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Article

Increased gamma-globin gene expression in beta-thalassemia intermedia patients correlates with a mutation in 3'HS1.

American journal of hematology - 1 Nov 2007

Papachatzopoulou Adamantia, Kaimakis Polynikis, Pourfarzad Farzin, Menounos Panagiotis G, Evangelakou Panagiota, Kollia Panagoula, Grosveld Frank G, Patrinos George P

Abstract excerpt

We report a novel set of genetic markers in the DNaseI hypersensitive sites comprising the human beta-globin locus chromatin hub (CH), namely HS-111 and 3'HS1. The HS-111 (-21 G>A) and 3'HS1 (+179 C>T) transitions form CH haplotypes, which occur at different frequencies in beta-thalassemia intermedia and major patients and normal (nonthalassemic) individuals. We also show that the 3'HS1 (+179 C>T) variation...

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Identifiers

PMID: 17654503
DOI: 10.1002/ajh.20979

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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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Increased gamma-globin gene expression in beta-thalassemia intermedia patients correlates with a mutation in 3'HS1.PMID 17654503Read ↗

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