TY - JOUR
TI - Gilbert syndrome associated with beta-thalassemia
AU - Tzetis, M
AU - Kanavakis, E
AU - Tsezou, A
AU - Ladis, V
AU - Pateraki, E
AU - and Georgakopoulou, T
AU - Kavazarakis, E
AU - Maragoudaki, E and
AU - Karpathios, T
AU - Kitsiou-Tzeli, S
JO - Pediatric Hematology and Oncology
PY - 2001
VL - 18
TODO - 8
SP - 477-484
PB - Taylor and Francis Inc.
SN - 0888-0018, 1521-0669
TODO - 10.1080/088800101753328439
TODO - beta-thal heterozygotes; beta-thal intermedia; Gilbert syndrome;
hyperbilirubinemia; transfusion-dependent; beta-thalassemia
TODO - 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)(n) TAA] 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 si 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) CS genotype is one of the
factors accounting for the hyperbilirubinemia observed in beta
-thalassemia major intermedia, and heterozygous individuals.
ER -