Gilbert syndrome associated with beta-thalassemia
| Autor: | Maria Tzetis, E. Kavazarakis, Vasilis Ladis, T. Georgakopoulou, Themistocles Karpathios, S. Kitsiou-Tzeli, Aspasia Tsezou, Emmanouel Kanavakis, E. Maragoudaki, E. Pateraki |
|---|---|
| Rok vydání: | 2002 |
| Předmět: |
Hemolytic anemia
medicine.medical_specialty Genotype Anemia Bilirubin Thalassemia DNA Mutational Analysis chemistry.chemical_compound Internal medicine Medicine Gilbert Disease Genetic Testing Glucuronosyltransferase Promoter Regions Genetic Greece business.industry beta-Thalassemia Beta thalassemia Hematology medicine.disease Endocrinology Hemoglobinopathy Oncology chemistry Case-Control Studies Pediatrics Perinatology and Child Health business |
| Zdroj: | Pediatric hematology and oncology. 18(8) |
| ISSN: | 0888-0018 |
| Popis: | The authors investigated whether the considerable variability in serum bilirubin levels (STB) found in transfusion-dependent beta-thalassemia, beta-thal intermedia, and heterozygous beta-thalassemia individuals could be related to the coexistence of Gilbert syndrome (GS). The promoter region [A(TA)nTAA] of the bilirubin UDP-glucuronosyltransferase gene (UGT1A1) was analyzed in a total of 128 beta-thalassemia individuals (108 transfusion-dependent beta-thal patients, 20 very mild beta-thal intermedia) and in 33 beta-thal heterozygotes. The control group consisted of 70 healthy children with no history of anemia. The frequency of GS genotype (TA)7/(TA)7 did not differ significantly between the groups studied. A significant difference was observed between serum bilirubin levels (STB) and GS genotypes (TA)7/(TA)7 and (TA)6/(TA)7 and also between (TA)7/(TA)7 and (TA)6/(TA)6 for all groups examined. These results confirm that the (TA)7/(TA)7 GS genotype is one of the factors accounting for the hyperbilirubinemia observed in beta-thalassemia major, intermedia, and heterozygous individuals. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|