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Heterozygosity for the Novel HBA2: c.91_92delTA Polyadenylation Site Variant on the α2-Globin Gene Expanding the Genetic Spectrum of α-Thalassemia in Iran.

Hemoglobin - 1 Nov 2020

Forouzesh Pour Fatemeh, Karimi Keyvan, Ghaderi Zhila, Tavakoli Koudehi Ameneh, Najmabadi Hossein

Abstract excerpt

There are four copy numbers of α-globin genes (16p13.3) in the human genome and the number of defective α-globin genes dictates the severity of α-thalassemia (α-thal). Mutations that occur in the 3' untranslated region (3'UTR), and especially at the polyadenylation (polyA) sites, affect the translation, stability and export of mRNA. A patient with hypochromic microcytic anemia was referred to the...

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Identifiers

PMID: 33054440
DOI: 10.1080/03630269.2020.1831529

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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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