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

Abstract

In Italy, the presence of blood donors with G6PD deficiency is not a rare event and the class II severe variants are frequent. The identification of G6PD-deficient donors and the characterization of the molecular variants would prevent the use of G6PD-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.

The friendly use of chloroquine in the COVID-19 disease: a warning for the G6PD -deficient males and for the unaware carriers of pathogenic alterations of the G6PD gene

“…These percentages are superimposable to those verified in the past 10 years in our laboratory (unpublished data), as evaluated in normal individuals who underwent the G6PD screening to apply to military force selection call. We therefore agree with Maffi et al [7] that also in Italy the presence of blood donors with G6PD deficiency is not a rare event and the class II severe variants are frequent. In this regard, we could expect that in the general population this prevalence is a bit higher than in the controlled cohorts like blood donors, considering that the global prevalence of G6PD deficiency is 4.9%, although epidemiological data are different in various areas.…”

“…Finally, we cannot predict the number of subjects potentially deficient of G6PD within a COVID-19-infected population. This information should be also shared with the scientific community particularly because a recent perspective study on more than 3000 healthy blood donors [7] identified a 1.1% of G6PD-deficient individuals, with haematological parameters of G6PD within the normal range. These percentages are superimposable to those verified in the past 10 years in our laboratory (unpublished data), as evaluated in normal individuals who underwent the G6PD screening to apply to military force selection call.…”

“…In this regard, we could expect that in the general population this prevalence is a bit higher than in the controlled cohorts like blood donors, considering that the global prevalence of G6PD deficiency is 4.9%, although epidemiological data are different in various areas. In fact, countries with the highest prevalence are Africa, Asia, the Mediterranean basin and the Middle East (mean frequencies 5-25%), while in Italy it is 0-3%, with a higher prevalence among the Sardinian population (the mean frequency is 7.5%, with peaks of 25-33% in some provinces) [7]. Lippi and Mattiuzzi also reported that "the worldwide epidemiologic burden of inherited erythrocyte disorders remains particularly high" [8].…”

Thalassemia and Hemoglobin E in Southern Thai Blood Donors

“…In the present study, microcytosis was found to be 25.9% in blood donors. These blood donors could be having hemoglobinopathies and/or iron deficiency [25, 26]. For other red blood cell disorders, glucose-6-phosphate dehydrogenase deficiency was found to be 1.1% (33/3,004) in Italian blood donors [27], 0.3% (1/301) in a metropolitan transfusion service [28], and 0.78% (9/1,150) in King Khalid University Hospital (KKUH) in Riyadh.…”

Prevalence and molecular defect characterization of glucose‐6‐phosphate dehydrogenase deficiency in Brazilian blood donors

“…Sir, Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an inherited enzymopathy, and it affects about 400 million people worldwide [1,2]. Although the majority of G6PD-deficient individuals are asymptomatic, severe acute hemolytic anemia can appear at several levels after exposure to oxidative agents, depending on the G6PD variant [3]. The risk factors associated with the use of G6PD-deficient blood in transfusion remain controversial.…”