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.
*Department of Pediatrics, Kitano Hospital, the Tazuke Kofukai, Medical Research Institute
†Department of Pediatrics, Kyoto-Katsura Hospital
‡Department of Pediatrics, Shiga University Medical Science
§Department of Laboratory Medicine; ∥Department of Blood Transfusion, Fukuoka University School of Medicine
¶Division of Hematology, Department of Medicine, Kawasaki Medical School, Japan
Mitsutaka Shiota and Junko Asada contributed equally to this work.
Reprints: Mitsutaka Shiota, MD, PhD, Department of Pediatrics, Kitano Hospital, the Tazuke Kofukai, Medical Research Institute, Osaka, Japan (e-mail: firstname.lastname@example.org).
Received for publication April 18, 2008; accepted October 2, 2008