PRACTICAL GUIDE TO THE DIAGNOSIS OF THALASSEMIA

Thalassemias occur in individuals of all ethnic backgrounds and are am ong the most common genetic diseases worldwide, The diagnosis of thala ssemia can easily be part of primary medical practice, Here we outline a practical approach to the detection of thalassemias in three common clinical settings. The first involves any patient with a low mean cor puscular volume (MCV) with or without anemia, The second is a neonatal screening result indicating possible presence of thalassemia, Finally , evaluation for thalassemia should be considered in the context of fa mily planning or pregnancy in patients whose ethnicity indicates origi n from high risk geographic areas, We also review the various types of the thalassemia syndromes and provide an overview of general therapeu tic considerations. (C) 1996 Wiley-Liss, Inc.