Common haplotype dependency of high super(G) gamma -globin gene expression and high Hb F levels in beta -thalassemia and sickle cell anemia patients

• Published in: Proceedings of the National Academy of Sciences - PNAS 1985-01, Vol.82 (7), p.2111-2114
• Main Authors: Labie, D, Pagnier, J, Lapoumeroulie, C, Rouabhi, F, Dunda-Belkhodja, O, Chardin, P, Beldjord, C, Wajcman, H, Fabry, ME
• Format: Article
• Language: English
• ISSN: 0027-8424

The authors have studied 42 homozygous beta -thalassemia patients from Algeria and 34 sickle cell anemia patients from Senegal and Benin, determining the relationship between haplotypes, Hb F, and super(G) gamma -globin ratios. The authors find in beta -thalassemia patients, that haplotype IX in haplotypic homozygotes and heterozygotes, haplotype III in heterozygotes, and the Senegal haplotype in sickle cell anemia patients are all linked to high super(G) gamma -globin expression. All of these haplotype have a common subhaplotype in the gamma -globin gene region. Haplotypes I, V, and A in thalassemia patients, and the Benin subhaplotype in sickle cell anemia patients are all associated with low super(G) gamma -globin and low Hb F levels. The authors conclude that the determinant for high super(G) gamma -globin expression is haplotype-linked to common and genetically dominant subhaplotypes in the two diseases. The total Hb F level, unlike the high super(G) gamma -globin expression, however, is linked to haplotypes but not to subhaplotypes, thus dissociating the two genetic effects.