A Novel Variant in < b > < i > G6PD < /i > < /b > (c.1375C & #x3e;G) Identified from a Hispanic Neonate with Extreme Hyperbilirubinemia and Low G6PD Enzymatic Activity

We report a novel glucose-6-phosphate dehydrogenase (G6PD) variant (c.1375C#x3e;G) discovered in a 3-day-old Hispanic male child from Salt Lake City, UT, USA. This newborn presented with severe hyperbilirubinemia (29.8 mg/dL or 510 μmol/L) and marked hemolysis evidenced by elevated end-tidal carbon monoxide concentration (5.9 ppm, normal #x3c;1.7 ppm). Despite a very low prevalence of G6PD deficiency in Hispanic populations, we pursued testing for this condition and found he had low erythrocyte G6PD enzyme activity (2.8 U/g H b, normal 9.9–16.6 U/g Hb) and a novelG6PD variant. His mother was heterozygous for this same variant, and she had a moderate decrease in G6PD enzyme activity (7.1 U/g Hb). On the basis of these findings, we propose this variant as a novel pathogenic mutation.Neonatology
Source: Neonatology - Category: Perinatology & Neonatology Source Type: research