A. Iolascon et al., Bilirubin levels in the acute hemolytic crisis of G6PD deficiency are related to Gilbert's syndrome, EUR J HAEMA, 62(5), 1999, pp. 307-310
In this study we analyzed the effect of the (TA)7 polymorphism of the UGT1A
gene associated with Gilbert's syndrome in GGPD-deficient subjects during
an acute hemolytic crisis (fabic crisis). DNA from 44 subjects originating
from the same geographic area in Sardinia was analyzed for the UGT1A promot
er polymorphism. The increase of unconjugated bilirubin level during fabic
crisis and its relationship with UGT1A polymorphism was evaluated. The UGT1
A (TA)7 TATA box variant was found in 9/44 (21%) of the G6PD deficient subj
ects examined. The median value for unit of increase of bilirubin (mg/dl)/u
nit of decrease of hemoglobin (g/dl) was higher in variant homozygous than
in heterozygous and normal subjects. These findings imply a contribution of
the UGT1A polymorphism associated to Gilbert's syndrome to development of
the hyperbilirubinemia in G6PD deficient subjects during acute hemolytic an
emia.