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Molecular characterization of glucose-6-phosphate dehydrogenase deficiency in Chinese infants with or without severe
1Department of Paediatrics, Kaohsiung Medical College Hospital, Taipei, Taiwan, R.O.C.
Insights
This study identified nine common glucose-6-phosphate dehydrogenase (G6PD) gene mutations in Chinese infants. The G to T substitution at nucleotide 1376 was the most frequent cause of G6PD deficiency and severe neonatal jaundice.
Area of Science:
- Genetics
- Pediatrics
- Biochemistry
Background:
- Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a common genetic disorder.
- Neonatal jaundice is a frequent complication of G6PD deficiency.
- Understanding G6PD mutations is crucial for managing hyperbilirubinemia in infants.
Purpose of the Study:
- To characterize the spectrum of glucose-6-phosphate dehydrogenase (G6PD) gene mutations in Chinese infants.
- To investigate the correlation between specific G6PD mutations and the need for blood exchange transfusion (BET) therapy.
- To assess the enzyme activity in G6PD-deficient infants requiring BET.
Main Methods:
- Genotyping of 213 G6PD-deficient infants without BET and 34 infants requiring BET.
- Identification and characterization of point mutations in the G6PD gene.
- Measurement of G6PD enzyme activity.
Main Results:
- Nine different point mutations in the G6PD gene were identified.
- The G to T substitution at nucleotide 1376 was the most prevalent mutation (53.0%) in G6PD-deficient infants.
- Infants requiring BET therapy exhibited significantly lower G6PD enzyme activity compared to those not requiring BET, even with the same mutation.
Conclusions:
- The G to T substitution at nt 1376 is a major cause of G6PD deficiency and severe neonatal jaundice in Chinese infants.
- Severe neonatal jaundice requiring BET therapy can occur with various G6PD variants.
- Lower G6PD enzyme activity is associated with a higher risk of severe hyperbilirubinemia requiring BET.
Abstract:
To characterize mutations in the glucose-6-phosphate dehydrogenase (G6PD) gene in Chinese infants, we studied 213 G6PD-deficient infants without blood exchange transfusion (BET) therapy, and 34 patients who required BET therapy for their severe hyperbilirubinaemia after birth. Nine different point mutations were characterized in all infants. Of these mutations, the G to T substitution at cDNA nucleotide (nt) 1376, which accounts for the mutations in 131 (53.0%) neonates, followed by G to A substitution at nt 1388 in 18 (10.5%) infants, A to G substitution at nt 493 in 17 (6.9%) infants, A to G substitution at nt 95 in 10 (4.1%) infants, C to T substitution at nt 1024 in six (2.4%) infants, and G to T substitution at nt 392 in three (1.2%) infants, G to A substitution at nt 487 in two (0.8%) infants, C to T substitution at nt 1360 in two (0.8%) infants and C to T substitution at nt 592 in two (0.8%) infants. Mutations in 48 (19.5%) G6PD-deficient infants were not characterized. Most (64.7%) mutations in the G6PD-deficient infants who required BET therapy after birth result from a G to T substitution at nt 1376. The enzyme activity of G6PD deficient infants who required BET therapy is significantly lower than for those who did not, even in a group with the same variant (as in 1376 mutation). Severe neonatal jaundice requiring BET therapy can take place with the majority of variants encountered in this area.