Mass newborn screening for glucose-6-phosphate dehydrogenase deficiency in Singapore. 1999

R Joseph, and L Y Ho, and J M Gomez, and V S Rajdurai, and S Sivasankaran, and Y Y Yip
Department of Neonatology, National University Hospital, Singapore.

Recognition of kernicterus as a significant contributor to newborn mortality and morbidity in G6PD deficient babies and the ease with which G6PD deficiency could be detected and kernicterus prevented by avoidance of triggers, led to the establishment of mass newborn screening for G6PD deficiency in 1965. G6PD deficient newborns are identified within a day of birth by measuring the enzyme activity in cord blood. They are then physically protected from triggers by keeping them in the hospital for the first 2 weeks of life after their parents are counseled. Enzyme activity is measured using Wong's in-house modification of the Bernstein's technique or the BM G6PD Deficiency Screening test based on the Beutler assay. Close to 1.6 million newborns, representing practically 100% of all births have been screened. Analysis of data from 22,830 newborns at the National University Hospital reveals an incidence of 1.62% in all newborns. 3.15% in males and and 0.11% in females. A distinct racial variation in the incidence of deficiency was observed in males: Chinese 3.94%, Malays 2.95% and Indians 0.66%. Intermediate deficiency was most frequently identified (1.83%) in Chinese females. With the preventive measures. the incidence of kernicterus has dropped dramatically and there has been, over the last 20 years, no reported cases of kernicterus in newborns with G6PD deficiency. We are now looking at issues like comparing different assay techniques and determining a shorter period of stay in hospital. We believe that all Asians, especially Chinese babies, should be screened for G6PD deficiency, irrespective of which country the child is born.

UI MeSH Term Description Entries
D007231 Infant, Newborn An infant during the first 28 days after birth. Neonate,Newborns,Infants, Newborn,Neonates,Newborn,Newborn Infant,Newborn Infants
D007647 Kernicterus A term used pathologically to describe BILIRUBIN staining of the BASAL GANGLIA; BRAIN STEM; and CEREBELLUM and clinically to describe a syndrome associated with HYPERBILIRUBINEMIA. Clinical features include athetosis, MUSCLE SPASTICITY or hypotonia, impaired vertical gaze, and DEAFNESS. Nonconjugated bilirubin enters the brain and acts as a neurotoxin, often in association with conditions that impair the BLOOD-BRAIN BARRIER (e.g., SEPSIS). This condition occurs primarily in neonates (INFANT, NEWBORN), but may rarely occur in adults. (Menkes, Textbook of Child Neurology, 5th ed, p613) Bilirubin Encephalopathy,Hyperbilirubinemic Encephalopathy,Encephalopathy, Bilirubin,Encephalopathy, Hyperbilirubinemic,Bilirubin Encephalopathies,Encephalopathies, Bilirubin,Encephalopathies, Hyperbilirubinemic,Hyperbilirubinemic Encephalopathies
D008297 Male Males
D005260 Female Females
D005955 Glucosephosphate Dehydrogenase Deficiency A disease-producing enzyme deficiency subject to many variants, some of which cause a deficiency of GLUCOSE-6-PHOSPHATE DEHYDROGENASE activity in erythrocytes, leading to hemolytic anemia. Deficiency of Glucose-6-Phosphate Dehydrogenase,Deficiency, GPD,Deficiency, Glucosephosphate Dehydrogenase,G6PD Deficiency,GPD Deficiency,Glucose 6 Phosphate Dehydrogenase Deficiency,Glucose-6-Phosphate Dehydrogenase Deficiency,Glucosephosphate Dehydrogenase Deficiencies,Hemolytic Anemia Due to G6PD Deficiency,Deficiencies, G6PD,Deficiencies, GPD,Deficiencies, Glucose-6-Phosphate Dehydrogenase,Deficiencies, Glucosephosphate Dehydrogenase,Deficiency of Glucose 6 Phosphate Dehydrogenase,Deficiency, G6PD,Deficiency, Glucose-6-Phosphate Dehydrogenase,Dehydrogenase Deficiencies, Glucose-6-Phosphate,Dehydrogenase Deficiencies, Glucosephosphate,Dehydrogenase Deficiency, Glucose-6-Phosphate,Dehydrogenase Deficiency, Glucosephosphate,G6PD Deficiencies,GPD Deficiencies,Glucose-6-Phosphate Dehydrogenase Deficiencies
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D012846 Singapore Country of islands in Southeastern Asia, islands between Malaysia and Indonesia. The capital is Singapore.
D015994 Incidence The number of new cases of a given disease during a given period in a specified population. It also is used for the rate at which new events occur in a defined population. It is differentiated from PREVALENCE, which refers to all cases in the population at a given time. Attack Rate,Cumulative Incidence,Incidence Proportion,Incidence Rate,Person-time Rate,Secondary Attack Rate,Attack Rate, Secondary,Attack Rates,Cumulative Incidences,Incidence Proportions,Incidence Rates,Incidence, Cumulative,Incidences,Person time Rate,Person-time Rates,Proportion, Incidence,Rate, Attack,Rate, Incidence,Rate, Person-time,Rate, Secondary Attack,Secondary Attack Rates
D015997 Neonatal Screening The identification of selected parameters in newborn infants by various tests, examinations, or other procedures. Screening may be performed by clinical or laboratory measures. A screening test is designed to sort out healthy neonates (INFANT, NEWBORN) from those not well, but the screening test is not intended as a diagnostic device, rather instead as epidemiologic. Infant, Newborn, Screening,Newborn Infant Screening,Newborn Screening,Neonatal Screenings,Newborn Infant Screenings,Newborn Screenings,Screening, Neonatal,Screening, Newborn,Screening, Newborn Infant,Screenings, Neonatal,Screenings, Newborn,Screenings, Newborn Infant

Related Publications

R Joseph, and L Y Ho, and J M Gomez, and V S Rajdurai, and S Sivasankaran, and Y Y Yip
January 1996, Annals of the Academy of Medicine, Singapore,
R Joseph, and L Y Ho, and J M Gomez, and V S Rajdurai, and S Sivasankaran, and Y Y Yip
January 2005, Molecular genetics and metabolism,
R Joseph, and L Y Ho, and J M Gomez, and V S Rajdurai, and S Sivasankaran, and Y Y Yip
June 1984, Medical journal of Zambia,
R Joseph, and L Y Ho, and J M Gomez, and V S Rajdurai, and S Sivasankaran, and Y Y Yip
October 1967, The Journal of pediatrics,
R Joseph, and L Y Ho, and J M Gomez, and V S Rajdurai, and S Sivasankaran, and Y Y Yip
July 1992, The Journal of pediatrics,
R Joseph, and L Y Ho, and J M Gomez, and V S Rajdurai, and S Sivasankaran, and Y Y Yip
January 1973, Israel journal of medical sciences,
R Joseph, and L Y Ho, and J M Gomez, and V S Rajdurai, and S Sivasankaran, and Y Y Yip
April 1981, Texas medicine,
R Joseph, and L Y Ho, and J M Gomez, and V S Rajdurai, and S Sivasankaran, and Y Y Yip
June 2015, Clinical pediatrics,
R Joseph, and L Y Ho, and J M Gomez, and V S Rajdurai, and S Sivasankaran, and Y Y Yip
October 1968, Journal of the Indian Medical Association,
R Joseph, and L Y Ho, and J M Gomez, and V S Rajdurai, and S Sivasankaran, and Y Y Yip
September 1992, The Journal of pediatrics,
Copied contents to your clipboard!