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Restriction endonuclease mapping of nondeletion alpha-thalassemia determinants from a variety of racial groups showed no detectable abnormalities within a 40-kilobase region of the zeta-alpha globin gene cluster. By using a zeta-specific probe, we defined three different types of interactions that give rise to Hb H disease, each involving a nondeletion alpha-thalassemia haplotype. mRNA analysis showed further diversity within these groups, indicating that there are at least three nondeletion determinations.


Journal article


Proc Natl Acad Sci U S A

Publication Date





5833 - 5837


Chromosome Deletion Chromosome Mapping DNA Restriction Enzymes/diagnostic use Genes, Regulator Genes, Structural Hemoglobin H/*genetics Hemoglobins, Abnormal/*genetics Human Linkage (Genetics) Molecular Weight RNA, Messenger/genetics Thalassemia/*genetics