OBJECTIVES: Aim of this study was to evaluate prevalence and characteristics of cholelithiasis in a large population of patients with thalassemia major (TM). METHODS: Data from 858 consecutive patients with transfusion-dependent thalassemia at five major Italian centers were analyzed. In these centers, a complete abdomen ultrasonography is performed yearly after the beginning of the transfusion regimen. The role of co-inheriting Gilbert's syndrome genotype was investigated studying the promoter region of the UGT1-A1 gene by automated sequencing. RESULTS: Thirty percent of TM patients had gallstones. The Gilbert's genotype [homozygosity for (TA)(7) motif at UGT1A promoter gene], influenced both the prevalence of cholelithiasis and the age at which it developed. CONCLUSIONS: Cholelithiasis has a remarkable frequency and precocity in patients with TM and especially in those with (TA)(7)/(TA)(7) UGT1-A1 genotype. An early biliary ultrasonography is recommended from childhood and a closer follow-up in patients with thalassemia and associated Gilbert's syndrome may be indicated.
OBJECTIVES: Aim of this study was to evaluate prevalence and characteristics of cholelithiasis in a large population of patients with thalassemia major (TM). METHODS: Data from 858 consecutive patients with transfusion-dependent thalassemia at five major Italian centers were analyzed. In these centers, a complete abdomen ultrasonography is performed yearly after the beginning of the transfusion regimen. The role of co-inheriting Gilbert's syndrome genotype was investigated studying the promoter region of the UGT1-A1 gene by automated sequencing. RESULTS: Thirty percent of TM patients had gallstones. The Gilbert's genotype [homozygosity for (TA)(7) motif at UGT1A promoter gene], influenced both the prevalence of cholelithiasis and the age at which it developed. CONCLUSIONS:Cholelithiasis has a remarkable frequency and precocity in patients with TM and especially in those with (TA)(7)/(TA)(7) UGT1-A1 genotype. An early biliary ultrasonography is recommended from childhood and a closer follow-up in patients with thalassemia and associated Gilbert's syndrome may be indicated.
Authors: Serena Sanna; Fabio Busonero; Andrea Maschio; Patrick F McArdle; Gianluca Usala; Mariano Dei; Sandra Lai; Antonella Mulas; Maria Grazia Piras; Lucia Perseu; Marco Masala; Mara Marongiu; Laura Crisponi; Silvia Naitza; Renzo Galanello; Gonçalo R Abecasis; Alan R Shuldiner; David Schlessinger; Antonio Cao; Manuela Uda Journal: Hum Mol Genet Date: 2009-05-06 Impact factor: 6.150
Authors: Vincenzo De Sanctis; Ashraf T Soliman; Heba Elsedfy; Alice Albu; Soad Al Jaouni; Salvatore Anastasi; Maria Grazia Bisconte; Duran Canatan; Soteroula Christou; Shahina Daar; Salvatore Di Maio; Mohamed El Kholy; Doaa Khater; Mohamed Elshinawy; Yurdanur Kilinc; Roberto Mattei; Hala H Mosli; Alessandra Quota; Maria Grazia Roberti; Praveen Sobti; Saif Al Yaarubi; Saveria Canpisi; Christos Kattamis Journal: Mediterr J Hematol Infect Dis Date: 2017-01-01 Impact factor: 2.576