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 sequenced after PCR amplification and had the delta globin sequence up to exon 2 codon 68 while the first specific base for the beta globin gene was at codon 86 of the second exon; between the two ends, they had 51 base pairs in common with the delta and beta globin genes. These data indicate that the mutation was of the Hb Lepore(Baltimore) type. The Lepore 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(Baltimore) in different regions of the world.UNIV CAMPINAS,SCH MED SCI,DEPT CLIN MED,CAMPINAS,SP,BRAZILESCOLA PAULISTA MED,SAO PAULO,BRAZILESCOLA PAULISTA MED,SAO PAULO,BRAZILWeb of Scienc