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Article

Molecular basis of beta-thalassemia intermedia in a southern Italian region (Puglia).

Acta haematologica - 1 Jan 1991

Leoni G B, Rosatelli C, Vitucci A, Addis M, Loi A, Tannoia N, Cao A

Abstract excerpt

We investigated the molecular bases for a mild phenotype by alpha-, beta- and gamma-globin gene analyses in 22 patients with transfusion-independent thalassemia intermedia (15) or a late-presenting form of thalassemia major (7) originating from Puglia, a region of southern Italy. Twenty-two patients with thalassemia major served as controls. The beta+ IVS-I nt 6 of the beta-globin gene and the C----T substitution...

Topics

Alpha-Globulins
Beta-Globulins
Child
Child, Preschool
Gene Rearrangement
Haplotypes
Heterozygote
Homozygote
Humans
Italy
Mutation
Phenotype

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Thalassemia

gamma-Globulins

Source

Identifiers

PMID: 1725229
DOI: 10.1159/000204829

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1725229-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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