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Neonatal hyperbilirubinaemia in heterozygous glucose-6-phosphate dehydrogenase deficient females
Insights
Neonatal hyperbilirubinemia risk is high in infants with low Glucose-6-phosphate dehydrogenase (G6PD) activity or over 40% G6PD deficient erythrocytes. Prophylactic phenobarbital treatment is recommended for these high-risk newborns.
Area of Science:
- Biochemistry
- Genetics
- Neonatology
Background:
- Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an inherited condition affecting red blood cells.
- Neonatal hyperbilirubinemia, or jaundice, is a common condition in newborns that can have serious consequences if untreated.
Purpose of the Study:
- To investigate the correlation between G6PD activity, percentage of G6PD deficient erythrocytes, and the occurrence of neonatal hyperbilirubinemia in heterozygous girls.
- To identify predictive markers for neonatal hyperbilirubinemia in infants with G6PD deficiency.
Main Methods:
- Enzymatic activity of G6PD and the percentage of G6PD deficient erythrocytes were measured in 50 heterozygous girls.
- Participants were divided into two groups: those with a history of neonatal hyperbilirubinemia and those with normal bilirubin levels at birth.
Main Results:
- Girls with a history of hyperbilirubinemia had lower G6PD activity (2.32 I.U./g Hb) and a higher percentage of deficient erythrocytes (54.1%) compared to those with normal bilirubin levels (3.31 I.U./g Hb and 65.3%).
- A G6PD enzymatic activity below 4 I.U./g Hb or more than 40% deficient erythrocytes was associated with a high risk of neonatal hyperbilirubinemia.
Conclusions:
- Enzymatic activity below 4 I.U./g Hb or over 40% deficient erythrocytes are significant indicators for high risk of neonatal hyperbilirubinemia.
- Prophylactic phenobarbital treatment should be considered for newborns identified as high-risk, similar to G6PD deficient Mediterranean males.
Abstract:
Glucose-6-phosphate dehydrogenase (G6PD, D-glucose 6-phosphate: NADP oxidoreductase, E.C. 1.1.1.49) activity and the percentage of G6PD deficient erythrocytes was determined in 50 girls heterozygous for G6PD deficiency, 25 of whom had had hyperbilirubinaemia at birth and 25 who had normal bilirubin levels. The enzymatic activity was 2.32 +/- 0.87 I.U./g Hb in the first group and 3.31 +/- 0.92 I.U./g Hb in the second group. The percentage of G6PD deficient erythrocytes was 54.1 +/- 15.3 and 65.3 +/- 14.0, respectively. The level of enzymatic activity exceeded 4 I.U./g Hb and the percentage of G6PD deficient cells fell below 40% in only one of the subjects who had developed hyperbilirubinaemia. Levels of enzymatic activity below 4 I.U./g Hb, or percentages of G6PD deficient erythrocytes higher than 40% can therefore be considered to be associated with a high risk of developing neonatal hyperbilirubinaemia. In our opinion, these babies should receive prophylactic treatment with phenobarbital, as do G6PD deficient Mediterranean males.