Thirty-five males with severe (Class 1) G6PD deficiency (c.637G&gt;T) in a North American family of European ancestry

Bahr, Timothy M.; Agarwal, Archana; Meznarich, Jessica; Prince, Wende L.; Wait, Tirzah; Prchal, Josef T.; Christensen, Robert D.

doi:10.1016/j.bcmd.2021.102625

Cited by 2 publications

(3 citation statements)

References 38 publications

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“…Although higher incidence among black neonates has been recognized and confirmed by more recent prospective cohort studies in newborn population [8]; recent clinical reports [25,26] report adverse clinical consequences of neonatal hyperbilirubinemia that are not limited to specific race or ethnicity alone. As a first step to assist the clinicians, we generated estimates of G6PD deficient neonates classified by maternal race and state of birth-based that were easily accessed from available relevant epidemiological data.…”

Section: Discussionmentioning

confidence: 93%

“…23 Even though, the precise population-based data regarding incidence of G6PDd among newborns are limited for United States, two large demographic prevalence studies in 2006 and 2018 17,24 estimated that the overall prevalence rate is 2.2%, with the highest prevalence among non-Hispanic Black male adult military recruits (11.2%) and the lowest prevalence in non-Hispanic Caucasian female population (0.3%). Although higher incidence among Black neonates has been recognized and confirmed by more recent prospective cohort studies in newborn population 8 , recent clinical reports 25,26 suggest adverse clinical consequences of neonatal hyperbilirubinemia that are not limited to specific race or ethnicity alone. As a first step to assist the clinicians, we generated estimates of G6PD-deficient neonates classified by maternal race and state of birth that were easily accessed from available relevant epidemiological data.…”

Section: Discussionmentioning

confidence: 96%

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Georacial Epidemiological Estimates of Glucose-6-Phosphate Dehydrogenase Deficiency among Newborns in the United States

Vidavalur

Bhutani

2023

Am J Perinatol

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Background: Glucose-6-Phosphate Dehydrogenase deficiency (G6PDd) is the most common inherited enzyme deficiency disorder worldwide and a major risk factor for the development of severe hyperbilirubinemia. The aim of the present study was to predict an empirical estimate of annual prevalence of G6PDd in newborns adjusted for geography (state of birth), racial identity and sex of the infant. Methods: Birth statistics (2019) from National Center for Vital Statistics and CDC-WONDER data; and race-specific prevalence of G6PDd in the USA were evaluated from published sources. We developed Simpsons diversity index (DI) for each State and correlated these to rates of G6PDd in neonates. Descriptive statistics including modelled prevalence and its association with DI were assessed using the Spearman Rho correlation test. We modelled state-specific prevalence using population level allele frequencies and the race, based on Hardy–Weinberg equilibrium. Results: We estimate 78,010 (95% CI: 76,768, 79,252) newborns had G6PDd at birth in 2019 with median prevalence of 17.3 (IQR: 12.4, 23.2) per 1000 live births for USA. A strong association was noted for DI and prevalence of G6PDd (p<.0005). Five states (DC, MS, LA, GA, and MD) have the highest projected G6PDd prevalence, with a range of 35- 48 per 1000 live births. The probability of G6PDd for female heterozygotes, based on male prevalence, ranged from 1.1- 7.5% for each cohort in the select six states. Conclusions: States with diverse populations are likely to have higher rates of G6PDd. These discrepancies are further confounded by known risk of severe neonatal hyperbilirubinemia that results with G6PDd and the life-long risk of hemolysis. Combined universal newborn pre-discharge screening for G6PDd and bilirubin could alert and guide a clinician’s practices for parental education and closer medical surveillance of vulnerable neonatal time period.

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Section: Discussionmentioning

confidence: 93%

Section: Discussionmentioning

confidence: 96%

Georacial Epidemiological Estimates of Glucose-6-Phosphate Dehydrogenase Deficiency among Newborns in the United States

Vidavalur

Bhutani

2023

Am J Perinatol

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“…Ethnicity alone does not always determine G6PD deficiency risk, as G6PD deficiency has been found in individuals outside of these higher risk populations. For instance, one study found at least 35 males with severe G6PD deficiency from one European family [1]. Females with intermediate G6PD levels can also be impacted.…”

Section: Introductionmentioning

confidence: 99%

Preliminary Investigation into the Prevalence of G6PD Deficiency in a Pediatric African American Population Using a Near-Patient Diagnostic Platform

Leung-Pineda,

Weinzierl,

Rogers

2023

Diagnostics

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Glucose-6-phosphate dehydrogenase (G6PD) deficiency is prevalent in the African American population. We identified eighteen G6PD-deficient samples (9%) in a study of residual, de-identified whole blood specimens from 200 African American pediatric patients using a point-of-care instrument. This highlights the possibility of a rapid time to result for G6PD testing, which can be valuable in some clinical scenarios.

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Thirty-five males with severe (Class 1) G6PD deficiency (c.637G>T) in a North American family of European ancestry

Cited by 2 publications

References 38 publications

Georacial Epidemiological Estimates of Glucose-6-Phosphate Dehydrogenase Deficiency among Newborns in the United States

Georacial Epidemiological Estimates of Glucose-6-Phosphate Dehydrogenase Deficiency among Newborns in the United States

Preliminary Investigation into the Prevalence of G6PD Deficiency in a Pediatric African American Population Using a Near-Patient Diagnostic Platform

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