Anales de la RANM

293 A N A L E S R A N M R E V I S T A F U N D A D A E N 1 8 7 9 ENFERMEDAD DE CÉLULAS FALCIFORMES Ropero P, et al. An RANM. 2022;139(03): 285 - 293 15. Al-Saqladi AW, Brabin BJ, Bin-Gadeem HA, Kanhai WA, Phylipsen M, Harteveld CL. Beta- globin gene cluster haplotypes in Yemeni chil- dren with sickle cell disease. Acta Haematol. 2010;123(3):182-185. doi: 10.1159/000294965. 16. Fong C, Barreto G. Presence of Non-African Haplotypes Increase Genetic Diversity in Sickle Cell Anemia Patients in Colombia. Acta Biol. Colomb, 2018; 23(3): 253-262. oi.org/10.15446/ abc.v23n3.67245 17. Labie D, Pagnier J, Lapoumeroulie C, Rouabhi F, et al. Common haplotype dependency of high G gamma-globin gene expression and high Hb F levels in beta-thalassemia and sickle cell ane- mia patients. Proc Natl Acad Sci U S A. 1985; 82(7): 2111-2114. doi: 10.1073/pnas.82.7.2111. 18. Akinsheye I, Alsultan A, Solovieff N, et al. Fetal hemoglobin in sickle cell anemia. Blood. 2011;118(1): 19-27. doi: 10.1182/ blood-2011-03-325258. 19. Galarneau G, Palmer CD, Sankaran VG, Orkin SH, Hirschhorn JN, Lettre G. Fine-mapping at three loci known to affect fetal hemoglobin le- vels explains additional genetic variation. Nat Genet. 2010;42(12): 1049-1051. doi: 10.1038/ ng.707. 20. Uda M, Galanello R, Sanna S, et al. Genome-wi- de association study shows BCL11A associated with persistent fetal hemoglobin and ameliora- tion of the phenotype of beta-thalassemia. Proc Natl Acad Sci U S A. 2008;105(5): 1620-1625. doi: 10.1073/pnas.0711566105. 21. Lettre G, Sankaran VG, Bezerra MA, et al. DNA polymorphisms at the BCL11A, HBS1L-MYB, and beta-globin loci associate with fetal he- moglobin levels and pain crises in sickle cell di- sease. Proc Natl Acad Sci U S A. 2008;105(33): 11869-11874. doi: 10.1073/pnas.0804799105. 5 22. Creary LE, Ulug P, Menzel S, et al. Genetic va- riation on chromosome 6 influences F cell le- vels in healthy individuals of African descent and HbF levels in sickle cell patients. PLoS One. 2009;4(1):e4218. doi: 10.1371/journal. pone.0004218 23. Xu J, Peng C, Sankaran VG, et al. Correction of sickle cell disease in adult mice by interfe- rence with fetal hemoglobin silencing. Science. 2011;334(6058): 993-996. doi: 10.1126/scien- ce.1211053 24. Bauer DE, Kamran SC, Lessard S, et al. An erythroid enhancer of BCL11A subject to gene- tic variation determines fetal hemoglobin level. Science. 2013;342(6155): 253-257. doi: 10.1126/ science.1242088 Si desea citar nuestro artículo: Ropero P, Peral M, Sánchez-Martínez LJ, Rochas S, Gómez-Álvarez M, Nieto JM, González FA, Villegas A, Benavente C. Fenotipo de la enfermedad de células falciforme. Relación de los haplotipos y los polimorfismos en el clúster β, BCL11A y HBS1L-MYB. estu- dio piloto. An RANM. 2022;139(03): 285– 293. DOI: 10.32440/ ar.2022.139.03 . rev09