Compound heterozygosity for Hb C and Hb Lepore-Boston-Washington (Hb LBW) is an unusual and very rare hemoglobinopathy since these two, relatively common hemoglobin (Hb) variants originate from distinct geographical regions [1].

Hb C [b6(A3)Glu®Lys] is found predominantly in the Black population, with the highest frequency in West Africa [2]. Individual cases have been reported in several ethnic groups (for further information, see [3]). Haplotype analyses of Hb C have shown that Hb C occurs almost exclusively on one haplotype [– + – – + + +] (referring to HincII/e, HindIII/ ^Gg, HindIII/^Ag, HincII/yb, HincII/ 3'yb, AvaII/b, and BamHI/3'b polymorphisms), with a few exceptions due to recombination 5' to the b-globin gene [4,5]. These data sup­port the hypothesis for a single origin of the Hb C mutation in West Africa.

Hb LBW (d87-bIVS-II-8) is the most frequent Lepore Hb. It is found worldwide, but is most common in Italy, the former Yugoslavia and Greece [6]. It has been found on different haplotypes, but it is most often associated with the Mediterranean haplotype V or [+ – – – – + –] [7].