [delta74 (GGC>GAC), Gly-->Asp, HBD c.224G>A], and Hb A(2)-Calgary [delta99 (GAT>GGT), Asp-->Gly, HBD...

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Source

Identifiers

PMID: 20642335
DOI: 10.3109/03630269.2010.500966

Genes

HBD
AGT

Variants

Provenance

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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