neonatal hyperbilirubinemia in infants with g6pd c.563c tvariant在婴儿新生儿高胆红素血g6pd c。.pdfVIP

Moiz et al. BMC Pediatrics 2012, 12:126 /1471-2431/12/126 RESEARCH ARTICLE Open Access Neonatal Hyperbilirubinemia in infants with G6PD c.563C T Variant 1* 1 2 2 3 Bushra Moiz , Amna Nasir , Sarosh Ahmed Khan , Salima Amin Kherani and Maqbool Qadir Abstract Background: There is a strong correlation between glucose-6-phosphate dehydrogenase (G6PD) deficiency and neonatal hyperbilirubinemia with a rare but potential threat of devastating acute bilirubin encephalopathy. G6PD deficiency was observed in 4– 14% of hospitalized icteric neonates in Pakistan. G6PD c.563C T is the most frequently reported variant in this population. The present study was aimed at evaluating the time to onset of hyperbilirubinemia and the postnatal bilirubin trajectory in infants having G6PD c.563C T. Methods: This was a case–control study conducted at The Aga Khan University, Pakistan during the year 2008. We studied 216 icteric male neonates who were re-admitted for phototherapy during the study period. No selection was exercised. Medical records showed that 32 were G6PD deficient while 184 were G6PD normal. Each infant was studied for birth weight, gestational age, age at the time of presentation, presence of cephalhematoma, sepsis and neurological signs, peak bilirubin level, age at peak bilirubin level, days of hospitalization, whether phototherapy or exchange blood transfusion was initiated, and the outcome. During hospital stay, each baby was tested for complete blood count, reticulocyte count, ABO and Rh blood type, direct antiglobulin test and quantitative G6PD estimation [by kinetic determination of G6PDH]. G6PDgenotype was analyzed in 32 deficient infants through PCR-RFLP analysis and gene sequenc