BORRAYO-LO ? PEZ, FRANCISCO JAVIERIBARRA-CORTE ? S, BERTHAPEREA-DI ?AZ, FRANCISCO JAVIERMUN ? OZ-ZU ? N ? IGA, ABRIL IXCHELMONTOYA-FUENTES, HE ? CTORSOTO-PADILLA, JANETH MARGARITATORRE, LOURDES DEL CARMEN RIZO-DE LA2024-11-302024-11-302024-04BORRAYO-LO ? PEZ FRANCISCO JAVIER, IBARRA-CORTE ? S BERTHA, PEREA-DI ?AZ FRANCISCO JAVIER, MUN ? OZ-ZU ? N ? IGA ABRIL IXCHEL, MONTOYA-FUENTES HE ? CTOR, SOTO-PADILLA JANETH MARGARITA, TORRE LOURDES DEL CARMEN RIZO-DE LA . Foetal haemoglobin elevation, unfavourable prognosis, and protective role of genetic variants HBG2rs7482144, HBS1L-MYB rs9399137 and BCL11A rs4671393 in children with ALL. Journal of Genetics . 2024 Apr; 103: 1-90022-13330973-7731https://imsear.searo.who.int/handle/123456789/238657In acute lymphoblastic leukaemia (ALL), elevated foetal haemoglobin (HbF) levels have been associated with the prognosis of patients. Genetic variants in HbF regulatory genes: BAF chromatin remodelling complex subunit (BCL11A), HBS1L-MYB transcriptional GTPase intergenic region (HBS1L-MYB), Kru ?ppel-like factor 1 (KLF1), haemoglobin gamma subunit 2 (HBG2), haemoglobin gamma subunit 1 (HBG1), and haemoglobin subunit beta pseudogene 1 (HBBP1) are often associated with elevated HbF concentration. This study investigated the association of genetic variants in HbF regulatory genes with HbF concentration, unfavourable prognosis, and outcome in children with ALL. We quantified HbF concentration and genotyped 17 genetic variants in 48 patients with ALL and 64 children without ALL as a reference group. HbF concentration was higher in patients than in the reference group (4.4% vs 1.4%), and 75% (n = 36) of the patients had HbF [ 2.5%. Unfavourable prognosis ALL was established in 68.8% (n = 33) of the patients. Variant HBG2 rs7482144 was associated with high HbF concentration (P = 0.015); while HBS1L-MYB rs9399137 (P = 0.001), HBG2 rs7482144 (P = 0.001) and the b-globin genes HBG2, HBG1, and HBPP1 haplotype TGC (P = 0.017) with unfavourable prognosis ALL. Additionally, variant BCL11A rs4671393 showed a protective role (P = 0.0001). In conclusion, variants HBG2 rs7482144, HBS1L-MYB rs9399137 and BCL11A rs4671393 may play a significant role in ALL.leukaemiafoetal haemoglobingenetic variant associationHbF regulator gene.Journal ArticleIndiaDivisio ?n de Medicina Molecular, Centro de Investigacio ?n Biome ?dica de Occidente (CIBO), Instituto Mexicano del Seguro Social (IMSS), Guadalajara, Jalisco, Mexico; Doctorado en Gene ?tica Humana, Centro Universitario de Ciencias de la Salud (CUCS), Universidad de Guadalajara (UDG), Guadalajara, Jalisco, Mexico; Divisio ?n de Gene ?tica, Centro de Investigacio ?n Biome ?dica de Occidente (CIBO), Instituto Mexicano del Seguro Social (IMSS), Guadalajara, Jalisco, MexicoDepartamento de Biolog? ?a Molecular y Geno ?mica, Centro Universitario de Ciencias de la Salud (CUCS), Instituto de Gene ?tica Humana ‘‘Dr. Enrique Corona Rivera’’, Universidad de Guadalajara (UDG), Guadalajara, Jalisco, MexicoDivisio ?n de Gene ?tica, Centro de Investigacio ?n Biome ?dica de Occidente (CIBO), Instituto Mexicano del Seguro Social (IMSS), Guadalajara, Jalisco, MexicoDivisio ?n de Medicina Molecular, Centro de Investigacio ?n Biome ?dica de Occidente (CIBO), Instituto Mexicano del Seguro Social (IMSS), Guadalajara, Jalisco, Mexico; Licenciatura en Ingenier? ?a en Biotecnolog? ?a, Instituto Tecnolo ?gico y de Estudios Superiores de Occidente, San Pedro Tlaquepaque, Jalisco, MexicoLaboratorio de Microbiolog? ?a Molecular, Divisio ?n de Medicina Molecular, Centro de Investigacio ?n Biome ?dica de Occidente, Instituto Mexicano del Seguro Social, Guadalajara, Jalisco, MexicoDepartamento de Hematolog? ?a Pedia ?trica, Unidad Me ?dica de Alta Especialidad (UMAE), Hospital de Pediatr? ?a, Centro Me ?dico Nacional de Occidente, Instituto Mexicano del Seguro Social (IMSS), Guadalajara, Jalisco, Me ?xicoDivisio ?n de Medicina Molecular, Centro de Investigacio ?n Biome ?dica de Occidente (CIBO), Instituto Mexicano del Seguro Social (IMSS), Guadalajara, Jalisco, Mexico