New approaches for cholestasis in hemoglobinopathies.

Abstract

TO THE EDITOR: With approximately 7% of the worldwide population being carriers, hemoglobinopathies are the most common monogenic diseases [1]. The cumulative gene frequency of hemoglobinopathies in India is 4.2% [2]. Although liver involvement in the forms of intrahepatic cholestasis, hepatic crisis and cholelithiasis are common findings in patients with sickle cell disease [3], cholestasis is not a well-studied condition in non-transfusion dependent hemoglobinopathies. Herein, we report two cases of hemoglobin variants that presented with recurrent cholestasis and were managed with new therapeutic interventions.