Glucose‐6‐phosphate dehydrogenase deficiency in I talian blood donors: prevalence and molecular defect characterization

Background In the countries with high G 6 PD deficiency prevalence, blood donors are not routinely screened for this genetic defect. G 6 PD deficiency is often asymptomatic, blood donors may be carriers of the deficiency without being aware of it. The aim of the study was to evaluate the prevalence of G 6 PD deficiency among the Italian blood donors. Design and Methods From O ctober 2009 to A pril 2011, 3004 blood donors from a large hospital transfusion centre were screened for G 6 PD deficiency using differential pH‐metry and the characterization of G 6 PD mutations was performed on G 6 PD ‐deficient subjects. The haematological features of G 6 PD ‐deficient and normal donors were also compared. Results Thirty‐three subjects (25 men and 8 women) with low G 6 PD activity were identified, corresponding to 1·1% of the examined blood donor population. The frequencies of class II severe alleles ( M editerranean, V alladolid, C hatham and C assano) and class III mild alleles (Seattle, A‐ and N eapolis) were 48% and 43%, respectively. The haematological parameters of G 6 PD ‐ donors were within normal range; however, the comparison between normal and G 6 PD ‐ class II donors showed significant differences. Conclusion In Italy, the presence of blood donors with G 6 PD deficiency is not a rare event and the class II severe variants are frequent. The identification of G 6 PD ‐deficient donors and the characterization of the molecular variants would prevent the use of G 6 PD ‐deficient RBC units when the haemolytic complications could be relevant especially for high risk patients as premature infants and neonates and patients with sickle cell disease submitted to multiple transfusions.