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Article

A novel splice acceptor site mutation of the alpha2-globin gene causing alpha-thalassemia.

Hemoglobin - 1 Aug 2001

Noguera N I, González F A, Dávoli R A, Milani A C, Villegas A

Abstract excerpt

A novel nondeletional alpha-thalassemia mutation that affects RNA processing, changing the alpha2 IVS-II-142 splice acceptor consensus sequence from AG to AA, has been detected in an Argentinian patient with Hb H disease and her daughter.

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Identifiers

PMID: 11570724
DOI: 10.1081/hem-100105224

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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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