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Summary. We have studied the interaction of the ααα/αα gene arrangement with various β globin genotypes (AA, AS, AC, SS and SC). Whereas this interaction has no detectable clinical or haematological effects in subjects with AA, SS or SC genotypes it is associated with a significantly increased level of Hb S or Hb C in heterozygotes for these variants. These findings indicate that the additional α globin gene in the ααα gene arrangement is functional. Copyright © 1984, Wiley Blackwell. All rights reserved

Original publication




Journal article


British Journal of Haematology

Publication Date





671 - 678