Gilbert syndrome associated with beta-thalassemia.
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.
Tzetis
M
M
Medical Genetics, University of Athens, Aghia Sophia Children's Hospital, Greece.
Kanavakis
E
E
Tsezou
A
A
Ladis
V
V
Pateraki
E
E
Georgakopoulou
T
T
Kavazarakis
E
E
Maragoudaki
E
E
Karpathios
T
T
Kitsiou-Tzeli
S
S
D001663:Bilirubin / Q000097:blood; D016022:Case-Control Studies; D004252:DNA Mutational Analysis; D005820:Genetic Testing; D005838:Genotype; D005878:Gilbert Disease / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D014453:Glucuronosyltransferase / Q000235:genetics; D006115:Greece / Q000453:epidemiology; D011401:Promoter Regions, Genetic / Q000235:genetics; D017086:beta-Thalassemia / Q000150:complications*
D014453:Glucuronosyltransferase; D001663:Bilirubin