Transferrin receptor-2 polymorphisms and iron overload in transfusion independent b-thalassemia intermedia

We investigated the relationship between transferrin receptor-2 (TFR2) polymorphisms, namely exon 5 I238M and IVS16 +251 CA deletion, and iron overload in 28 Chinese patients with transfusion-independent β-thalassemia intermedia. There were no significant differences in ferritin level and transferrin saturation between those with or without TFR2 polymorphisms. The number of patients with complications due to iron overload and on desferrioxamine therapy was also not increased among those with TFR2 polymorphisms. Other genetic determinant(s) that may affect the degree of iron overload should be sought in our thalassemia population.