Pediatr Res. 2024 Nov 13. doi: 10.1038/s41390-024-03712-4. Online ahead of print.
ABSTRACT
Neonatal G6PD deficiency (G6PDd) prevalence explains its recent recognition as a major contributory cause of extreme hyperbilirubinemia (EHB). Disparate global EHB burden reveals comparative racial prevalence of leading conditions, Rh negativity and G6PDd: 15-17% vs. < 5% in Caucasians, 4 to 8% vs. up to 17% in Blacks and 0.1 to 4% vs. 5-8% in Asians, respectively. G6PDd also burdens malaria endemic countries planning malarial elimination. Binary expression of male G6PDd is reliably diagnostic but is complex and uncertain for heterozygous females. Unlike the RhD disease and its prevention, the medical and hematological life burdens of female G6PDd and heterozygosity have been vastly understudied. Three silent global health crises intersect: EHB, Malaria, and women’s health. Regardless of race, sex, or geography, clinical practice needs optimization with dual (phenotypic and genotypic) screening to allow women plan and anticipate safe pregnancies, birthing, breastfeeding and enjoy their newborns’ healthy childhood in a society freed of malaria.
PMID:39537762 | DOI:10.1038/s41390-024-03712-4
