HB E HB LEPORE(HOLLANDIA) IN A FAMILY FROM BANGLADESH

We describe a family from Bangladesh in which three children are compo und heterozygotes for Hb E (alpha(2) beta(2), beta 26(Glu Lys) ) and H b Lepore (delta-beta fusion gene), PCR amplification and direct nucleo tide sequencing established that the fusion gene is Hb Lepore(Hollandi a), with the cross-over localized to a 40 bp window between codon 22 a nd IVS-1 nt 16 of the delta- and beta-globin genes. This unusual combi nation of mutations is associated with a relatively mild clinical phen otype, with all three affected siblings having microcytic anemia of mo derate severity without the need for transfusions. (C) 1994 Wiley-Liss , Inc.