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Newborn screening for glucose-6-phosphate dehydrogenase deficiency in Isfahan, Iran: a quantitative assay
Ramin Iranpour1, Mahin Hashemipour, Seyed-Mojtaba Talaei
1Department of Pediatrics, Al-Zahra Hospital, Isfahan University of Medical Sciences, Sofe Bolvar, 8174675731 Isfahan, Iran. iranpour@med.mui.ac.ir
Insights
Glucose-6-phosphate dehydrogenase (G6PD) deficiency affects 3.2% of newborns in Isfahan, Iran, with higher prevalence in males. Routine neonatal screening for G6PD deficiency is recommended.
Area of Science:
- Medical Genetics
- Neonatal Screening
- Public Health
Background:
- Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an inherited condition affecting red blood cells.
- Prevalence varies geographically, necessitating local epidemiological data for effective screening programs.
- G6PD deficiency can lead to hemolytic anemia, particularly upon exposure to certain triggers.
Purpose of the Study:
- To determine the prevalence of glucose-6-phosphate dehydrogenase (G6PD) deficiency in newborns in Isfahan, Iran.
- To provide data supporting the implementation of routine neonatal screening for G6PD deficiency in the region.
Main Methods:
- Quantitative measurement of G6PD activity using an enzymatic colorimetric assay.
- Screening of 2501 neonates (3-7 days old) from 17 delivery units in Isfahan.
- Definition of G6PD deficiency as enzyme activity < 6.4 U/gHb.
Main Results:
- Overall prevalence of G6PD deficiency was 3.2% (79 out of 2501 neonates).
- Higher incidence in males (5.1%) compared to females (1%), with a female:male ratio of 1:5.5.
- Mean enzyme activity in deficient neonates was 3.22 +/- 1.8 U/gHb.
Conclusions:
- The prevalence of G6PD deficiency in Isfahan necessitates routine neonatal screening.
- Findings align with World Health Organization recommendations for G6PD deficiency screening.
- Data supports the public health strategy for managing G6PD deficiency in Iran.
Objectives:
To determine the prevalence of glucose-6-phosphate dehydrogenase (G6PD) deficiency in Isfahan, the central state of Iran.
Methods:
From February to March 2006, a total of 2501 samples were screened for the quantitative measurement of G6PD activity by enzymatic colorimetric assay by a commercial kit (GAMMA, Belgium). The neonates were referred from 17 delivery units to the Isfahan neonatal screening center at 3-7 days after birth. Any neonate with a value < 6.4 U/gHb was considered G6PD deficient.
Results:
Of the 2501 newborns (1307 males, 1194 females) screened, 79 neonates were found to have G6PD deficiency (67 males, 12 females). The overall incidence of G6PD deficiency was 3.2%. Frequency in male population was 5.1 % (67 out of 1307 male neonates) and in female population was 1% (12 out of 1194 female neonates).The female:male ratio was 1:5.5 (P = 0.0001). The mean enzyme activity in deficient patients was 3.22 +/- 1.8 U/gHb (male deficient group; 3.17 +/- 1.74 U/gHb, female deficient group; 3.49 +/- 2.17 U/gHb, P = 0.58).
Conclusion:
Routine neonatal screening in Isfahan, Iran with a relatively high prevalence of G6PD deficiency is justified and meets the World Health Organization recommendation.
