Hemolysis and Hyperbilirubinemia in an African American Neonate Heterozygous for Glucose-6-Phosphate Dehydrogenase Deficiency

Herschel, Marguerite; Ryan, Margaret; Kaplan, Michael

doi:10.1038/sj.jp.7210769

Cited by 30 publications

(11 citation statements)

References 14 publications

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“…Paramount to this task is the introduction of rapid, mandatory neonatal screening for G6PD deficiency across the United States. The absence of significant hyperbilirubinemia in the cohort of infants in this study 7 (all but eight of which were G6PD sufficient) and the association of G6PD deficiency and other polymorphisms in bilirubin metabolism genes with significant or severe jaundice in African-American babies 1,8,12 suggest an important role for early identification of this condition in this population of newborns. G6PD deficiency occurs in roughly 12% of African-American males and 4% of African-American females (based on a study of US military personnel 13 ), within or well above the 3-5% male frequency threshold for screening recommended by the World Health Organization over 25 years ago.…”

mentioning

confidence: 68%

The African-American neonate at risk for extreme hyperbilirubinemia: a better management strategy is needed

Golden

2017

J Perinatol

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mentioning

confidence: 68%

The African-American neonate at risk for extreme hyperbilirubinemia: a better management strategy is needed

Golden

2017

J Perinatol

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“…The contrasting results of this report and that of Huang et al may be due to the different G-6-PD mutation, paucity of UGT 1A1 promoter polymorphism in the Chinese population , and additional genetic or environmental factors. Adding support to the concept of G-6-PD heterozygosity contributing to neonatal disease process are case reports of severe hemolysis and hyperbilirubinemia in two female Sephardic Jewish G-6-PD heterozygotes ] and an African American heterozygote (G-6-PD A+/A-) [Herschel et al 2002], all of who had molecular confirmation of their heterozygous state.…”

Section: G-6-pd Heterozygosity and Neonatal Jaundicementioning

confidence: 89%

Bilirubin and the Genome: The Hereditary Basis of Unconjugated Neonatal Hyperbilirubinemia

Kaplan¹,

Hammerman²

2005

CPG

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Severe neonatal unconjugated hyperbilirubinemia, with the risk of bilirubin encephalopathy or kernicterus in severe, untreated cases, occurs when bilirubin production exceeds the body's ability to eliminate it. The causes of neonatal hyperbilirubinemia are multifactorial and comprise increased hemolysis on the one hand, and diminished bilirubin conjugation on the other. In recent years, many of these etiologies have been found to have a genetic origin. Sometimes hereditary factors act independently, but in other circumstances, single mutations which ordinarily do not produce disease in and of themselves, may result in severe hyperbilirubinemia as a result of interaction with other mutated genes. Of cardinal importance to this discussion is the concept of the human genome, whereby the thousands of genes of which it is comprised may interact one with the other, or with the environment, exacerbating the severity of jaundice in certain individuals, and protecting against hyperbilirubinemia in others. Genetic interactions have been demonstrated combining increased bilirubin production with diminished bilirubin conjugation, resulting in severe hyperbilirubinemia. Appreciation of the multiplicity of genetic interactions is of importance in our evaluation of the neonate with severe hyperbilirubinemia, in our attempts to prevent future cases of kernicterus, and in genetic counseling of families who have had an infant with severe neonatal hyperbilirubinemia. Gene therapy for the most severe of these inherited defects of bilirubin conjugation, Crigler-Najjar syndrome type 1, might become a reality in future years.

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“…conjugation defects) may engender dangerously high TSB levels, causing acute bilirubin encephalopathy and/or kernicterus in some infants. African-American infants have a high incidence of hemolysis due to glucose-6-phosphate dehydrogenase deficiency and deserve special attention [9]. Early recognition of these complications would be facilitated by development of a multifactorial index of risk for selection of neonates who need chemoprevention or phototherapy.…”

Section: Bilirubin-induced Neurological Dysfunction (Bind) and Kernicmentioning

confidence: 99%

The molecular basis of bilirubin encephalopathy and toxicity: Report of an EASL Single Topic Conference, Trieste, Italy, 1–2 October, 2004

Tiribelli

Ostrow

2005

Journal of Hepatology

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Hemolysis and Hyperbilirubinemia in an African American Neonate Heterozygous for Glucose-6-Phosphate Dehydrogenase Deficiency

Cited by 30 publications

References 14 publications

The African-American neonate at risk for extreme hyperbilirubinemia: a better management strategy is needed

The African-American neonate at risk for extreme hyperbilirubinemia: a better management strategy is needed

Bilirubin and the Genome: The Hereditary Basis of Unconjugated Neonatal Hyperbilirubinemia

The molecular basis of bilirubin encephalopathy and toxicity: Report of an EASL Single Topic Conference, Trieste, Italy, 1–2 October, 2004

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