Hereditary spherocytosis in 3 children coexisting with UDP-glucuronyl transferase 1A1 deficiency.
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.
Shiota
Mitsutaka
M
Department of Pediatrics, Kitano Hospital, Tazuke Kofukai, Medical Research Institute, Osaka, Japan. mi-shiota@kitano-hp.or.jp
Asada
Junko
J
Nishida
Hitoshi
H
Kumakura
Akira
A
Yoshioka
Takakazu
T
Hata
Atsuko
A
Watanabe
Ken
K
Maruo
Yoshihiro
Y
Kato
Junko
J
Ideguchi
Hiroshi
H
Nakanishi
Hidekazu
H
Sugihara
Takashi
T
Hata
Daisuke
D
D000293:Adolescent; D001663:Bilirubin / Q000032:analysis; D002239:Carbohydrate Metabolism, Inborn Errors / Q000175:diagnosis / Q000235:genetics; D002648:Child; D003937:Diagnosis, Differential; D003951:Diagnostic Errors; D005192:Family Health; D005964:Glucosyltransferases / Q000172:deficiency* / Q000235:genetics; D014453:Glucuronosyltransferase; D006461:Hemolysis; D006801:Humans; D009154:Mutation; D013103:Spherocytosis, Hereditary / Q000175:diagnosis*
D005964:Glucosyltransferases; D014453:Glucuronosyltransferase; C049577:alpha-1,4-glucan-protein synthase (UDP-forming); D001663:Bilirubin