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First report of a patient with homozygous hemoglobin Ernz: Evidence to support a non-pathogenic variant.

Blood cells, molecules & diseases - 1 Jan 2024

Shojaei Zohreh, Abiri Maryam, Zafarghandi Motlagh Fatemeh, Amini Masoume, Dabbagh Bagheri Samira, Asnavandi Sadaf, Asadi Sedighe, Bagherian Hamideh, Zeinali Sirous

Abstract excerpt

Hemoglobin Ernz (Hb Ernz) is a missense variant in β-globin caused by a Threonine to Asparagine substitution at the 123rd amino acid position and HBB c.371C > A in gene level. Hb Ernz has been classified as Uncertain Significance (VUS) by ACMG due to limited reports and the absence of any homozygote genotypes. In our study, we found eight cases of Hb Ernz by DNA sequencing of the β-globin gene during >20 years of...

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Identifiers

PMID: 37826942
DOI: 10.1016/j.bcmd.2023.102797

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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