Chinese Medical E-ournals Database

Chinese Journal of Obstetrics & Gynecology and Pediatrics(Electronic Edition) ›› 2013, Vol. 09 ›› Issue (05): 696 -700. doi: 10.3877/cma.j.issn.1673-5250.2013.05.032

Special Issue:

Review

Current Status of Neonatal Screening of Glucose-6-Phosphate Dehydrogenase Deficiency

Hui-ying SHU1, Jie YU2, Xiao-Jing LI1()   

  1. 1. Department of Hematology, Chengdu Women's and Children's Central Hospital, Chengdu 610091, Sichuan Province, China
  • Received:2013-05-10 Revised:2013-09-13 Published:2013-10-01
  • Corresponding author: Xiao-Jing LI
  • About author:
    (Corresponding author: LI Xiao-Jing: )

Glucose-6-phosphate dehydrogenase (G6PD) deficiency, a hereditary predisposition to hemolysis, is one of the most common human enzyme defect disease. It is estimated to affect approximately 400 million people worldwide. The most frequent clinical manifestations of neonatal G6PD deficiency are neonatal jaundice, and acute haemolytic anaemia, which are usually triggered by an exogenous agent. Kernicterus is a serious contributor to newborn mortality and morbidity in G6PD deficient babies. It has proved that neonatal G6PD deficiency cloud be well controlled by the newborn screening and comprehensive prevention at home and abroad for decades. At present, several countries have successfully established screening programmes for neonatal G6PD deficiency, but some of the high incidence areas of this disease have not been carried out. This paper reviews the current status, necessity, feasibility, problems and solution paths of neonatal screening for G6PD deficiency.

表1 新生儿疾病筛查的纳入标准
Table 1 Criteria for newborn screening
表2 G6PD缺乏症患者慎用药物
Table 2 Drugs and chemicals to be avoided by persons with G6PD deficiency
表3 G6PD缺乏症患者需在安全剂量内使用的药物
Table 3 Drugs that probably can be safely given in normal therapeutic doses to G6PD-deficient patients without nonspherocytic hemolytic anemia
1
World Health Organization. Report of the Working Group-Glucose-6-Phosphate Dehydrogenase Deficiency[R]. Bull World Health Organ, 1989, 67: 601-611.
2
Joseph R, Ho LY, Gomez JM, et al. Mass newborn screening for glucose-6-phosphate dehydrogenase deficiency in Singapore[J]. Southeast Asian J Trop Med Public Health, 1999, 30(Suppl 2): 70-71.
3
Johnson LH, Bhutani VK, Brown AK. System-based approach to management of neonatal jaundice and prevention of kernicterus[J]. J Pediatr, 2002, 140(4): 396-403.
4
Nussbaum RL, McInnes RR, Willard HF. Thompson and Thompson Genetics in Medicine. 6th ed[M]. Philadelphia: WB Saunders Company, 391-398.
5
World Health Organization. The estimating cost of scaling up maternal and newborn health interventions to reach universal coverage: Methodology and assumptions[R]. Geneva: Department of Making Pregnancy Safer and Health Systems Financing, World Health Organization, 2005.
6
Nkhoma ET, Poole C, Vannappagari V, et al. The global prevalence of glucose-6-phosphate dehydrogenase deficiency: A systematic review and meta-analysis[J]. Blood Cells Mol Dis, 2009, 42(3): 267-278.
7
Celik HT, Gunbey C, Unal S, et al. Glucose-6-phosphate dehydrogenase deficiency in neonatal hyperbilirubinaemia: Hacettepe experience[J]. J Paediatr Child Health,2013, 49(5):399-402.
8
Lim HH, Daniel LM, Lee J, et al. Predicting significant hyperbilirubinaemia and early discharge for glucose-6-phosphate dehydrogenase deficient newborns[J]. Ann Acad Med Singapore, 2003, 32(2): 257-261.
9
Joseph R, Ho LY, Gomez JM, et al. Mass newborn screening for glucose-6-phosphate dehydrogenase deficiency in Singapore[J]. Southeast Asian J Trop Med Public Health, 1999, 30 Suppl 2: 70-71.
10
Meloni T, Forteleoni G, Meloni GF. Marked decline of favism after neonatal glucose-6-phosphate dehydrogenase screening and health education: The northern Sardinian experience[J]. Acta Haematol, 1992, 87(1-2): 29-31.
11
Missiou-Tsagaraki S. Screening for glucose-6-phosphate dehydrogenase deficiency as a preventive measure: Prevalence among 1,286,000 Greek newborn infants[J]. J Pediatr, 1991, 119(2): 293-299.
12
Du CS. Review and outlook of glucose-6-phosphate dehydrogenase deficiency over the past 40 years[J]. Chin J Hematol, 2000, 21(4): 174.
13
Lam ST, Cheng ML. Neonatal screening in Hong Kong and Macau[J]. Southeast Asian J Trop Med Public Health, 2003, 34 Suppl 3: 73-75.
14
Chiang SH, Wu SJ, Wu KF, et al. Neonatal screening for glucose-6-phosphate dehydrogenase deficiency in Taiwan[J]. Southeast Asian J Trop Med Public Health, 1999, 30 Suppl 2: 72-74.
15
Joseph R, Ho LY, Gomez JM, et al. Newborn screening in Singapore[J]. Southeast Asian J Trop Med Public Health, 1999, 30(Suppl 2): 23-24.
16
Frank JE. Diagnosis and management of G6PD deficiency[J]. Am Fam Physician, 2005, 72(7): 1277-1282.
17
Jiang JH, Li B, Cao WF, et al. Newborn screening and treatment of glucose-6-phosphate dehydrogenase deficiency in Guangzhou[J]. Guangdong Med J, 2009, 30(9): 1219- 1220.
18
Padilla CD, Therrell BL. Newborn screening in the Asia Pacific region[J]. J Inherit Metab Dis, 2007, 30(4): 490-506.
19
Standardization of procedures for the study of glucose-6-phosphate dehydrogenase. Report of a WHO Scientific Group[R]. World Health Organ Tech Rep Ser, 1967, 366: 1-53.
20
Beutler E, Blume KG, Kaplan JC, et al. International Committee for Standardization in Haematology: Recommended methods for red-cell enzyme analysis[J]. Br J Haematol, 1977,35(2): 331-340.
21
Dern RJ. A new hereditary quantitative variant of glucose-6-phosphate dehydrogenase characterized by a marked increase in enzyme activity[J]. J Lab Clin Med, 1966, 68(4): 560-565.
22
Ge YF. The investigation of experimental optimizion of G6PD/6PGD direct ratio enzymic activity method[R]. Guangzhou Med Coll: Immunol, 2009.
23
Du C, Ren X, Jiang Y. Detection of three common G6PD gene point mutations in Guangdong province by using ARMS[J]. Zhonghua Xue Ye Xue Za Zhi, 1999, 20(4): 191-193.
24
Lam VM, Huang W, Lam ST, et al. Rapid detection of common Chinese glucose-6-phosphate dehydrogenase (G6PD) mutations by denaturing gradient gel electrophoresis (DGGE)[J]. Genet Anal, 1996, 12(5-6): 201-206.
25
Tseng CP, Huang CL, Chong KY, et al. Rapid detection of glucose-6-phosphate dehydrogenase genemutations by denaturing high-performance liquid chromatography[J]. Clin Biochem,2005,38:973-980.
26
Beutler E. Hemolytic anemia in disorders of red cell metabolism[M]. Michigan: Plenum Medical Book Co., 1978.
27
Beutler E. Disorders of red cells resulting from enzyme abnormalities// William's Hematology. 7th ed[M]. New York: McGraw-Hill Professional, 2006, 603-631.
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