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Article

Heterozygous beta-thalassemia with thalassemia intermedia phenotype.

American journal of hematology - 1 Jan 1998

Gasperini D, Perseu L, Melis M A, Maccioni L, Sollaino M C, Paglietti E, Cao A, Galanello R

Abstract excerpt

In this study we investigated the molecular bases of the beta-thalassemia intermedia phenotype in six patients belonging to two unrelated families of Sardinian descent. Sequence analysis of the beta globin gene from these patients detected, as the sole abnormality, the heterozygosity for the codon 39 nonsense mutation. The A gamma and Ggamma promoters as well as the HS2 and HS3 core sequences of the beta globin...

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PMID: 9423815
DOI: 10.1002/(sici)1096-8652(199801)57:1<43::aid-ajh7>3.0.co;2-1

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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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