Diagnosis of the clinical polymorphism of glucose-6-phosphate dehydrogenase deficiency in patients with hyperbilirubinemia
Abstract
Two Azerbaijani families were examined to determine the nature of neonatal hyperbilirubinemia. Blood samples from neonatal infants with jaundice, their siblings, and parents were an object of this investigation. The pedigrees of the probands were compiled and analyzed. The levels of hemoglobin, red blood cells, and bilirubin and the activity of glucose-6-phosphate dehydrogenase (G6PD) were determined; DNA sequencing of the G6PD gene was carried out. The probands were found to have G6PD deficiency and to be hemizygous for this gene. In probands’ families, the parents and siblings were also established to be homozygous, heterozygous, and hemizygous. The examined families showed two Mediterranean G6PD gene variants: c.563 C>T and c.1311 C>T, which influenced the clinical polymorphism of G6PD deficiency. The determination of total and conjugated bilirubin levels and G6PD activity in newborn infants may reduce the severe consequences of hyperbilirubinemia and prevent the risk of irreversible neurological disorders caused by jaundice.
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Review
For citations:
Akperova G.A. Diagnosis of the clinical polymorphism of glucose-6-phosphate dehydrogenase deficiency in patients with hyperbilirubinemia. Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics). 2015;60(3):67-70. (In Russ.)
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