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Neonatal jaundice and molecular mutations in glucose-6-phosphate dehydrogenase deficient newborn infants
C S Huang1, K L Hung, M J Huang
1Department of Laboratory Medicine, Cathay General Hospital, Taipei, Taiwan, Republic of China.
Insights
The most common glucose-6-phosphate dehydrogenase (G6PD) mutation in Chinese neonates in Taiwan is the nucleotide 1376 (G-->T) substitution. This mutation is linked to a higher incidence and longer duration of phototherapy for neonatal jaundice, particularly in males.
Area of Science:
- Genetics
- Neonatology
- Biochemistry
Background:
- Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a common genetic disorder that can lead to neonatal jaundice.
- Understanding the molecular basis and clinical impact of G6PD mutations is crucial for effective management of affected neonates.
Observation:
- A study investigated molecular mutations of the G6PD gene and clinical manifestations in 162 Chinese neonates (112 males, 50 females) with G6PD deficiency.
- The nucleotide (nt) 1376 (G-->T) mutation was the predominant G6PD mutation in males (50.0%) and females (44.0%).
- G6PD deficient neonates required more frequent and longer phototherapy, especially males, and the nt 1376 mutation was associated with poorer phototherapy outcomes.
Findings:
- The nt 1376 (G-->T) mutation is the most prevalent and clinically significant G6PD mutation in Chinese neonates in Taiwan.
- A significant difference in hyperbilirubinemia prevalence was observed between G6PD deficient and normal neonates in males.
- The nt 871 (G-->A) variant was identified as a novel mutation in Taiwan.
Implications:
- Identifying the specific G6PD mutation, particularly nt 1376, can aid in predicting the severity of neonatal jaundice and guiding treatment strategies.
- This research highlights the importance of genetic screening for G6PD deficiency in neonates to prevent severe hyperbilirubinemia and optimize phototherapy.
- Further research into the nt 871 variant's clinical significance is warranted.
Abstract:
Molecular mutations of the glucose-6-phosphate dehydrogenase (G6PD) gene and clinical manifestations of neonatal jaundice in 112 male and 50 female Chinese neonates with G6PD deficiency were studied. In the 112 males, the nucleotide (nt) 1376 (G-->T) mutation was the dominant type (50.0%), followed by nt 1388 (G-->A) (16.1%), nt 493 (A-->G) (8.0%), nt 1024 (C-->T) (6.2%), nt 95 (A-->G) (5.4%), nt 392 (G-->T) (1.8%), nt 487 (G-->A) (1.8%), nt 871 (G-->A) (0.9%), and nt 1360 (C-->T) (0.9%). The nt 871 variant has not been reported in Taiwan before. The occurrence rates for nt 1376, nt 1388, nt 493, nt 95, and nt 1024 mutations in the 50 females were 44.0%, 18.0%, 12.0%, 6.0%, and 6.0%, respectively. The type of G6PD mutation in 10 male and 7 female neonates has not been identified yet. Although G6PD deficient neonates had higher frequency of phototherapy than G6PD normal neonates in both sexes, a significant difference in the prevalence of hyperbilirubinemia (peak bilirubin > or = 15.0 mg/dl) between G6PD deficient and normal neonates was found only in males. Further analysis showed that duration of phototherapy was longer in G6PD deficient male neonates than in the control group, while the outcome of phototherapy was better in subjects with non-nt 1376 mutations than subjects with the nt 1376 mutation. Most (78.3%) of the 23 G6PD deficient neonates who subsequently suffered from neonatal hyperbilirubinemia carried the nt 1376 mutation. The results of this study indicate that the nucleotide substitution at 1376 is the most common and important mutation for G6PD deficiency in Chinese neonates in Taiwan.