UGT1A1 polymorphism outweighs the modest effect of deletional (−3.7 kb) α-thalassemia on cholelithogenesis in sickle cell anemia - Université des Antilles Access content directly
Journal Articles American Journal of Hematology Year : 2006

UGT1A1 polymorphism outweighs the modest effect of deletional (−3.7 kb) α-thalassemia on cholelithogenesis in sickle cell anemia

Jean Pierre Diara
  • Function : Author
Vicky Chaar
  • Function : Author
Lysiane Kéclard
  • Function : Author
Maryse Etienne-Julan
  • Function : Author
Jean Pierre Diara
  • Function : Author
Jacques Elion
  • Function : Author
Rajagopal Krishnamoorthy
  • Function : Author
Marc Romana
  • Function : Author
  • PersonId : 1102553

Abstract

Enhanced erythrocyte destruction in sickle cell anemia results in chronic hyperbilirubinemia. Only a subset of patients develop cholelithiasis. UGT1A1 promoter polymorphism is associated both with unconjugated bilirubin level and elevated risk for cholelithiasis in such subset. Here, we investigated the role of alpha-thalassemia, yet another genetic factor that modulates hemolysis, in conferring protection from cholelithiasis. We show that, although alpha-thalassemia is associated with modest reduction in hemolysis and unconjugated bilirubin level, UGT1A1 polymorphism outweighs its effect on cholethiogenesis in sickle cell anemia patients.

Dates and versions

hal-03265334 , version 1 (23-06-2021)

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Cite

Jean Pierre Diara, Vicky Chaar, Lysiane Kéclard, Maryse Etienne-Julan, Jean Pierre Diara, et al.. UGT1A1 polymorphism outweighs the modest effect of deletional (−3.7 kb) α-thalassemia on cholelithogenesis in sickle cell anemia. American Journal of Hematology, 2006, 81 (5), pp.377-379. ⟨10.1002/ajh.20574⟩. ⟨hal-03265334⟩
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