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Probable identity by descent and discovery of familial relationships by means of a rare β‐thalassemia haplotype

Beta-thalassemia alleles are uncommon amongAskenazi Jews relative to those harboured bySephardic Jews and other populations. A rare allele,a frameshift in codon 20/21, was recently reported inan Ashkenazi Jewish proband living in Israel(Oppenheim et al., 1993). The independent discov-ery of this allele in a Montreal Ashkanzi pedigree,described here, led us to ask whether it was a mo-lecular trace of a genealogical relationship betweenprobands previously unknown to be related to eachother. We show here by analysis of the mutation andthe associated marker haplotype that the Israeli andMontreal probands appear to have identity by de-scent and certainly have identity by state at the