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

• Published in: Acta haematologica Vol. 86; no. 4; p. 174
• Main Authors: Leoni, G B, Rosatelli, C, Vitucci, A, Addis, M, Loi, A, Tannoia, N, Cao, A
• Format: Journal Article
• Language: English
• Published: Switzerland 01.01.1991
• Subjects: Alpha-Globulins - genetics; Beta-Globulins - genetics; Child; Child, Preschool; gamma-Globulins - genetics; Gene Rearrangement - genetics; Haplotypes; Heterozygote; Homozygote; Humans; Italy; Mutation - genetics; Phenotype; Thalassemia - blood; Thalassemia - genetics; Italy
• ISSN: 0001-5792
• DOI: 10.1159/000204829

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 at position -158 5' of the G gamma-globin gene were detected more frequently in patients with thalassemia intermedia or late-presenting thalassemia major considered together as compared to those affected by typical transfusion-dependent thalassemia major. Three of 15 patients with thalassemia intermedia had the triple alpha-globin gene arrangement in the heterozygous (2) or homozygous state (1) in association with heterozygous beta zero-thalassemia. From these results, we may conclude that the inheritance of a mild beta-thalassemia allele such as the beta+ IVS-I nt 6 mutation, in the homozygous or heterozygous state, the coinheritance with homozygous beta zero-thalassemia of the -158 (C---T) G gamma gene promoter mutation and the presence of heterozygous beta-thalassemia/triple alpha-globin gene arrangement are the most common reasons accounting for the development of attenuated forms of beta-thalassemia in Puglia.