An 11-year-old boy with Down syndrome and acute lymphoblastic leukemia developed hepatic dysfunction after only 10 months of treatment. MRI revealed severe iron deposition in the liver, pancreas, and heart. In stark contrast to what is seen in hemoglobinopathies, pancreatic and cardiac iron overload occurred with relatively low transfusion exposure and in a very short time period in this patien...

Hemoglobinopathies are among the most common inherited diseases around the world. Neurological manifestations in hemoglobinopathies may range from mild symptoms to serious complications. Early diagnosis and proper management of the basic disease require specialised hematological experties. In this review we discuss the current neurological manifestations, the management and prevention.

Sickle cell disease (SCD) and ß-thalassemia represent the most common hemoglobinopathies caused, respectively, by the alteration of structural features or deficient production of the ß-chain of the Hb molecule. Other hemoglobinopathies are characterized by different mutations in the α- or ß-globin genes and are associated with anemia and might require periodic or chronic blood transfusions. The...

The hemoglobinopathies encompass a heterogeneous group of disorders associated with mutations in both the alpha-globin and beta-globin genes. Non-sickling disorders are found primarily in individuals of Mediterranean, Asian and Southeast Asian ancestry. With rapid growth in the Asian and Hispanic segments of the US population, the geographic distribution of hemoglobinopathies is expected to bec...

Hemoglobinopathies are caused by abnormal structure or synthesis of hemoglobin chains and represent serious monogenic disorders. A new study demonstrates that lentiviral vectors can express clinically relevant levels of human transgenic beta-globin in red cells of xenografted mice. While some safety concerns must be addressed, this study is an important step toward potential clinical trials of ...

WHO estimates 180 million Hemoglobinopathies individuals worldwide, 7244 in Italy. Iron overload from transfusion therapy causes severe organic complications