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Neonatal cholestasis and glucose‐6‐P‐dehydrogenase deficiency
Author(s) -
Kordes Uwe,
Richter Andrea,
Santer Rene,
Schäfer Hansjörg,
Singer Dominique,
Sonntag Josef,
Steuerwald Ulrike,
Schneppenheim Reinhard,
Janka Gritta
Publication year - 2010
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.22390
Subject(s) - medicine , cholestasis , neonatal cholestasis , missense mutation , hemolytic anemia , jaundice , exon , bilirubin , gastroenterology , mutation , hemolytic disease of the newborn (abo) , progressive familial intrahepatic cholestasis , disease , unconjugated hyperbilirubinemia , gene , genetics , biliary atresia , pregnancy , biology , liver transplantation , fetus , transplantation
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. Pediatr Blood Cancer 2010;54:758–760. © 2010 Wiley‐Liss, Inc.