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• Association of multiple risk factors for neonatal jaundice
  Hans L Van Rostenberghe
  Published on: 27 April 2016

• Published on: 27 April 2016

  Association of multiple risk factors for neonatal jaundice

  • Hans L Van Rostenberghe, Neonatologist
  • Other Contributors:
    • Surini Yusoff, Narazah Yusoff, and Hishahide Nishio

  Dear Editor

  In accordance with the findings reported by Kadakol et al. (1) we found in a population study,(2) done in Malays, two cases of neonatal jaundice (NNJ)with a combination of a mutation in the encoding region of the UGT1A1 gene and the classical Gilbert syndrome mutation.

  These two patients had severe early onset NNJ, only slowly responding to intensive phototherapy. Both babies had a normal G...

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  Dear Editor

  In accordance with the findings reported by Kadakol et al. (1) we found in a population study,(2) done in Malays, two cases of neonatal jaundice (NNJ)with a combination of a mutation in the encoding region of the UGT1A1 gene and the classical Gilbert syndrome mutation.

  These two patients had severe early onset NNJ, only slowly responding to intensive phototherapy. Both babies had a normal G6PD status and were feeding well. Their respective mothers had each blood group O positive and each baby had blood group B positive with a negative direct Coombs test. Liver tests other than bilirubin levels were normal. Three mutations in the UGT1A1 gene were tested (the A(TA)7TAA mutation, the G71R mutation which is commonly causing Gilbert Syndrome in Taiwanese and Japanese and the G493R mutation which was recently found in 2 related Malay patients with NNJ)(2). Each baby was found to have two mutations: the A(TA)7TAA mutation and the G71R mutation. None had the G493R mutation.

  The cases reported here underline the importance of the findings reported by Kadakol et al.(1). The two patients would have been labeled as having ABO-incompatibility if the genetic testing would have not been performed. Especially in Southeast Asian populations where the incidence of neonatal jaundice is very high, routine screening for mutations in the UGT1A1 gene may be useful. It may help in genetic counseling of the parents and in prevention of kernicterus in coutries with an early neonatal discharge policy.

  References: 1. Kadakol A, Sappal BS, Ghosh SS, Lowenheim M, Chowdhury A, Chowdhury S, Santra A, Arias IM, Chowdhury JR, and Chowdhury NR. Interaction of coding region mutations and the Gilbert-type promoter abnormality of the UGT1A1 gene causes moderate degrees of unconjugated hyperbilirubinaemia and may lead to neonatal kernicterus. J Med Genet 2001; 38: 244-249

  2.Yusoff S, Van Rostenberghe H, Yusoff NM, Talib NA, Ramli N, Ismail NZ, Ismail WP, Matsuo M, Nishio H. Frequencies of A(TA)(7)TAA, G71R, and G493R Mutations of the UGT1A1 Gene in the Malaysian Population. Biol Neonate. 2005 Oct 6;89(3):171-176 [Epub ahead of print]

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  Conflict of Interest:
  None declared.

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