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Significance of borderline hemoglobin A2 values in an Italian population with a high prevalence of -thalassemia

2008; Ferrata Storti Foundation; Volume: 93; Issue: 9 Linguagem: Inglês

10.3324/haematol.12840

1592-8721

Antonino Giambona, Cristina Passarello, Margherita Vinciguerra, Rita Li Muli, Pietro Teresi, M Anzà, Giuseppa Ruggeri, Disma Renda, Aurelio Maggio,

Folate and B Vitamins Research

We report a retrospective analysis carried out on 23,485 subjects submitted to a screening program from 2000 to 2006. Of these subjects, 3,934 had borderline HbA(2) values from 3.1 to 3.9%; 410 samples, analyzed previously using PCR methods and sequencing because all of these were partners of a carrier of classical beta-thalassemia, were selected for statistical analysis. Of 410 subjects, 94 (22.9%) were positive for a molecular defect in the beta-, delta- or alpha-globin genes. The most prevalent molecular defects were beta IVS1 nt 6 (HBB c.92+6T C), co-inheritance of severe beta thalassemia and delta mutations, beta-promoter mutations and triplication of alpha genes were detected; alpha-thalassemia and Hb-variants were also evident. Borderline HbA(2) is not a rare event in a population with a high prevalence of beta-thalassemia carriers. These data support the necessity to investigate these cases at a molecular level, particularly if the partner is a carrier of beta-thalassemia.