Association between promoter and coding region mutations of UDP‐glucuronosyltransferase 1A1 and β‐thalassemia/Hb E with cholelithiasis

Abstract

This study shows that the combined TATA-box variants and G71R mutations of the UGT1A1 is associated with cholelithiasis in beta-thal/Hb E.

Bilirubin concentrations in thalassemia heterozygotes in university students

“…The incidence of thalassemia is very high in some east Asian populations, such as in Thailand, about 40% have thalassemia traits or are carriers (27). The frequency of variation at nucleotide 211, the major variant site within the coding region of the UGT1A1 gene in Asians, is lower in Thailand (17%) than in Taiwanese (23%) (28). Thus, the study of the relationship between bilirubin concentrations and UGT1A1 gene status is more important for Taiwanese thalassemia carriers and Thailand thalassemia carriers than for Japanese thalassemia carriers.…”

Hb H disease: clinical course and disease modifiers

“…In βthalassemia disease, considerable effort has been put into a search for the "holy grail" of disease modifying genes, particularly quantitative trait locus (QTL) linked to a high propensity for postnatal γ globin gene expression; however, little progress has been made in the search for genetic modifiers in Hb H. Most studies in Hb H disease follow in the footsteps of those in β-thalassemia, such as the role of the HFE polymorphism [25][26][27] and the UGT1 variants on the risk of hyperbilirubinemia and gallstone development. [28][29][30] However, such studies have not shed any light on understanding the complicated genotype-phenotype correlation, particularly in cases with non-deletional Hb H disease. In clinical practice, these studies merely suggest the risk of possible related complications with little clinical application.…”