Showing papers by "Maria Domenica Cappellini published in 1997"
TL;DR: Findings indicate that Gilbert's syndrome accounts for a large proportion of the variability of bilirubin levels in β‐thalassaemia and G6PD deficiency.
Abstract: We evaluated the effect of Gilbert's syndrome, the most common defect of bilirubin conjugation, on the bilirubin levels of subjects with inherited haematological disorders which cause increased bilirubin production. 57 patients heterozygous for beta-thalassaemia, 21 with G6PD deficiency and 44 controls were examined by typing the TATA-box in the promoter of the gene uridine diphosphate glucuronosyltransferase 1A. Nearly 80% of patients with increased bilirubin levels were heterozygous or homozygous for the UGT1A TA(7) variant associated with Gilbert's syndrome. These findings indicate that Gilbert's syndrome accounts for a large proportion of the variability of bilirubin levels in beta-thalassaemia and G6PD deficiency.
97 citations
TL;DR: The frequency and distribution of the most common G6PD variants in Italy are reported and greater molecular heterogeneity than described by others was observed, especially in Sardinia.
Abstract: BACKGROUND: Glucose-6-phosphate dehydrogenase deficiency, one of the most common human enzymatic defects, is characterized by extreme molecular and biochemical heterogeneity. The molecular bases of almost all polymorphic italian variants have now been identified and the overall heterogeneity is lower than expected from biochemical data. METHODS: We examined 161 G6PD-deficient subjects (130 males and 31 females) originating from different parts of Italy. G6PD activity and molecular characterization were determined in all the subjects analyzed. RESULTS: We found the G6PD Mediterranean genotype in roughly 70%, G6PD Union and G6PD Seattle in about 6% and G6PD A- in 4% of the samples analyzed. G6PD S. Antioco and G6PD Cosenza were less frequent (1.2%), and single cases of G6PD Partenope and G6PD Tokyo were also detected. CONCLUSIONS: We report the frequency and distribution of the most common G6PD variants in Italy. Greater molecular heterogeneity than described by others was observed, especially in Sardinia. Among the severe deficient variants, G6PD Mediterranean has a higher prevalence in Sardinia (83%) than in continental Italy (61%), as does G6PD Union (10% and 4%, respectively). G6PD Seattle and A-, associated with mild G6PD deficiency, are by contrast more frequent in continental Italy.
68 citations
TL;DR: HGV is highly prevalent among Italian polytransfused patients with transfusion‐dependent thalassaemia and no evidence of a clinically significant pathogenic role for HGV in liver disease could be found in these patients.
Abstract: The risk of polytransfused patients for hepatitis C virus (HCV) infection is likely to extend to another recently identified member of the Flaviviridae, hepatitis G virus (HGV). We investigated the prevalence of HGV in 40 adult Italian patients with transfusion-dependent thalassaemia and evaluated the clinical significance of HGV infection. HGV-RNA was detected in 9/40 patients (22.5%). HGV infection was significantly associated with HCV viraemia (P =0.0012), with all patients positive for HGV being also viraemic for HCV. Overall, the clinical picture of patients with HCV/HGV co-infection was not different from that of patients with isolated HCV. However, patients co-infected with both viruses had lower values of alanine-transferase (P =0035) and a lower titre of HCV viraemia (P =0042) in the absence of other evident factors which could influence the clinical expression of HCV infection. In conclusion, HGV is highly prevalent among Italian polytransfused patients. No evidence of a clinically significant pathogenic role for HGV in liver disease could be found in these patients. In a subset of cases a possible interference of HGV with HCV infection was observed.
15 citations