Analyzing 5'HS3 and 5'HS4 LCR core regions and NF-E2 in Iranian thalassemia intermedia patients with normal or carrier status for beta-globin mutations.

doi:10.1016/j.bcmd.2010.12.007

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Article

Analyzing 5'HS3 and 5'HS4 LCR core regions and NF-E2 in Iranian thalassemia intermedia patients with normal or carrier status for beta-globin mutations.

Blood cells, molecules & diseases - 15 Mar 2011

Neishabury Maryam, Azarkeivan Azita, Oberkanins Christian, Abedini Seyedeh Sedigheh, Zamani Shahbaz, Najmabadi Hossein

Abstract excerpt

Our data on 114 Iranian individuals with thalassemia intermedia phenotype revealed homozygous or compound heterozygous beta-globin mutations to be the predominant disease factor in 86.2% of cases. However, 8.2% of these individuals were found to be heterozygous or wild type for beta-globin mutations. In search for determinants outside of the beta-globin gene, which could be responsible for the unexpected...

Topics

Adolescent
Adult
Child
Female
Genotype
Heterozygote
Humans
Iran
Locus Control Region
Male
Middle Aged

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

NF-E2 Transcription Factor

Phenotype

Young Adult

alpha-Globins

beta-Globins

beta-Thalassemia

Source

Open in PubMed

Identifiers

PMID: 21232998
DOI: 10.1016/j.bcmd.2010.12.007

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-21232998-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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