Hemosiderosis causing liver cirrhosis in a patient with Hb S/beta thalassemia and no other known causes of hepatic disease.

Background: Hemosiderosis in the absence of blood transfusions has been encountered in conditions associated with ineffective erythropoiesis but not in sickle-cell disease (SCD). Description of the case: We report a case of a 34-year-old Caucasian male, with a history of SCD and beta thalassemia (Hb S/β-thal) who presented with acute painful crises. Despite never having received regular blood transfusions in the past, the patient demonstrated elevated ferritin levels and transferrin saturation of 83 %. Further evaluation revealed diffuse hepatocellular dysfunction and cirrhosis.

Conclusion: To the best of our knowledge, this is the first patient with Hb S/β-thal without a prior history of chronic blood transfusions or other predisposing factors for liver disease who developed hemosiderosis and cirrhosis. The pathomechanism, in this case, is thought to be related to increased duodenal iron uptake secondary to premature red cell precursor death. Further studies are required to characterize ineffective intramedullary erythropoiesis and iron metabolism better, and to improve the existing management guidelines of iron overload. The data reported herein suggest that patients with hemoglobinotpathies should be screened for iron overload regardless of transfusion history. HIPPOKRATIA 2017, 21(1): 43-45.