Screening for glucose-6-phosphate dehydrogenase deficiency in neonates: a comparison between cord and peripheral blood samples

Autor: Saif AlSaif, Ma. Bella Ponferrada, Khalid AlKhairy, Khalil AlTawil, Adel Sallam, Ibrahim Ahmed, Mohammed Khawaji, Khalid AlHathlol, Beverly Baylon, Ahmed AlSuhaibani, Mohammed AlBalwi
Jazyk: angličtina
Rok vydání: 2017
Předmět:
Zdroj: BMC Pediatrics, Vol 17, Iss 1, Pp 1-6 (2017)
Druh dokumentu: article
ISSN: 1471-2431
DOI: 10.1186/s12887-017-0912-y
Popis: Abstract Background The use of cord blood in the neonatal screening for glucose-6-phosphate dehydrogenase (G6PD) deficiency is being done with increasing frequency but has yet to be adequately evaluated against the use of peripheral blood sample which is usually employed for confirmation. We sought to determine the incidence and gender distribution of G6PD deficiency, and compare the results of cord against peripheral blood in identifying G6PD DEFICIENCY neonates using quantitative enzyme activity assay. Methods We carried out a retrospective and cross-sectional study employing review of primary hospital data of neonates born in a tertiary care center from January to December 2008. Results Among the 8139 neonates with cord blood G6PD assays, an overall incidence of 2% for G6PD deficiency was computed. 79% of these were males and 21% were females with significantly more deficient males (p
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