ASSOCIATION OF HB-S HB LEPORE AND DELTA-BETA-THALASSEMIA HB LEPORE INSICILIAN PATIENTS - REVIEW OF THE PRESENCE OF HB LEPORE IN SICILY/

The hemoglobin (Hb) lepore-Boston is a beta-globin structural variant, produced in a reduced amount and formed from the fusion of N-terminus delta- (residues 1-87) and C-terminus beta-chains (residues 116-146). This type of fusion protein is quite common in Southern Italy (Campan ia, Calabria, and Sicily). We report here the hematological and hemogl obin data on 96 unrelated Sicilians with Hb lepore trait. Particularly interesting are the subjects where Hb lepore occurs with Hb S or Sici lian type delta beta-thalassemia, in these individuals, striking featu res are clinical variability and different hematological pictures. The se observations underscore the importance of thalassemia screening in these geographic areas, such as Southern Italy, principally Sicily, wh ere the mutations in globin gene clusters are especially prevalent. Mo reover, as from the second half of the last century, owing to high mig ratory flux from Sicily to Northern Europe, North and South America, a nd Australia, the Hb lepore, as well as other hemoglobin variants, hav e become prevalent, making the identification of the heterozygotes a p roblem of general interest.