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Hereditary Spherocytosis in 3 Children Coexisting With UDP-glucuronyl Transferase 1A1 Deficiency

Shiota, Mitsutaka MD, PhD*; Asada, Junko; Nishida, Hitoshi*; Kumakura, Akira*; Yoshioka, Takakazu MD*; Hata, Atsuko MD, PhD*; Watanabe, Ken MD, PhD*; Maruo, Yoshihiro MD, PhD; Kato, Junko§; Ideguchi, Hiroshi MD; Nakanishi, Hidekazu MD, PhD; Sugihara, Takashi MD, PhD; Hata, Daisuke MD, PhD*

Journal of Pediatric Hematology/Oncology: February 2009 - Volume 31 - Issue 2 - p 121-123
doi: 10.1097/MPH.0b013e318190d9cf
Clinical and Laboratory Observations

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:

Received for publication April 18, 2008; accepted October 2, 2008

© 2009 Lippincott Williams & Wilkins, Inc.