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Article

CODON 30 (-GAG) (α2): hematological parameters in heterozygotes and also patients with Hb H disease.

Hemoglobin - 1 Jan 2013

Yang Yu, Li Dong-Zhi

Abstract excerpt

We describe five Chinese individuals carrying a codon 30 (-GAG) (α2) (HBA2: c.91_93del) mutation, including three heterozygotes and two patients with Hb H (β4) disease. The heterozygotes presented hematological parameters of microcytosis and hypochromia. The Hb H disease patients were transfusion-independent and had survived to adulthood. Screening for this nondeletional allele, and correlation of genotype with...

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Source

Identifiers

PMID: 23822871
DOI: 10.3109/03630269.2013.812561

Genes

HBA2

Variants

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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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