title: Interaction of the alpha alpha alpha globin gene haplotype and sickle haemoglobin.
abstract: 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.
mesh_terms: D000293:Adolescent; D000328:Adult; D000755:Anemia, Sickle Cell / Q000097:blood / Q000235:genetics; D002648:Child; D002874:Chromosome Mapping; D004262:DNA Restriction Enzymes; D005260:Female; D005838:Genotype; D005914:Globins / Q000235:genetics*; D006444:Hemoglobin C / Q000032:analysis; D006450:Hemoglobin SC Disease / Q000097:blood / Q000235:genetics; D006451:Hemoglobin, Sickle / Q000032:analysis; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008297:Male
chemical_list: D006451:Hemoglobin, Sickle; D005914:Globins; D006444:Hemoglobin C; D004262:DNA Restriction Enzymes