Rapid Detection of Deletions Causing

A considerable number of deletions of variable size and position that involve the B-globin gene complex on chromosome 1 1 are associated with the clinical entities of hereditary persistence of fetal hemoglobin (HPFH) and a@ thalassemia. Specific deletions appear to be associated with consistent phenotypes and some are known to be recurrent. To facilitate the molecular diagnosis of uncharacterized patients with HPFH and 6@ thalassemia, oligonucleotide primers have been designed to enzymatically amplify deletion-specific products for nine k own deletions, which include those responsible for HPFH-1, HPFH-2, HPFH-3, Spanish thalassemia, hemoglobin (Hb) Lepore, Sicilian (S@)o thalassemia, Chinese o-y(A-y6@)o thalassemia, Asian-lndian inversion-deletion Gr(A-y6@)o thalassemia, and Turkish inversion-deletion (a@)' thalassemia. Using this approach, we have successfully characterized the molecular basis for