Abstract
We report a Caucasian neonate with chronic non-spherocytic hemolytic anemia due to a class I G6PD deficiency. A novel mutation missense mutation in exon eight of the G6PD gene was detected (c.827C>T p.Pro276Leu). Bilirubin peaked on day 5 at 24 mg/dl with a conjugated bilirubin of 17 mg/dl. Jaundice resolved within 4 weeks. A detailed work-up failed to reveal other specific factors contributing to cholestasis. Severe hemolytic disease of the newborn may cause cholestasis even in the absence of associated primary hepato-biliary disease.
MeSH terms
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Anemia, Hemolytic, Congenital Nonspherocytic / complications*
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Anemia, Hemolytic, Congenital Nonspherocytic / genetics
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Anemia, Hemolytic, Congenital Nonspherocytic / pathology
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Cholestasis / etiology*
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Cholestasis / pathology
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Glucosephosphate Dehydrogenase Deficiency / complications*
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Glucosephosphate Dehydrogenase Deficiency / genetics
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Glucosephosphate Dehydrogenase Deficiency / pathology
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Humans
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Infant, Newborn
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Infant, Premature*
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Jaundice, Neonatal / etiology*
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Jaundice, Neonatal / pathology
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Kernicterus / complications*
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Kernicterus / genetics
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Kernicterus / pathology
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Male
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Mutation, Missense*