Hemoglobin E in Europeans: Further evidence for multiple origins of the β(E)-globin gene

We have determined haplotypes for the known restriction site polymorphisms in the β-globin gene cluster in two families of European ancestry containing individuals who are heterozygous for hemoglobin E. In both families, the β(E) mutation is associated with a haplotype not previously found among the haplotypes of β(E) chromosomes in Southeast Asia. Moreover, in one family, the mutation is present in a β-gene framework not found in β(E) chromosomes of Southeast Asia. These data provide further evidence of multiple independent origins of the β(E) mutation in human populations.