Glucose 6 phosphate activity, structure, molecular property and effect on neonatal hyperbilirubinemia in cord blood in Çukurova region

The most common factors in etiology of the neonatal hyperbilirubinemia are blood group incompatibility and erythrocyte enzyme defects. The incidance of glucose 6 phosphate dehydrogenase deficiency in Çukurova region was 10-11, 5% in the former reports. Hemolytic anemia caused by medications and infections and neonatal hyperbilirubinemia are the main pathologies related to G6PD deficiency. Kinetic studies demonstrated a tendency to severe hyperbilirubinemia in G6PD deficient neonates. Gd Mediterranean, a common mutation in white race native to Mediterranean region, has a normal motility in electrophoretic studies and presents 0-10% activity. The aim of this study is to demonstrate the effect of variations in the enzyme kinetics and mutations on the neonatal hyperbilirubinemia in the G6PD deficient patients, the role of kinetic variations on the severity of neonatal hyperbilirubinemia and the glucose 6 phosphate dehydrogenase variations in Çukurova Region.200 healthy term male neonates born at Çukurova University Balcalı Hospital, Adana Meydan Maternity Hospital, Çukurova Maternity and Children Hospital between1 November 2004-30 November 2007 were enrolled in this study. The female neonates were not involved in this study because the enzyme is inherited X linked recessive, enzyme activity shows great difference in heterozygote females and the probability of failure to diagnose the enzyme deficient females with this scanning tests. In addition, premature infants, with congenital malformations, meconium aspiration, perinatal asphyxia due to arterial blood gases results at the first hour of life, small neonates for gestational age are excluded in this study. In the laboratory G6PD levels evaluated from blood specimens. Kinetic studies are done in the enzyme deficient neonates. Also DNA of these neonates are purified and molecular studies performed.Blood groups of the neonates and the mothers, complete blood count, direct coombs, total bilirubin, direct bilirubin levels, reticulocyte counts of the enzyme deficient neonates evaluated. Total bilirubin, direct bilirubin and hemotocrit levels of the neonates were followed in 3rd, 5th, 7th, 10th and 15th days of life from capillary blood. Phototherapy or blood exchange performed according to the American Academy of the Pediatrics protocol for hyperbilirubinemia.Enzyme deficiency was detected in six out of 200 neonates (3%). Gd Med mutation was being detected in three enzyme deficient neonates. Two of these three enzyme deficient neonates had increased bilirubin levels needed for treatment, but one of neonates did not need treatment because of lower bilirubin levels. It is supposed that kinetic variation can play role in this different clinical progress. One of three enzyme deficient neonates without mutation had severe hyperbilirubinemia and blood exchange was being performed. Two of the neonates without mutation did not need any treatment for hyperbilirubinemia. Hemolysis is diagnosed in none of the enzyme deficient neonates. More studies about this subject for mutation analysis in a larger population is needed.