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

Abstract

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.

• Authors: Antonino Giambona, Cristina Passarello, Margherita Vinciguerra, Rita Li Muli, Pietro Teresi, Maurizio Anzà, Gaetano Ruggeri, Disma Renda, Aurelio Maggio
• Journal: Haematologica (Haematologica) Vol. 93 Issue 9 Pg. 1380-4 (Sep 2008) ISSN: 1592-8721 [Electronic] Italy
• PMID: 18603555 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Hemoglobin A2

Topics

• Hemoglobin A2 (genetics, metabolism)
• Humans
• Italy (epidemiology)
• beta-Thalassemia (blood, epidemiology)