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  • Title: Genetic and molecular diversity in nondeletion Hb H disease.
    Author: Higgs DR, Pressley L, Aldridge B, Clegg JB, Weatherall DJ, Cao A, Hadjiminas MG, Kattamis C, Metaxatou-Mavromati A, Rachmilewitz EA, Sophocleous T.
    Journal: Proc Natl Acad Sci U S A; 1981 Sep; 78(9):5833-7. PubMed ID: 6272319.
    Abstract:
    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.
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