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Common haplotype dependency of high G gamma-globin gene expression and high Hb F levels in beta-thalassemia and sickle cell anemia patients.
Open accessAbstract
We 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 G gamma-globin/A gamma-globin ratios. Populations selected have a high frequency of haplotype homozygotes because of consanguinity (Algeria) and geographic homogeneity (West Africa). We 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 G gamma-globin expression. In addition, haplotypes IX and Senegal, but not haplotype III, have high Hb F levels. All of these haplotype have a common subhaplotype (+- ) in the gamma-globin gene region. In addition, haplotypes IX, III, and Senegalese sickle cell anemia patients exhibit hematological amelioration of their disease. Conversely, haplotypes I, V, and A in thalassemia patients, which also have a common subhaplotype (-----), and the Benin subhaplotype (--++-) in sickle cell anemia patients are all associated with low G gamma-globin and low Hb F levels. Low G gamma-globin expression in the adult is associated with two haplotypes that are not common between thalassemia and sickle cell anemia patients. We conclude that the determinant for high 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 G gamma-globin expression, however, is linked to haplotypes but not to subhaplotypes, thus dissociating the two genetic effects.
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Citations
Cited by
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Weatherall, D. J. (2001) · Nature Reviews Genetics · doi:10.1038/35066048 · Cited by 692
Lettre, G., Sankaran, V. G., Bezerra, M. A. C., Araújo, A. S., Uda, M., Sanna, S., Cao, A., Schlessinger, D., Costa, F. F., Hirschhorn, J. N., et al. (2008) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0804799105 · Cited by 561
Fetal hemoglobin in sickle cell anemia
Akinsheye, I., Alsultan, A., Solovieff, N., Ngo, D., Baldwin, C. T., Sebastiani, P., Chui, D. H. K., & Steinberg, M. H. (2011) · Blood · doi:10.1182/blood-2011-03-325258 · Cited by 553
Genetic modifiers of sickle cell disease
Steinberg, M. H., & Sebastiani, P. (2012) · American Journal of Hematology · doi:10.1002/ajh.23232 · Cited by 315
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Metadata
- Authors
- Labie, D., Pagnier, J., Lapoumeroulie, C., Rouabhi, F., Dunda-Belkhodja, O., Chardin, P., Beldjord, C., Wajcman, H., Fabry, M. E., & Nagel, R. L.
- Venue
- Proceedings of the National Academy of Sciences
- Published
- 1985-04
- Volume
- 82
- Issue
- 7
- Pages
- 2111-2114
- ISSN
- 0027-8424 (ISSN-L)
- 1091-6490
- OpenAlex
- W2006641199
- Cited by
- 234
- References
- 0
- FWCI
- 6.74
- Type
- journal article
- Language
- en
- Open access
- green
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- Labie, D., Pagnier, J., Lapoumeroulie, C., Rouabhi, F., Dunda-Belkhodja, O., Chardin, P., Beldjord, C., Wajcman, H., Fabry, M. E., & Nagel, R. L. (1985). Common haplotype dependency of high G gamma-globin gene expression and high Hb F levels in beta-thalassemia and sickle cell anemia patients. Proceedings of the National Academy of Sciences. https://doi.org/10.1073/pnas.82.7.2111
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