Sickle Cell Anemia Research Today is a free monthly online journal that collates and summarizes the latest research about Sickle Cell Anemia, including details on genetics, causes, symptoms.

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

Chaar V, Kéclard L, Etienne-Julan M, Diara JP, Elion J, Krishnamoorthy R, Romana M

UMR S-458 INSERM/Université des Antilles et de la Guyane, CHU de Pointe-à-Pitre, Guadeloupe, French West Indies.

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.

Published 26 April 2006 in Am J Hematol, 81(5): 377-9.
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