Anales de la RANM

47 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 IMPLEMENTACIÓN DE LA NGS EN EL DIAGNÓSTICO DE HEMOGLOBINOPATÍAS Ropero P, et al. An RANM. 2026;143(01): 33 - 47 20. Fasola FA, Babalola OA, Brown BJ, Odetunde A, Falusi AG, Olopade O. The Effect of Alpha Thalassemia, HbF and HbC on Haematologi- cal Parameters of Sickle Cell Disease Patients in Ibadan, Nigeria. Mediterr J Hematol In- fect Dis. 2022;14(1):e2022001. doi: 10.4084/ MJHID.2022.001. 21. Hamid M, Keikhaei B, Galehdari H, Saberi A, Sedaghat A, Shariati G et al. Alpha-globin gene triplication and its effect in beta-thalas- semia carriers, sickle cell trait, and healthy individuals. EJHaem. 2021;2(3):366-374. doi: 10.1002/jha2.262. 22. Ropero P, González Fernández FA, Nieto JM, To- rres-Jiménez WM, Benavente C. β-Thalassemia Intermedia: Interaction of α-Globin Gene Tri- plication With β-thalassemia Heterozygous in Spain. Front Med (Lausanne). 2022;9:866396. doi: 10.3389/fmed.2022.866396. 23. Harteveld C.L. Diagnosis of Haemoglobino- pathies: New Scientific Advances. Thalass. Rep. 2018; 8: 7473. https://doi.org/10.4081/ thal.2018.7473 24. Sankaran VG, Xu J, Byron R, Greisman HA, Fisher C, Weatherall DJ et al. A functional element necessary for fetal hemoglobin silen- cing. N Engl J Med. 2011;365(9):807-14. doi: 10.1056/NEJMoa1103070. 25. de la Fuente-Gonzalo F, Nieto JM, Villegas A, González FA, Martínez R, Ropero P. Characte- rization of deletional and non-deletional alpha globin variants in a large cohort from Spain between 2009 and 2014. Ann Hematol. 2019 Apr 25. doi: 10.1007/s00277-019-03696-w 26. Mettananda S, Higgs DR. Molecular Ba- sis and Genetic Modifiers of Thalassemia. Hematology/Oncology Clin. North Ame- rica 2018;32(2):177–191. doi:10.1016/j. hoc.2017.11.003 27. Viprakasit V, Ekwattanakit S. Clinical Clas- sification, Screening and Diagnosis for Thalassemia. Hematol Oncol Clin Nor- th Am. 2018;32(2):193-211. doi: 10.1016/j. hoc.2017.11.006. 28. González FA, Blázquez C, Ropero P, Aláez C, Polo M et al. Asociación de hemoglobinopatía S y alfa-talasemia. Análisis de 45 casos [Asso- ciation of hemoglobinopathy and alpha thalas- semia. Study of 45 patients]. Med Clin (Barc). 2005;124(19):726-9. doi: 10.1157/13075443 29. He J, Song W, Yang J, Lu S, Yuan Y, Guo J et al. Next-generation sequencing improves thalasse- mia carrier screening among premarital adults in a high-prevalence population: the Dai na- tionality, China. Genet Med. 2017;19(9):1022- 1031. doi: 10.1038/gim.2016.218. Epub 2017 Jan 26. 30. Quarmyne MO, Bock F, Lakshmanan S, Attell BK, Snyder A, Boudreaux J et al. Newborn Screening for Sickle Cell Disease and Thalasse- mia. JAMA Health Forum. 2025;6(3):e250064. doi: 10.1001/jamahealthforum.2025.0064. 31. Hardison RC. Evolution of hemoglobin and its genes. Cold Spring Harb Perspect Med. 2012;2(12):a011627. doi: 10.1101/cshpers- pect.a011627. PMID: 23209182; PMCID: PMC3543078 32. Sankaran VG, Menne TF, Xu J, Akie TE, Lettre G, Van Handel B et al. Human fetal hemoglo- bin expression is regulated by the developmen- tal stage-specific repressor BCL11A. Science (New York, N.Y.). 2008 Dec;322(5909):1839- 1842. DOI: 10.1126/science.1165409. 33. Menzel, S., Thein, S.L. Genetic Modifiers of Fetal Haemoglobin in Sickle Cell Disease. Mol Diagn Ther 2019;23: 235–244. https://doi. org/10.1007/s40291-018-0370-8 34. Richards S, Aziz N, Bale S, Bick D, Das S, Gast- ier-Foster J et al. ACMG Laboratory Quality Assurance Committee. Standards and guide- lines for the interpretation of sequence vari- ants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5. Si desea citar nuestro artículo: Ropero P, Ferrer Benito S, Ortega B, Nieto JM, González FA, Villegas A, Benavente C. Implementación de la NGS en el diagnóstico de hemoglobinopatías: resultados de un es- tudio de 1.200 pacientes en un centro de referencia na- cional. An RANM. 2026;143(01): 33– 47. DOI: 10.32440/ ar.2026.143.01. rev03