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Article

First Report of a Dominantly Inherited β-Thalassemia Caused by a Novel Elongated β-Globin Chain.

Hemoglobin - 1 Jan 2016

Farashi Samaneh, Rad Fariba, Shahmohammadi Bahram, Imanian Hashem, Azarkeivan Azita, Najmabadi Hossein

Abstract excerpt

A distinct set of mutations on the β-globin gene leads to dominantly inherited β-thalassemia (β-thal) that is associated with a disease phenotype in a single mutant copy. We described molecular and hematological characteristics of a novel elongated β-globin chain in combination with a known hemoglobin (Hb) variant (N-Baltimore or HBB: c.286A>G) in cis. The highly unstable Hb variant caused typical features of...

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Source

Identifiers

PMID: 26850598
DOI: 10.3109/03630269.2015.1135445

Genes

HBB

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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