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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.

Original publication




Journal article


Proceedings of the National Academy of Sciences of the United States of America

Publication Date





5833 - 5837


Humans, Thalassemia, Chromosome Deletion, DNA Restriction Enzymes, Hemoglobins, Abnormal, Hemoglobin H, RNA, Messenger, Chromosome Mapping, Genes, Genes, Regulator, Molecular Weight, Genetic Linkage