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• W2019930284 abstract "Simultaneous presence of hemolytic anemia and bilirubin UDP-glucuronosyltransferase deficiency is a possible cause of misdiagnosis. Seven-year-old and 17-year-old brothers and a 15-year-old sister consecutively suffered from aplastic crises. Although few spherocytes were present, the siblings and their mother had diagnoses of hereditary spherocytosis with flow cytometric analysis of eosin-5'-maleimide-labeled red blood cells in addition to osmotic fragility test. However, inappropriately high values of bilirubin compared with mild hemolysis persisted. Further analysis of UDP-glucuronyltransferase 1A1 revealed all 3 siblings were heterozygous for A(TA)7TAA-P229Q. We report here the importance of careful evaluation of mild hereditary spherocytosis masking UDP-glucuronyltransferase 1A1 deficiency." @default.
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• W2019930284 date "2009-02-01" @default.
• W2019930284 modified "2023-09-23" @default.
• W2019930284 title "Hereditary Spherocytosis in 3 Children Coexisting With UDP-glucuronyl Transferase 1A1 Deficiency" @default.
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• W2019930284 doi "https://doi.org/10.1097/mph.0b013e318190d9cf" @default.
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