Association of an α-globin gene cluster duplication and heterozygous β-thalassemia in a patient with a severe thalassemia syndrome.

doi:10.3109/03630269.2015.1012678

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Article

Association of an α-globin gene cluster duplication and heterozygous β-thalassemia in a patient with a severe thalassemia syndrome.

Hemoglobin - 1 Jan 2015

Jiang Hua, Liu Sha, Zhang Yong-Ling, Wan Jun-Hui, Li Ru, Li Dong-Zhi

Abstract excerpt

We describe a new case of a β-thalassemia (β-thal) heterozygote with the mutation IVS-II-654 (C>T) presenting with a transfusion-dependent phenotype. Multiplex ligation-dependent probe amplification (MLPA) and array comparative genomic hybridization (CGH) analyses of the α-globin gene cluster revealed a full duplication of the α-globin genes including the upstream regulatory element. The duplicated allele and the...

Topics

Child
Chromosomes, Human, Pair 16
Comparative Genomic Hybridization
DNA Copy Number Variations
Erythrocyte Indices
Female
Gene Duplication
Heterozygote
Humans
Introns
Multigene Family

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Severity of Illness Index

Syndrome

Thalassemia

alpha-Globins

beta-Globins

beta-Thalassemia

Source

Open in PubMed

Identifiers

PMID: 25690803
DOI: 10.3109/03630269.2015.1012678

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-25690803-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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