Abstract • 100

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is associated with a range of clinical manifestations such as neonatal jaundice, acute hemolytic anemia and severe chronic hemolytic anemia. In this study we analyzed the effect of the (TA)7 polymorphism of the UGT1A promoter gene associated with Gilbert's Syndrome in G6PD 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 promoter polymorphism by means of PCR and acrylamide gel electrophoresis The increase of unconjugated bilirubin level during fabic crisis and its relationship with UGT1A polymorphism was evaluated.

The UGT1A (TA)7 TATA box variant was found in 9/44 (21%) of the G6PD deficient subjects examined. The median value for unit of increase of bilirubin (mg/dl)/unit 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 anemia. (Table)

Table 1 No caption available.
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