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We have studied the interaction of the alpha alpha alpha/alpha alpha gene arrangement with various beta 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 alpha globin gene in the alpha alpha alpha gene arrangement is functional.


Journal article


Br J Haematol

Publication Date





671 - 678


Adolescent Adult Anemia, Sickle Cell/blood/genetics Child Chromosome Mapping DNA Restriction Enzymes Female Genotype Globins/*genetics Hemoglobin C/analysis Hemoglobin SC Disease/blood/genetics *Hemoglobin, Sickle/analysis Heterozygote Homozygote Human Male