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- Title
Bilirubin concentrations in thalassemia heterozygotes in university students.
- Authors
Huang, Yang-Yang; Huang, May-Jen; Wang, Hai-Lung; Chan, Cung-Cuan; Huang, Ching-Shan
- Abstract
To investigate the difference of bilirubin concentrations between α- and β-thalassemia carriers and the role of variation status in the UDP-glucuronosyltransferase (UGT) 1A1 gene on such a difference. A total of 2713 university freshmen who attended a regular physical examination were enrolled in underwent screenings for thalassemias. Finally, 123 subjects whose mean corpuscular volume was ≤80 fL and who had no iron deficiency anemia were tested by PCR and PCR-restriction fragment length polymorphism (RFLP) for α- and β-thalassemias, respectively, and tested by PCR-RFLP for the five known variations of the UGT1A1 gene. Among the 123 subjects, 76 and 47 were diagnosed with heterozygous α-thalassemia and with heterozygous β-thalassemia, respectively. Between the α- and β-thalassemia heterozygotes, variation status of the UGT1A1 gene was not statistically different ( P = 0.898), while hemoglobin and bilirubin concentrations differed significantly ( P = 0.005 and 0.001, respectively). Bilirubin concentrations were significantly higher among individuals with compound heterozygous variations/homozygous variation in the UGT1A1 gene than in those possessing the wild type and heterozygous variation ( P < 0.001 for both α- and β-thalassemia heterozygotes). Compound heterozygous variations/homozygous variation in the UGT1A1 gene and anemia were the main causes of hyperbilirubinemia in α- and β-thalassemia heterozygotes, respectively. The difference in bilirubin concentrations between α- and β-thalassemia heterozygotes may be attributable to more bilirubin being produced in β-thalassemia heterozygotes than in α-thalassemia heterozygotes, while variation status of the UGT1A1 gene affects bilirubin concentrations in both α- and β-thalassemia heterozygotes.
- Subjects
BILIRUBIN; THALASSEMIA; GENETIC carriers; COLLEGE students; GLUCURONOSYLTRANSFERASE; IRON deficiency anemia; HEMOGLOBINS; DISEASES
- Publication
European Journal of Haematology, 2011, Vol 86, Issue 4, p317
- ISSN
0902-4441
- Publication type
Article
- DOI
10.1111/j.1600-0609.2011.01578.x