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- Title
Glucose-6-phosphate dehydrogenase deficiency in Italian blood donors: prevalence and molecular defect characterization.
- Authors
Maffi, D.; Pasquino, M. T.; Mandarino, L.; Tortora, P.; Girelli, G.; Meo, D.; Grazzini, G.; Caprari, P.
- Abstract
Background In the countries with high G6 PD deficiency prevalence, blood donors are not routinely screened for this genetic defect. G6 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 G6 PD deficiency among the Italian blood donors. Design and Methods From October 2009 to April 2011, 3004 blood donors from a large hospital transfusion centre were screened for G6 PD deficiency using differential pH-metry and the characterization of G6 PD mutations was performed on G6 PD-deficient subjects. The haematological features of G6 PD-deficient and normal donors were also compared. Results Thirty-three subjects (25 men and 8 women) with low G6 PD activity were identified, corresponding to 1·1% of the examined blood donor population. The frequencies of class II severe alleles ( Mediterranean, Valladolid, Chatham and Cassano) and class III mild alleles (Seattle, A- and Neapolis) were 48% and 43%, respectively. The haematological parameters of G6 PD- donors were within normal range; however, the comparison between normal and G6 PD- class II donors showed significant differences. Conclusion In Italy, the presence of blood donors with G6 PD deficiency is not a rare event and the class II severe variants are frequent. The identification of G6 PD-deficient donors and the characterization of the molecular variants would prevent the use of G6 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.
- Subjects
ITALY; GLUCOSE-6-phosphate dehydrogenase deficiency; BLOOD donors; BLOOD transfusion; ERYTHROCYTES; HEMATOLOGY; HEALTH
- Publication
Vox Sanguinis, 2014, Vol 106, Issue 3, p227
- ISSN
0042-9007
- Publication type
Article
- DOI
10.1111/vox.12096