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G6PD deficiency is quite common in Italy where it is characterized by extreme molecular and biochemical heterogeneity. We report a 15-year-old Italian boy with  G6PD Nilgiri (c.593G>A,  p.Arg198His), a typical Indian variant of the Nilgiris tribal groups. Further, this variant was biochemically characterized, and the molecular screening of the family highlighted a  de novo  mutational event. To date, this family is the first Caucasian family carrying the  G6PD Nilgiri  variant.

Report of an Italian family carrying a typical Indian variant of the Nilgiris tribal groups resulting from a de novo occurrence