DETECTION OF ALPHA-GLOBIN GENE DISORDERS BY A SIMPLE PCR METHODOLOGY

Background. alpha thalassemias are very common in all thalassemic area s; however, complete knowledge of the phenotypic, genotypic and epidem iological features of these thalassemias has not yet been achieved for a number of reasons: the frequent absence of a thalassemic hematologi c picture, the lack of a specific characteristic comparable to the Hb A(2) increase for beta thalassemias, and the almost complete homology between the two alpha genes. Methods and Results. A new set of PCR tec hniques, each based on primer(s) specific for a particular type of alp ha globin gene disorder, has been devised in our laboratory. The proce dures are simple, and non-radioactive. They lead to the identification of all cr globin disorders common in the Mediterranean area [-alpha(3 .7), -alpha(4.2), alpha(HphI), alpha(NcoI), - -MED, -(alpha)(20.5), al pha alpha alpha(anti 3.7)]. The electrophoretic patterns specific for the main alpha globin alterations as observed with this set of techniq ues, are presented. Conclusions. Owing to their advantageous propertie s, these techniques are suitable for precise molecular characterizatio n of the numerous subjects selected through mass population screenings .