Neonatal Screening for G6PD Deficiency in Mazandaran Province, Iran 2007-2010

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common disease of the hexose monophosphate pathway existing in more than 400 million people worldwide. The aim of this study was to identify neonates with G6PD deficiency following national program for screening and education of affected newborns’ parents started since June 2007 in Mazandaran, a northern Province of Iran. Blood sampling was performed via a heel prick prepared for screening of congenital hypothyroidism, Phenylketonuria, and G6PD deficiency. Fluorescent spot test kit set by Kimia Pajohan Company (Iran) was used. A confirmatory test with a venous blood sample was done within 4th month of age according to the protocol. The second enzyme activity test was a quantitative photometric method using a commercially available kit (Randox, U.K.) with sensitivity of 154 IU and normal range of 6.97- 20.5 U/gHb. Data were analyzed using SPSS software version 16 and descriptive methods. During 36 months, 115622 newborns (51.4 % male) were studied. G6PD enzyme deficiency was found in 6.1% of the newborns (CI95%= 5.92-6.28%). As expected, male/female ratio of affected newborns was 6.19:1. Of confirmed affected infants in second enzyme activity test, 86.1% were male and 13.9% were female. The reported rate of G6PD enzyme deficiency was less than expected (12-13%). We strongly recommend continuing screening and education of parents and also mass media education against consuming “Fava bean” and “Naphtalen”.