Glucose-6-phosphate dehydrogenase (G6PD; EC184.108.40.206) deficiency is the most common enzymopathic disease in Southeast Asia and other tropical areas worldwide. This X-linked genetic disorder (MIM 305900) has been found to be an important cause of neonatal jaundice and acute haemolytic anemia in the southern Chinese population in Taiwan. In order to reduce the complications of G6PD deficiency, such as kernicterus, permanent neurological damage and death, nationwide neonatal screening for G6PD deficiency was started on 1 July 1987 after a pilot project conducted between November 1984 and June 1987 had demonstrated the practicality and the efficiency of neonatal screening of G6PD deficiency in Taiwan. The effective collection rate has reached more than 99% of all newborns in Taiwan since 1996 and the overall incidence rate of G6PD deficiency was found to be about 2%.
The referral hospitals, which were located all around Taiwan including the outlying islands, were organized to provide confirmatory testing, medical care and genetic counseling for the screen positive cases. In order to assess the reliability of the confirmatory test performed by the referral laboratories, an external qaulity assurance (EQA) program for the determination of G6PD activity in erythrocytes has been carried out since January 1988.
Periodically, three QC materials ( lyophilized hemolysate ) were sent to each participating laboratory on dry ice by speed post delivery. The results of G6PD activity analysis were requested to be returned by facsimile (and internet submission since 2005) within 8 days. The external QA results were evaluated and compared to the median of all reports received and the reference value determined by our laboratory. The summary report for each survey was published on website within two weeks after the survey started. Since 2007, the error rates have been decreased to less than 4%. Inter-laboratory C.V. for the quantitative test has reached < 10% in recent years.
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1. Survey No : RH2019-01
* IMP : Intermediate Measurement Precision ( JCGM 200 : 2012, VIM 3rd ed. ； ISO 3534-2:2006 )
May 2006~December 2018
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Preventive Medicine Foundation, Taipei, Taiwan
updated : 25 Jan, 2019