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Article

Asymptomatic and mild beta-thalassemia in homozygotes and compound heterozygotes for the IVS2+1G-->A mutation: role of the beta-globin gene haplotype.

Haematologica - 1 Oct 2003

Ragusa Angela, Amata Silvestra, Lombardo Turi, Castiglia Lucia, Maier-Redelsperger Micheline, Labie Dominique, Bernini Luigi

Abstract excerpt

BACKGROUND AND OBJECTIVES: We report on two families in which the beta(0)-thalassemia mutation IVS2+1G-->A occurs either in the homozygous or compound heterozygous condition with other beta-thalassemia determinants. In the first family the proband, homozygous for the IVS2+1 determinant, is asymptomatic and was detected by chance during a screening program for beta-thalassemia. In the second family, the proband is...

Topics

Adolescent
Adult
Female
Fetal Hemoglobin
Globins
Haplotypes
Heterozygote
Homozygote
Humans
Male
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Pedigree

beta-Thalassemia

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PMID: 14555304

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-14555304-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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Asymptomatic and mild beta-thalassemia in homozygotes and compound heterozygotes for the IVS2+1G-->A mutation: role of the beta-globin gene haplotype.PMID 14555304Read ↗

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