HB LEPORE(BALTIMORE) (DELTA-50SER BETA-86ALA) IDENTIFIED BY DNA ANALYSIS IN A BRAZILIAN FAMILY

Genomic DNA from two Brazilian hemoglobin (Hb) Lepore heterozygotes of Italian ancestry have been studied in order to identify the Hb Lepore type and to sequence the breakpoint region. The two genes were sequen ced after PCR amplification and had the delta globin sequence up to ex on 2 codon 68 while the first specific base for the beta globin gene w as at codon 86 of the second exon; between the two ends, they had 51 b ase pairs in common with the delta and beta globin genes. These data i ndicate that the mutation was of the Hb Lepore(Baltimore) type. The Le pore chromosome haplotype was different from that previously described in members of a Spanish family with Hb Lepore(Baltimore). These data suggest that independent mutations have given rise to Hb Lepore(Baltim ore) in different regions of the world.