Role of c-3279T>G mutation in the UGT1A1 promoter in the development of neonatal unexplained indirect hyperbilirubinemia

Tomerak RH, Helal NF, Shaker OG, Yousef MA

• Background: neonatal hyperbilirubinemia is a common presentation, yet the diagnosis is not reached in many cases

• Aim of work: to investigate the association between c-

3279T>G mutation and unexplained indirect hyperbilirubinemia

• Subjects and methods: Cases: 63 jaundiced newborns with GA> 36 weeks having

unexplained, indirect hyperbilirubinemia necessitating treatment.

Control: 78 age and gender matched neonates with TSB < 7 mg / dl

• Conclusion: Homozygos c.-3279T>G mutation represents an important risk factor for the development of neonatal jaundice and its presence is associated with high bilirubin levels with its severe consequences.