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Article

Introduction of novel α1-hemoglobin gene mutation with transfusion-dependent phenotype.

Hematology (Amsterdam, Netherlands) - 1 Apr 2017

Zekavat Omid Reza, Dehghani Seyed Javad, Imanifard Jaber, Dehbozorgian Javad, Zareifar Soheila, Haghpanah Sezaneh

Abstract excerpt

OBJECTIVE AND IMPORTANCE: Thalassemia is the most frequently monogenetic disorders around the world that is inherited as a recessive single-gene disease, resulting from mutations in α- or β-globin gene clusters. The aim of this report was to present a new insertional mutation in the α1 globin gene which causes transfusion-dependent anemia in α-thalassemic patients. CLINICAL PRESENTATION: Two 5-year-old girls with...

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Identifiers

PMID: 27665672
DOI: 10.1080/10245332.2016.1235672

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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