GLUCOSE-6-PHOSPHATE DEHYDROGENASE DEFICIENCY AND GILBERT SYNDROME A Gene Interaction Underlies Severe Jaundice Without Severe Hemolysis

• Published in: Pediatric hematology and oncology Vol. 22; no. 7; pp. 561 - 566
• Main Authors: Nicolaidou, P., Kostaridou, S., Mavri, A., Galla, A., Kitsiou, S., Stamoulakatou, A.
• Format: Journal Article
• Language: English
• Published: England Taylor & Francis 01.10.2005
• Subjects: Bilirubin - blood; Child; children; Gilbert Disease - blood; Gilbert Disease - complications; Gilbert Disease - genetics; Gilbert syndrome; glucose-6-phosphate dehydrogenase deficiency; Glucosephosphate Dehydrogenase - genetics; Glucosephosphate Dehydrogenase Deficiency - blood; Glucosephosphate Dehydrogenase Deficiency - complications; Glucosephosphate Dehydrogenase Deficiency - genetics; Hemoglobins - analysis; hemolysis; Hemolysis - genetics; Humans; hyperbilirubinemia; Jaundice - blood; Jaundice - complications; Jaundice - genetics; Male; Reticulocyte Count
• ISSN: 0888-0018; 1521-0669
• DOI: 10.1080/08880010500198533

The authors describe the paradoxical clinical phenotype of an undetected severe hemolysis in parallel with the development of severe jaundice in a 13-year-old male suffering from a confirmed interaction of glucose-6-phosphate dehydrogenase deficiency (Mediterranean variant, 563 C/T) and Gilbert syndrome [variant (TA)7/(TA)7]. The child had 2 acute hemolytic episodes at the age of 10 and 13 years following infections of unknown origin. Both episodes were characterized by considerably high bilirubin levels (1st episode: 10.8 mg/dL, 2nd episode: 17.8 mg/dL) associated with unexpectably mild hemolysis indices (1st episode hemoglobin levels, 11.1 g/dL; reticulocyte counts, 2.5%; 2nd episode hemoglobin values, 12.7 g/dL; reticulocyte counts, 2.5%). During the steady-state condition of the child, hemoglobin values were within the normal ranges for his age (14.2 g/dL) and bilirubin levels were slightly elevated (1.70 mg/dL, indirect 1.5 mg/dL). The interaction of the two genetic abnormalities in the causation of this odd clinical phenotype is discussed.