Eastern J Med. 2010; 15(4): 155-162

Genetic disorders associated with neonatal jaundice

Ichiro Morioka¹, Satoru Morikawa¹, Surini Yusoff², Noriyuki Nishimura¹, Naoki Yokoyama¹, Masafumi Matsuo¹, Hans Van Rostenberghe³, Hisahide Nishio^4
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Neonatal jaundice is very common in newborn infants. Although it is often a natural and transitional condition, some infants develop severe hyperbilirubinemia, in which unconjugated bilirubin in the serum may cross the blood-brain-barrier and cause bilirubin encephalopathy (acute bilirubin intoxication) or kernicterus (chronic bilirubin intoxication). To avoid these hazardous conditions, it is important to identify the infants at risk for developing severe hyperbilirubinemia. There are many genetic diseases that can cause or aggravate neonatal jaundice. Thus, the knowledge of the genetic diseases associated with neonatal jaundice may be essential for identification of the infants at highest risk. Here, we review neonatal jaundice and describe some genetic disorders associated with neonatal jaundice, such as bilirubin metabolism disorders, hemolytic disorders, bilirubin transport disorders, and others. It is desirable that rapid and accurate screening systems of genetic disorders should be developed for the proper management of neonatal hyperbilirubinemia.

Keywords: Neonatal jaundice, genetic factors, UGT1A1 gene, hemolytic disorders, transport molecules

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