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Neonatal screening for glucose-6-phosphate dehydrogenase deficiency in Taiwan
1Department of Medical Research and Education, Institute of Genetics, National Yang-Ming University, Taipei, Taiwan, ROC.
Insights
Taiwan
Area of Science:
- Medical Genetics
- Public Health
- Biochemistry
Background:
- Glucose-6-phosphate dehydrogenase (G6PD) deficiency is Taiwan's most prevalent enzymopathy.
- Neonatal screening for G6PD deficiency commenced with a pilot program in 1984, expanding nationwide in 1987.
Purpose of the Study:
- To evaluate the effectiveness and reliability of Taiwan's nationwide neonatal screening program for G6PD deficiency.
- To establish quality assurance measures and identify common G6PD mutations within the Taiwanese population.
Main Methods:
- Fluorometric spot testing of over 2.9 million neonatal heel blood samples from 1987 to 1997.
- Implementation of an external quality assurance program for G6PD assays in referral hospitals.
- Development of a dried blood spot method for detecting G6PD gene mutations.
Main Results:
- A G6PD deficiency prevalence of approximately 2.1% (3.1% in males, 0.9% in females) was confirmed.
- The neonatal screening coverage rate reached 99% by 1997.
- The quality assurance program identified 13.5% abnormal results, with instrumental errors being the most frequent cause (47.3%).
- Analysis revealed specific frequencies for common G6PD mutant alleles in Taiwan.
Conclusions:
- Taiwan's neonatal screening program for G6PD deficiency is highly effective, achieving near-universal coverage.
- Continuous quality assurance is crucial for maintaining the accuracy of G6PD testing.
- Understanding the spectrum of G6PD mutations is vital for genetic counseling and clinical management in Taiwan.
Abstract:
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common enzymopathic disease in Taiwan. The mass neonatal screening of G6PD deficiency by fluorometric spot test in Taiwan was started with a pilot program in 1984. The nationwide screening was started on July 1, 1987, and a follow-up system comprising of eighteen referral hospitals, including outlying islands, was organized for confirmatory test, medical care and genetic counseling. From July 1987 to December 1997, 2,971,192 heel blood samples collected on filter paper from 1,143 delivery units were screened by four neonatal screening centers. 46,570 cases were confirmed as G6PD deficiency is estimated to be around 2.1% (male 3.1%, female 0.9%) in Taiwan. The coverage rate of neonatal screening was 99% in 1997. To assess the reliability of the confirmatory test, an external quality assurance (QA) program for G6PD assay was developed. Periodically, 3 or 5 lyophilized quality control materials with different activities of G6PD were sent to each referral hospital by speed post delivery in dry ice. From January 1988 to June 1998, 85 QA services were performed. Two hundred and seven (13.5%) abnormal QA results were found, which were attributed to clerk (11.6%), procedural (16.4%), and instrumental errors (47.3%). In aid to confirm G6PD deficiency, a method to detect the G6PD mutation by using the dried blood samples was developed. The frequencies of the mutant alleles in Taiwan were determined to be 46.8% (1376G > T), 16.2% (1388G > A), 7.9% (95A > G), 6.5% (493A > G), 5.6% (392G >T), 4.6% (1024C > T), 0.5% (487G > A) and 0.5% (519C > G), respectively.