Haematologica
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Published online 4 July 2008
Haematologica, Vol 93, Issue 9, 1380-1384 doi:10.3324/haematol.12840
Copyright © 2008 by Ferrata Storti Foundation
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Thalassemia Syndromes

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

Antonino Giambona1, Cristina Passarello1, Margherita Vinciguerra1, Rita Li Muli1, Pietro Teresi2, Maurizio Anzà2, Gaetano Ruggeri2, Disma Renda1, Aurelio Maggio1

1 U.O. Ematologia II con Talassemia, Ospedale Vincenzo Cervello, Palermo
2 Centro di riferimento Aziendale per la Prevenzione delle Talassemie, ASL 6 Palermo, Bagheria, Italy

Correspondence: Aurelio Maggio, U.O.C. Ematologia II con Talassemia, Azienda Ospedaliera Vincenzo Cervello, via Trabucco 180, Palermo, Italy. E-mail:aureliomaggio{at}virgilio.it

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 HbA2 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 β-thalassemia, were selected for statistical analysis. Of 410 subjects, 94 (22.9%) were positive for a molecular defect in the β-, {delta}- or {alpha}-globin genes. The most prevalent molecular defects were β IVS1 nt 6 (HBB c.92+6T C), co-inheritance of severe β thalassemia and {delta} mutations, β-promoter mutations and triplication of {alpha} genes were detected; {alpha}-thalassemia and Hb-variants were also evident. Borderline HbA2 is not a rare event in a population with a high prevalence of β-thalassemia carriers. These data support the necessity to investigate these cases at a molecular level, particularly if the partner is a carrier of β-thalassemia.

Key words: HbA2 borderline, β thalassemia, carrier screening.






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Copyright © 2008 by the Ferrata Storti Foundation.