Beta-thalassemia intermedia and nontransfusional iron overload. An underrecognized combination.

Introduction. Primary iron overload is due to the inherited iron-storage di sorder hemochromatosis, whereas secondary iron overload is usually a compli cation of repeated blood transfusions. Three cases of nontransfusional iron overload in patients with beta-thalassemia intermedia are reported, Case-r eports. The three patients were 44, 50, and 58 years of age, respectively, and were from the Maghreb or India, They had beta-thalassemia intermedia wi th chronic hemolysis (hemoglobin in the 80-100 ail range, reticulocyte coun t greater than 140x10(9)/L) iron overload (transferrin saturation ratio, 91 -95%; ferritin, 1075-2090 ng/ml) and liver function alterations ranging fro m asymptomatic cytolysis to liver failure and-established cirrhosis. Tests for the C282Y mutation were negative, One patient had skin lesions and radi ological pancreatic abnormalities, Iron chelating therapy ensured partial c ontrol of the iron overload. Discussion and conclusion, These three case-re ports demonstrate that iron overload can develop in beta-thalassemia in the absence of blood transfusions, The main cause may be increased intestinal absorption of iron, although coincidental association with inherited hemoch romotosis remains a possibility.