{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,23]],"date-time":"2026-06-23T12:48:45Z","timestamp":1782218925585,"version":"3.54.5"},"reference-count":89,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2026,6,23]],"date-time":"2026-06-23T00:00:00Z","timestamp":1782172800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2026,6,23]],"date-time":"2026-06-23T00:00:00Z","timestamp":1782172800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"name":"Universidade Federal Do Oeste Da Bahia"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Mol Biol Rep"],"published-print":{"date-parts":[[2026,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Sickle cell anemia (SCA) is a condition caused by a mutation in the\n                      <jats:italic>HBB<\/jats:italic>\n                      gene, leading to the production of hemoglobin S in red blood cells. Hydroxyurea (HU), used in treatment, increases fetal hemoglobin (HbF) levels, thereby reducing erythrocyte sickling, as do single-nucleotide polymorphisms (SNPs) in the\n                      <jats:italic>BCL11A<\/jats:italic>\n                      gene and the\n                      <jats:italic>HBS1L-MYB<\/jats:italic>\n                      intergenic region. In this study, we investigated the combined effects of HU therapy, \u03b2\n                      <jats:sup>S<\/jats:sup>\n                      -globin haplotypes, and SNPs in\n                      <jats:italic>BCL11A<\/jats:italic>\n                      and the\n                      <jats:italic>HBS1L-MYB<\/jats:italic>\n                      intergenic region on HbF levels in a cohort from Western Bahia, Brazil.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods and results<\/jats:title>\n                    <jats:p>\n                      The DNA of 43 individuals with SCA was analyzed for SNPs rs4671393, rs7557939, rs1427407, and rs11886868 (\n                      <jats:italic>BCL11A<\/jats:italic>\n                      ), and rs4895441, rs9402686, and rs11759553 (\n                      <jats:italic>HBS1L-MYB<\/jats:italic>\n                      ). Individuals receiving HU therapy presented significantly higher HbF levels than untreated individuals (\n                      <jats:italic>p<\/jats:italic>\n                      \u2009=\u20090.028). Factorial ANOVA demonstrated a significant interaction between HU use, \u03b2\n                      <jats:sup>S<\/jats:sup>\n                      haplotypes, and sex on HbF variability (\n                      <jats:italic>p<\/jats:italic>\n                      \u2009&lt;\u20090.001). Significant associations with HbF levels were observed for rs7557939 in\n                      <jats:italic>BCL11A<\/jats:italic>\n                      under overdominant models in untreated individuals, and for rs11759553, rs4895441, and rs9402686 in the\n                      <jats:italic>HBS1L-MYB<\/jats:italic>\n                      region under dominant and recessive models. Multiple linear regression indicated that HU use, sex, rs1427407, rs7557939, and rs4895441 explained 46.5% of the variability in HbF (R\u00b2 = 0.465;\n                      <jats:italic>p<\/jats:italic>\n                      \u2009=\u20090.001). Linkage disequilibrium (LD) analyses revealed non-random associations between rs4671393 and rs1427407; and between rs9402686, rs4895441, and rs11759553. The transcription factors GATA-1, SMARCA4, and CBFA2T3, which are essential for regulating hematopoietic cell production and differentiation, were associated with these variants.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      These findings reinforce the contribution of genetic variants in\n                      <jats:italic>BCL11A<\/jats:italic>\n                      and\n                      <jats:italic>HBS1L-MYB<\/jats:italic>\n                      to HbF modulation in SCA. The identification of genetic markers associated with increased HbF levels may contribute to future strategies for individualized therapeutic monitoring in SCA.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1007\/s11033-026-12151-9","type":"journal-article","created":{"date-parts":[[2026,6,23]],"date-time":"2026-06-23T11:57:10Z","timestamp":1782215830000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["BCL11A and HBS1L-MYB polymorphisms, in association with hydroxyurea and sex, modulate fetal hemoglobin levels in individuals with sickle cell anemia in the western region of Bahia, Brazil"],"prefix":"10.1007","volume":"53","author":[{"ORCID":"https:\/\/orcid.org\/0009-0009-0545-4654","authenticated-orcid":false,"given":"Manoel Ferreira","family":"de Magalh\u00e3es Filho","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0006-3504-2827","authenticated-orcid":false,"given":"Ilana Luize Rocha","family":"Santana","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0006-5843-8541","authenticated-orcid":false,"given":"P\u00e2mela Lourdes Pereira","family":"da Silva","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1814-8954","authenticated-orcid":false,"given":"Larissa Paola Rodrigues","family":"Venancio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2026,6,23]]},"reference":[{"key":"12151_CR1","doi-asserted-by":"publisher","first-page":"585","DOI":"10.1016\/S2352-3026(23)00118-7","volume":"10","author":"A Thomson","year":"2023","unstructured":"Thomson A et al (2023) Global, regional, and national prevalence and mortality burden of sickle cell disease, 2000\u20132021: a systematic analysis from the Global Burden of Disease Study 2021. Lancet Haematol 10:585\u2013599. https:\/\/doi.org\/10.1016\/S2352-3026(23)00118-7","journal-title":"Lancet Haematol"},{"key":"12151_CR2","doi-asserted-by":"publisher","first-page":"18","DOI":"10.1038\/nrdp.2018.10","volume":"4","author":"GJ Kato","year":"2018","unstructured":"Kato GJ, Piel FB, Reid CD, Gaston MH, Ohene-Frempong K, Krishnamurti L, Smith WR, Panepinto JA, Weatherall DJ, Costa FF et al (2018) Sickle cell disease. Nat Reviews Disease Primers 4:18. https:\/\/doi.org\/10.1038\/nrdp.2018.10","journal-title":"Nat Reviews Disease Primers"},{"key":"12151_CR3","doi-asserted-by":"publisher","first-page":"163","DOI":"10.1016\/s0950-3536(98)80074-7","volume":"11","author":"MH Steinberg","year":"1998","unstructured":"Steinberg MH (1998) Pathophysiology of sickle cell disease. Bailli\u00e8re\u2019s Clin Haematol 11:163\u2013184. https:\/\/doi.org\/10.1016\/s0950-3536(98)80074-7","journal-title":"Bailli\u00e8re\u2019s Clin Haematol"},{"key":"12151_CR4","doi-asserted-by":"publisher","first-page":"1096","DOI":"10.3390\/genes12071096","volume":"12","author":"M Musialek","year":"2021","unstructured":"Musialek M, Rybaczek D (2021) Hydroxyurea-The Good, the Bad and the Ugly. Genes 12:1096\u20131104. https:\/\/doi.org\/10.3390\/genes12071096","journal-title":"Genes"},{"key":"12151_CR5","doi-asserted-by":"publisher","first-page":"73","DOI":"10.1002\/cpt.2028","volume":"109","author":"M Dong","year":"2021","unstructured":"Dong M, Mcgann PT (2021) Changing the clinical paradigm of hydroxyurea treatment for sickle cell anemia through precision medicine. Clin Pharmacol Ther 109:73\u201381. https:\/\/doi.org\/10.1002\/cpt.2028","journal-title":"Clin Pharmacol Ther"},{"key":"12151_CR6","doi-asserted-by":"publisher","first-page":"4","DOI":"10.1016\/j.bcmd.2014.10.003","volume":"54","author":"AA Bhanushali","year":"2015","unstructured":"Bhanushali AA, Patra PK, Nair D, Verma H, Das BR (2015) Genetic variant in the BCL11A (rs1427407), but not HBS1-MYB (rs6934903) loci associate with fetal hemoglobin lev, els in Indian sickle cell disease patients. Blood Cells Molecules Dis 54:4\u20138. https:\/\/doi.org\/10.1016\/j.bcmd.2014.10.003","journal-title":"Blood Cells Molecules Dis"},{"issue":"6","key":"12151_CR7","doi-asserted-by":"publisher","first-page":"1234","DOI":"10.3324\/haematol.2021.278952","volume":"107","author":"P Allard","year":"2022","unstructured":"Allard P, Alapan Y, Nouraie M et al (2022) Genetic modifiers of fetal hemoglobin affect the course of sickle cell disease in patients treated with hydroxyurea. Haematologica 107(6):1234\u20131243. https:\/\/doi.org\/10.3324\/haematol.2021.278952","journal-title":"Haematologica"},{"key":"12151_CR8","doi-asserted-by":"publisher","unstructured":"Friedrisch JR, Sheehan VA et al The role of BCL11A and HMIP-2 polymorphisms on endogenous and hydroxyurea-induced levels of fetal hemoglobin in sickle cell anemia patients from southern Brazil (2016). Blood Cells Mol Dis 62:32\u201337. https:\/\/doi.org\/10.1016\/j.bcmd.2016.11.002","DOI":"10.1016\/j.bcmd.2016.11.002"},{"key":"12151_CR9","doi-asserted-by":"publisher","unstructured":"Pule GD, Mowla S, Novitzky N, Wiysonge CS, Wonkam A (2015) A systematic review of known mechanisms of hydroxyurea-induced fetal hemoglobin for treatment of sickle cell disease. Expert Rev Hematol 8(5):669\u201379. https:\/\/doi.org\/10.1586\/17474086.2015.1078235","DOI":"10.1586\/17474086.2015.1078235"},{"key":"12151_CR10","doi-asserted-by":"publisher","first-page":"1839","DOI":"10.1126\/science.1165409","volume":"322","author":"VG Sankaran","year":"2008","unstructured":"Sankaran VG, Menne TF, Xu J, Akie TE, Lettre G, Handel BV, Mikkola HKA, Hirschhorn JN, Cantor AB, Orkin SH (2008) Human Fetal Hemoglobin Expression Is Regulated by the Developmental Stage-Specific Repressor BCL11A. Science 322:1839\u20131842. https:\/\/doi.org\/10.1126\/science.1165409","journal-title":"Science"},{"key":"12151_CR11","doi-asserted-by":"crossref","unstructured":"Trakarnsanga K, Wilson MC, Lau W, Singleton BK, Parsons SF, Sakuntanaga P, Kurita R, Nakamura Y, Anstee DJ, Frayne J (2014) Induction of adult levels of \u03b2-globin in human erythroid cells that intrinsically express embryonic or fetal globin by transduction with KLF1 and BCL11A-XL. Haematologica 99:1677\u20131685","DOI":"10.3324\/haematol.2014.110155"},{"key":"12151_CR12","doi-asserted-by":"publisher","first-page":"1","DOI":"10.3389\/fphar.2021.779497","volume":"12","author":"RR Sales","year":"2022","unstructured":"Sales RR, Nogueira BL, Tosatti JAG, Gomes KB, Luizon MR (2022) Do Genetic Polymorphisms Affect Fetal Hemoglobin (HbF) Levels in Patients With Sickle Cell Anemia Treated With Hydroxyurea? A Systematic Review and Pathway Analysis. Front Pharmacol 12:1. https:\/\/doi.org\/10.3389\/fphar.2021.779497","journal-title":"Front Pharmacol"},{"key":"12151_CR13","doi-asserted-by":"publisher","first-page":"3624","DOI":"10.1182\/blood-2007-05-093419","volume":"110","author":"S Menzel","year":"2007","unstructured":"Menzel S, Jiang J, Silver N, Gallagher J, Cunningham J, Surdulescu G, Lathrop M, Farrall M, Spector TD, Thein SL (2007) The HBS1L-MYB intergenic region on chromosome 6q23.3 influences erythrocyte, platelet, and monocyte counts in humans. Hematopoiesis 110:3624\u20133626. https:\/\/doi.org\/10.1182\/blood-2007-05-093419","journal-title":"Hematopoiesis"},{"key":"12151_CR14","doi-asserted-by":"publisher","first-page":"523","DOI":"10.1038\/nrc2439","volume":"8","author":"RG Ramsay","year":"2008","unstructured":"Ramsay RG, Gonda TJ (2008) MYB function in normal and cancer cells. Nat Rev Cancer 8:523\u2013534. https:\/\/doi.org\/10.1038\/nrc2439","journal-title":"Nat Rev Cancer"},{"key":"12151_CR15","doi-asserted-by":"publisher","unstructured":"Alshaikh FS, Deifalla A, Sequeira RP, Woodman A (2025) Gene polymorphisms predicting response to hydroxyurea treatment in Bahraini patients with sickle cell disease. Expert Rev Hematol 18(11):999\u20131012. https:\/\/doi.org\/10.1080\/17474086.2025.2546575","DOI":"10.1080\/17474086.2025.2546575"},{"key":"12151_CR16","doi-asserted-by":"publisher","first-page":"fmac073","DOI":"10.1093\/tropej\/fmac073","volume":"68","author":"LC Rizo-de la Torre","year":"2022","unstructured":"Rizo-de la Torre LC, Borrayo-L\u00f3pez FJ, Perea-D\u00edaz FJ, Aquino E, Venegas M, Hern\u00e1ndez-Carbajal C, Espinoza-Mata LL, Ibarra-Cort\u00e9s B (2022) Fetal hemoglobin regulating genetic variants identified in homozygous (HbSS) and heterozygous (HbSA) subjects from South Mexico. J Trop Pediatr 68:fmac073. https:\/\/doi.org\/10.1093\/tropej\/fmac073","journal-title":"J Trop Pediatr"},{"key":"12151_CR17","doi-asserted-by":"publisher","unstructured":"Akbulut-Jeradi N, Fernandez MJ, Al Khaldi R, Sukumaran J, Adekile A (2021) Unique polymorphisms at BCL11A, HBS1L-MYB and HBB loci associated with HbF in Kuwaiti patients with sickle cell disease. J Pers Med [Internet] 11(6):567. Available from: https:\/\/doi.org\/10.3390\/jpm11060567","DOI":"10.3390\/jpm11060567"},{"key":"12151_CR18","doi-asserted-by":"publisher","first-page":"176","DOI":"10.1016\/j.bcmd.2014.07.006","volume":"53","author":"Cardoso","year":"2014","unstructured":"Cardoso GL, Diniz IG, Silva ANLM, Cunha DA, Silva Junior JS, Uch\u00f4a CTC, Santos SEB, Trindade SMS, Cardoso MSO, Guerreiro JF (2014) DNA polymorphisms at BCL11A, HBS1L-MYB and Xmn1-HBG2 site loci associated with fetal hemoglobin levels in sickle cell anemia patients from Northern Brazil. Blood Cells Molecules Dis 53:176\u2013179. https:\/\/doi.org\/10.1016\/j.bcmd.2014.07.006","journal-title":"Blood Cells Molecules Dis"},{"key":"12151_CR19","doi-asserted-by":"publisher","first-page":"108","DOI":"10.1186\/1471-2164-15-108","volume":"15","author":"P Fanis","year":"2014","unstructured":"Fanis P, Kousiappa I, Phylactides M, Kleanthous M (2014) Genotyping of BCL11A and HBS1L-MYB SNPs associated with fetal haemoglobin levels: a SNaPshot minisequencing approach. BMC Genomics 15:108. https:\/\/doi.org\/10.1186\/1471-2164-15-108","journal-title":"BMC Genomics"},{"key":"12151_CR20","doi-asserted-by":"publisher","first-page":"371","DOI":"10.3109\/03630269.2012.691147","volume":"36","author":"M Banan","year":"2012","unstructured":"Banan M, Bayat H, Azarkeivan A, Mohammadparast S, Kamali K, Farashi S, Bayat N, Khani MH, Neishabury M, Najmabadi H (2012) The XmnI and BCL11A single nucleotide polymorphisms may help predict hydroxyurea response in Iranian \u03b2-thalassemia patients. Hemoglobin 36:371\u2013380. https:\/\/doi.org\/10.3109\/03630269.2012.691147","journal-title":"Hemoglobin"},{"issue":"4732","key":"12151_CR21","doi-asserted-by":"publisher","first-page":"1350","DOI":"10.1126\/science.2999980","volume":"230","author":"RK Saiki","year":"1985","unstructured":"Saiki RK, Scharf S, Faloona F, Mullis KB, Horn GT, Erlich H\u00c1, Arnheim N (1985) Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia. Science 230(4732):1350\u20131354. https:\/\/doi.org\/10.1126\/science.2999980","journal-title":"Science"},{"key":"12151_CR22","doi-asserted-by":"publisher","first-page":"201438","DOI":"10.1016\/j.humgen.2025.201438","volume":"45","author":"ILR Santana","year":"2025","unstructured":"Santana ILR, Magalh\u00e3es R, Bernardo VS, Magalh\u00e3es Filho MF, Silva PLP, Venancio LPR (2025) \u03b2S haplotypes: Genetic profile and association with biochemical parameters in individuals with sickle cell anemia in Western Bahia, Brazil. Hum Gene 45:201438. https:\/\/doi.org\/10.1016\/j.humgen.2025.201438","journal-title":"Hum Gene"},{"key":"12151_CR23","doi-asserted-by":"publisher","first-page":"66","DOI":"10.1002\/ajh.2830320113","volume":"32","author":"M Sutton","year":"1989","unstructured":"Sutton M, Bouhassira EE, Nagel RL (1989) Polymerase chain reaction amplification applied to the determination of beta-like globin gene cluster haplotypes. Am J Hematol 32:66\u201369. https:\/\/doi.org\/10.1002\/ajh.2830320113","journal-title":"Am J Hematol"},{"key":"12151_CR24","doi-asserted-by":"crossref","unstructured":"Okumura JV, Silva DGH, Torres LS, Belini-Junior E, Venancio LPR, Carrocini GCS et al (2019) Atypical \u03b2-S haplotypes: classification and genetic modulation in patients with sickle cell anemia. J Hum Genet 64(3):239\u201348. https:\/\/www.nature.com\/articles\/s10038-018-0554-4","DOI":"10.1038\/s10038-018-0554-4"},{"key":"12151_CR25","doi-asserted-by":"publisher","first-page":"55","DOI":"10.2174\/1875036201206010055","volume":"6","author":"A Collins","year":"2012","unstructured":"Collins A, Ke X (2012) Primer1: Primer Design Web Service for Tetra-Primer ARMS-PCR. Open Bioinf J 6:55\u201358. https:\/\/doi.org\/10.2174\/1875036201206010055","journal-title":"Open Bioinf J"},{"key":"12151_CR26","doi-asserted-by":"publisher","first-page":"15108","DOI":"10.1186\/1471-2164-15-108","volume":"6","author":"P Fanis","year":"2018","unstructured":"Fanis P, Kousiappa I, Phylactides M, Kleanthous M (2018) Quantitative trait loci influencing Hb F levels in Southern Thai Hb E (HBB: c.79G\u2009>\u2009A) heterozygotes. Int J Hemoglobin Res 6:15108. https:\/\/doi.org\/10.1186\/1471-2164-15-108","journal-title":"Int J Hemoglobin Res"},{"key":"12151_CR27","doi-asserted-by":"publisher","unstructured":"Clarke GM, Anderson CA, Pettersson FH, Cardon LR, Morris AP, Zondervan KT (2011) Basic statistical analysis in genetic case-control studies. Nat Protoc 6(2):121\u201333. Available from: https:\/\/doi.org\/10.1038\/nprot.2010.182","DOI":"10.1038\/nprot.2010.182"},{"key":"12151_CR28","doi-asserted-by":"publisher","unstructured":"Kim Y, Chi Y-Y, Zou F (2020) An efficient integrative resampling method for gene-trait association analysis. Genet Epidemiol [Internet] 44(2):197\u2013207. Available from: https:\/\/doi.org\/10.1002\/gepi.22271","DOI":"10.1002\/gepi.22271"},{"key":"12151_CR29","doi-asserted-by":"publisher","unstructured":"Liu H-M, Zheng J-P, Yang D, Liu Z-F, Li Z, Hu Z-Z et al (2021) Recessive\/dominant model: Alternative choice in case-control-based genome-wide association studies. PLoS One 16(7):e0254947. Available from: https:\/\/doi.org\/10.1371\/journal.pone.0254947","DOI":"10.1371\/journal.pone.0254947"},{"issue":"8","key":"12151_CR30","doi-asserted-by":"publisher","first-page":"587","DOI":"10.1038\/nrg1123","volume":"4","author":"JD Wall","year":"2003","unstructured":"Wall JD, Pritchard JK (2003) Haplotype blocks and linkage disequilibrium in the human genome. Nat Rev Genet 4(8):587\u2013597. https:\/\/doi.org\/10.1038\/nrg1123","journal-title":"Nat Rev Genet"},{"issue":"3","key":"12151_CR31","doi-asserted-by":"publisher","first-page":"290","DOI":"10.1093\/tropej\/fmz070","volume":"66","author":"AOD Ofakunrin","year":"2020","unstructured":"Ofakunrin AOD, Oguche S, Adekola K, Okpe ES, Afolaranmi TO, Diaku-Akinwumi IN et al (2020) Effectiveness and safety of hydroxyurea in the treatment of sickle cell anaemia children in Jos, north central Nigeria. J Trop Pediatr [Internet] 66(3):290\u2013298. https:\/\/doi.org\/10.1093\/tropej\/fmz070","journal-title":"J Trop Pediatr [Internet]"},{"key":"12151_CR32","doi-asserted-by":"publisher","first-page":"1","DOI":"10.3390\/diagnostic","volume":"12","author":"SNNA Mohammad","year":"2022","unstructured":"Mohammad SNNA, Iberahim S, Wan Ab Rahman WS, Hassan MN, Edinur HA, Azlan M et al (2022) Single nucleotide polymorphisms in XMN1-HBG2, HBS1L-MYB, and BCL11A and their relation to high fetal hemoglobin levels that alleviate anemia. Diagnostics 12:1\u201313. https:\/\/doi.org\/10.3390\/diagnostic","journal-title":"Diagnostics"},{"key":"12151_CR33","doi-asserted-by":"publisher","first-page":"11869","DOI":"10.1073\/pnas","volume":"105","author":"G Lettre","year":"2008","unstructured":"Lettre G, Sankaran VG, Bezerra MAC, Araujo AS, Uda M, Sanna S et al (2008) DNA polymorphisms at the BCL11A, HBS1L-MYB, and \u03b2-globin loci associate with fetal hemoglobin levels and pain crises in sickle cell disease. Proc Natl Acad Sci USA 105:11869\u201311874. https:\/\/doi.org\/10.1073\/pnas08047 99105","journal-title":"Proc Natl Acad Sci USA"},{"key":"12151_CR34","doi-asserted-by":"publisher","first-page":"1480831","DOI":"10.3389\/fmed.2024.1480831","volume":"11","author":"T Huang","year":"2024","unstructured":"Huang T, Jiang H, Tang G, Li J, Huang X, Huang Z et al (2024) Efficacy and safety of hydroxyurea therapy on patients with \u03b2-thalassemia: a systematic review and meta-analysis. Front Med (Lausanne) [Internet] 11:1480831. https:\/\/doi.org\/10.3389\/fmed.2024.1480831","journal-title":"Front Med (Lausanne) [Internet]"},{"key":"12151_CR35","doi-asserted-by":"publisher","first-page":"253","DOI":"10.1126\/science.1242088","volume":"342","author":"DE Bauer","year":"2013","unstructured":"Bauer DE, Kamran SC, Orkin SH (2013) An erythroid enhancer of BCL11A subject to genetic variation determines fetal hemoglobin level. Science 342:253\u2013257. https:\/\/doi.org\/10.1126\/science.1242088","journal-title":"Science"},{"key":"12151_CR36","doi-asserted-by":"publisher","first-page":"595","DOI":"10.1002\/jha2.735","volume":"4","author":"PL Kabuyi","year":"2023","unstructured":"Kabuyi PL, Mbayabo G, Ngole M, Zola AL, Race V, Matthijs G, Geet CV, Tshilobo PL, Devriendt K, Mikobi TM (2023) Hydroxyurea treatment for adult sickle cell anemia patients in Kinshasa. EJHaem 4:3:595\u2013601. https:\/\/doi.org\/10.1002\/jha2.735","journal-title":"EJHaem"},{"key":"12151_CR37","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1038\/s41598-022-25444-3","volume":"13","author":"N Kargutkar","year":"2023","unstructured":"Kargutkar N, Sawant-Mulay M, Hariharan P, Chandrakala S, Nadkarni A (2023) Role of microRNA in hydroxyurea mediated HbF induction in sickle cell anaemia patients. Sci Rep 13:1","journal-title":"Sci Rep"},{"key":"12151_CR38","doi-asserted-by":"publisher","first-page":"102822102822","DOI":"10.1016\/j.bcmd.2023.102822","volume":"105","author":"B Santos","year":"2024","unstructured":"Santos B, Ginete C, Gon\u00e7alves E, Delgadinho M, Miranda A, Faustino P, Arez AP, Brito M (2024) Characterization of a cohort of Angolan children with sickle cell anemia treated with hydroxyurea. Blood Cells Mol Dis 105:102822102822. https:\/\/doi.org\/10.1016\/j.bcmd.2023.102822","journal-title":"Blood Cells Mol Dis"},{"key":"12151_CR39","doi-asserted-by":"publisher","first-page":"238","DOI":"10.1590\/1516-3180.2013.1314467","volume":"131","author":"AC Silva-Pinto","year":"2013","unstructured":"Silva-Pinto AC, Angulo IL, Brunetta DM, Neves FIR, Bassi SC, Santis GCD, Covas DT (2013) Clinical and hematological effects of hydroxyurea therapy in sickle cell patients: a single-center experience in Brazil. Sao Paulo Med J 131:4:238\u2013243. https:\/\/doi.org\/10.1590\/1516-3180.2013.1314467","journal-title":"Sao Paulo Med J"},{"key":"12151_CR40","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.2023.284633","author":"CT Quinn","year":"2025","unstructured":"Quinn CT, Ware RE (2025) The modern use of hydroxyurea for children with sickle cell anemia. Haematologica. https:\/\/doi.org\/10.3324\/haematol.2023.284633","journal-title":"Haematologica"},{"issue":"3","key":"12151_CR41","doi-asserted-by":"publisher","first-page":"1078","DOI":"10.1182\/blood.v89.3.1078","volume":"89","author":"MH Steinberg","year":"1997","unstructured":"Steinberg MH, Lu Z-H, Barton FB, Terrin ML, Charache S, Dover GJ et al (1997) Fetal hemoglobin in sickle cell anemia: Determinants of response to Hydroxyurea. Blood 89(3):1078\u20131088. https:\/\/doi.org\/10.1182\/blood.v89.3.1078","journal-title":"Blood"},{"issue":"1\u20132","key":"12151_CR42","doi-asserted-by":"publisher","first-page":"48","DOI":"10.1016\/j.mrgentox.2012.08.003","volume":"749","author":"LB da Silva Rocha","year":"2012","unstructured":"da Silva Rocha LB, Dias Elias DB, Barbosa MC, Bandeira ICJ, Gon\u00e7alves RP (2012) DNA damage in leukocytes of sickle cell anemia patients is associated with hydroxyurea therapy and with HBB*S haplotype. Mutat Res 749(1\u20132):48\u201352. https:\/\/doi.org\/10.1016\/j.mrgentox.2012.08.003","journal-title":"Mutat Res"},{"issue":"2","key":"12151_CR43","doi-asserted-by":"publisher","first-page":"217","DOI":"10.1016\/j.cyto.2013.10.009","volume":"65","author":"ICJ Bandeira","year":"2014","unstructured":"Bandeira ICJ, Rocha LBS, Barbosa MC, Elias DBD, Querioz JAN, Freitas MVC et al (2014) Chronic inflammatory state in sickle cell anemia patients is associated with HBB(*)S haplotype. Cytokine 65(2):217\u2013221. https:\/\/doi.org\/10.1016\/j.cyto.2013.10.009","journal-title":"Cytokine"},{"issue":"6","key":"12151_CR44","doi-asserted-by":"publisher","first-page":"H2715","DOI":"10.1152\/ajpheart.00986.2004","volume":"288","author":"JD Belcher","year":"2005","unstructured":"Belcher JD, Mahaseth H, Welch TE, Vilback AE, Sonbol KM, Kalambur VS et al (2005) Critical role of endothelial cell activation in hypoxia-induced vasoocclusion in transgenic sickle mice. Am J Physiol Heart Circ Physiol 288(6):H2715\u2013H2725. https:\/\/doi.org\/10.1152\/ajpheart.00986.2004","journal-title":"Am J Physiol Heart Circ Physiol"},{"key":"12151_CR45","doi-asserted-by":"publisher","first-page":"99","DOI":"10.1016\/j.cca.2016.04.035","volume":"458","author":"K Stankovic Stojanovic","year":"2016","unstructured":"Stankovic Stojanovic K, Lionnet F (2016) Lactate dehydrogenase in sickle cell disease. Clin Chim Acta 458:99\u2013102. https:\/\/doi.org\/10.1016\/j.cca.2016.04.035","journal-title":"Clin Chim Acta"},{"issue":"6","key":"12151_CR46","doi-asserted-by":"publisher","first-page":"2279","DOI":"10.1182\/blood-2005-06-2373","volume":"107","author":"GJ Kato","year":"2006","unstructured":"Kato GJ, McGowan V, Machado RF, Little JA, Taylor J 6th, Morris CR et al (2006) Lactate dehydrogenase as a biomarker of hemolysis-associated nitric oxide resistance, priapism, leg ulceration, pulmonary hypertension, and death in patients with sickle cell disease. Blood 107(6):2279\u20132285. https:\/\/doi.org\/10.1182\/blood-2005-06-2373","journal-title":"Blood"},{"issue":"9","key":"12151_CR47","doi-asserted-by":"publisher","first-page":"886","DOI":"10.1056\/NEJMoa035477","volume":"350","author":"MT Gladwin","year":"2004","unstructured":"Gladwin MT, Sachdev V, Jison ML, Shizukuda Y, Plehn JF, Minter K et al (2004) Pulmonary hypertension as a risk factor for death in patients with sickle cell disease. N Engl J Med 350(9):886\u2013895. https:\/\/doi.org\/10.1056\/NEJMoa035477","journal-title":"N Engl J Med"},{"issue":"3","key":"12151_CR48","doi-asserted-by":"publisher","first-page":"464","DOI":"10.3324\/haematol.2012.068965","volume":"98","author":"M Nouraie","year":"2013","unstructured":"Nouraie M, Lee JS, Zhang Y, Kanias T, Zhao X, Xiong Z et al (2013) The relationship between the severity of hemolysis, clinical manifestations and risk of death in 415 patients with sickle cell anemia in the US and Europe. Haematologica 98(3):464\u2013472. https:\/\/doi.org\/10.3324\/haematol.2012.068965","journal-title":"Haematologica"},{"issue":"11","key":"12151_CR49","doi-asserted-by":"publisher","first-page":"E341","DOI":"10.1002\/ajh.27074","volume":"98","author":"M Di Mauro","year":"2023","unstructured":"Di Mauro M, El Hoss S, Nardo-Marino A, Stuart-Smith S, Strouboulis J, Gibson JS et al (2023) Males with sickle cell disease have higher risks of cerebrovascular disease, increased inflammation, and a reduced response to hydroxyurea. Am J Hematol 98(11):E341\u2013E344. https:\/\/doi.org\/10.1002\/ajh.27074","journal-title":"Am J Hematol"},{"key":"12151_CR50","doi-asserted-by":"publisher","first-page":"5304","DOI":"10.1182\/blood-2023-190193","volume":"142","author":"N Balachandran","year":"2023","unstructured":"Balachandran N, Jella S, Aston H, Boghani F, Gazza C, Hazenberg E et al (2023) Sex-related differences in fetal hemoglobin levels in sickle cell patients. Blood 142:5304\u20135304. https:\/\/doi.org\/10.1182\/blood-2023-190193","journal-title":"Blood"},{"issue":"4","key":"12151_CR51","doi-asserted-by":"publisher","first-page":"1111","DOI":"10.1182\/blood.v85.4.1111.bloodjournal8541111","volume":"85","author":"YC Chang","year":"1995","unstructured":"Chang YC, Smith KD, Moore RD, Serjeant GR, Dover GJ (1995) An analysis of fetal hemoglobin variation in sickle cell disease: the relative contributions of the X-linked factor, beta-globin haplotypes, alpha-globin gene number, gender, and age. Blood 85(4):1111\u20131117. https:\/\/doi.org\/10.1182\/blood.v85.4.1111.bloodjournal8541111","journal-title":"Blood"},{"issue":"4","key":"12151_CR52","doi-asserted-by":"publisher","first-page":"806","DOI":"10.1046\/j.1365-2141.1997.d01-2094","volume":"96","author":"YP Chang","year":"1997","unstructured":"Chang YP, Maier-Redelsperger M, Smith KD, Contu L, Ducroco R, de Montalembert M et al (1997) The relative importance of the X-linked FCP locus and beta-globin haplotypes in determining hemoglobin F levels: a study of SS patients homozygous for beta S haplotypes. Br J Haematol 96(4):806\u2013814. https:\/\/doi.org\/10.1046\/j.1365-2141.1997.d01-2094","journal-title":"Br J Haematol"},{"key":"12151_CR53","doi-asserted-by":"publisher","first-page":"1453","DOI":"10.1007\/s00277-020-04079-2","volume":"99","author":"RR Sales","year":"2020","unstructured":"Sales RR, Belisario AR, Faria G, Mendes F, Luizon MR, Viana MB (2020) Functional polymorphisms of BCL11A and HBS1L-MYB genes affect both fetal hemoglobin level and clinical outcomes in a cohort of children with sickle cell anemia. Ann Hematol 99:1453\u20131463","journal-title":"Ann Hematol"},{"key":"12151_CR54","doi-asserted-by":"publisher","first-page":"1201","DOI":"10.1007\/s00277-016-2675-1","volume":"95","author":"D Upadhye","year":"2016","unstructured":"Upadhye D, Jain D, Trivedi Y, Nadkarni A, Ghosh K, Colah R (2016) Influence of single nucleotide polymorphisms in the BCL11A and HBS1L-MYB gene on the HbF levels and clinical severity of sickle cell anaemia patients. Ann Hematol 95:1201\u20131203","journal-title":"Ann Hematol"},{"key":"12151_CR55","first-page":"425","volume":"21","author":"L Chaouch","year":"2016","unstructured":"Chaouch L, Moumni I, Ouragini H, Darragi I, Kalai M, Chaouachi D et al (2016) rs11886868 and rs4671393 of BCL11A associated with HbF level variation and modulate clinical events among sickle cell anemia patients. Hematol (United Kingdom) 21:425\u2013429","journal-title":"Hematol (United Kingdom)"},{"key":"12151_CR56","doi-asserted-by":"publisher","DOI":"10.1111\/bjh.70489","author":"GS Arcanjo","year":"2026","unstructured":"Arcanjo GS, Silva AP, Diniz MV, Domingos IF, Pereira-Martins DA, Ara\u00fajo AB et al (2026) A genetic risk score based on BCL11A and HBS1L-MYB variants predicts clinical severity in Brazilian sickle cell anaemia patients. Br J Haematol. https:\/\/doi.org\/10.1111\/bjh.70489. (bjh.70489)","journal-title":"Br J Haematol"},{"issue":"2","key":"12151_CR57","doi-asserted-by":"publisher","first-page":"e55709","DOI":"10.1371\/journal.pone.0055709","volume":"8","author":"NS Green","year":"2013","unstructured":"Green NS, Ender KL, Pashankar F, Driscoll C, Giardina PJ, Mullen CA et al (2013) Candidate sequence variants and fetal hemoglobin in children with sickle cell disease treated with hydroxyurea. PLoS ONE 8(2):e55709. https:\/\/doi.org\/10.1371\/journal.pone.0055709","journal-title":"PLoS ONE"},{"issue":"10","key":"12151_CR58","doi-asserted-by":"publisher","first-page":"5417","DOI":"10.3390\/ijerph18105417","volume":"18","author":"M Delgadinho","year":"2021","unstructured":"Delgadinho M, Ginete C, Santos B, Miranda A, Brito M (2021) Genotypic Diversity among Angolan Children with Sickle Cell Anemia. Int J Environ Res Public Health 18(10):5417. https:\/\/doi.org\/10.3390\/ijerph18105417","journal-title":"Int J Environ Res Public Health"},{"issue":"6155","key":"12151_CR59","doi-asserted-by":"publisher","first-page":"253","DOI":"10.1126\/science.1242088","volume":"342","author":"DE Bauer","year":"2013","unstructured":"Bauer DE, Kamran SC, Lessard S, Xu J, Fujiwara Y, Lin C et al (2013) An erythroid enhancer of BCL11A subject to genetic variation determines fetal hemoglobin level. Science 342(6155):253\u2013257. https:\/\/doi.org\/10.1126\/science.1242088","journal-title":"Science"},{"key":"12151_CR60","doi-asserted-by":"publisher","first-page":"1699","DOI":"10.1172\/JCI71520","volume":"124","author":"R Stadhouders","year":"2014","unstructured":"Stadhouders R, Aktuna S, Thongjuea S, Aghajanirefah A, Pourfarzad F, Van IJcken W et al (2014) HBS1L-MYB intergenic variants modulate fetal hemoglobin via long-range MYB enhancers. J Clin Invest 124:1699\u20131710","journal-title":"J Clin Invest"},{"key":"12151_CR61","doi-asserted-by":"publisher","first-page":"11346","DOI":"10.1073\/pnas.0611393104","volume":"104","author":"SL Thein","year":"2007","unstructured":"Thein SL, Menzel S, Peng X, Best S, Jiang J, Close J et al (2007) Intergenic variants of HBS1L-MYB are responsible for a major quantitative trait locus on chromosome 6q23 influencing fetal hemoglobin levels in adults. Proc Natl Acad Sci USA 104:11346\u201311351","journal-title":"Proc Natl Acad Sci USA"},{"issue":"5909","key":"12151_CR62","doi-asserted-by":"publisher","first-page":"1839","DOI":"10.1126\/science.1165409","volume":"322","author":"VG Sankaran","year":"2008","unstructured":"Sankaran VG, Menne TF, Xu J, Akie TE, Lettre G, Van Handel B et al (2008) Human fetal hemoglobin expression is regulated by the developmental stage-specific repressor BCL11A. Science 322(5909):1839\u20131842. https:\/\/doi.org\/10.1126\/science.1165409","journal-title":"Science"},{"key":"12151_CR63","doi-asserted-by":"publisher","first-page":"3","DOI":"10.34119\/bjhrv5n3-215","volume":"5","author":"WS Silva","year":"2022","unstructured":"Silva WS, Lopes TS, Reis DS, Barreto DPS, Silva GS, Oliveira TWS, Lucena RCS, Baptista AF (2022) Aspectos sociodemogr\u00e1ficos e cl\u00ednicos de pacientes com doen\u00e7as falciformes dos centros de refer\u00eancia em Salvador, Bahia. Brazilian J Health Rev 5:3. https:\/\/doi.org\/10.34119\/bjhrv5n3-215","journal-title":"Brazilian J Health Rev"},{"key":"12151_CR64","doi-asserted-by":"publisher","first-page":"70","DOI":"10.1002\/ajh.24680","volume":"92","author":"MM Aleluia","year":"2017","unstructured":"Aleluia MM, Santiago RP, Guarda CC, Fonseca TCC, Neves FI, Quinto RS, Figueiredo CVB, Yahou\u00e9d\u00e9hou SCMA, Oliveira RM, Ferreira JRD (2017) Genetic modulation of fetal hemoglobin in hydroxyurea-treated sickle cell anemia. Am J Hematol 92:5:70\u201372. https:\/\/doi.org\/10.1002\/ajh.24680","journal-title":"Am J Hematol"},{"key":"12151_CR65","doi-asserted-by":"publisher","first-page":"6197927","DOI":"10.1371\/journal.pone.0197927","volume":"13","author":"TA Adeyemo","year":"2018","unstructured":"Adeyemo TA, Ojewunmi OO, Oyetunji IA, Rooks H, Rees DC, Akinsulie AO, Akanmu AS, Thein SL, Menzel S (2018) A survey of genetic fetal-haemoglobin modifiers in Nigerian patients with sickle cell anaemia. PLoS ONE 13:6197927. https:\/\/doi.org\/10.1371\/journal.pone.0197927","journal-title":"PLoS ONE"},{"key":"12151_CR66","doi-asserted-by":"publisher","unstructured":"Lettre G, Sankaran VG, Bezerra MAC, Ara\u00fajo AS, Uda M, Sanna S, Cao A, Schlessinger D, Costa FF, Hirschhorn JN (2008) DNA polymorphisms at the BCL11A, HBS1L-MYB, and \u03b2- globin loci associate with fetal hemoglobin levels and pain crises in sickle cell disease. Proceedings of the National Academy of Sciences of the United States of America 105:33:11869\u201311874. https:\/\/doi.org\/10.1073\/pnas.0804799105","DOI":"10.1073\/pnas.0804799105"},{"issue":"7","key":"12151_CR67","doi-asserted-by":"publisher","first-page":"1453","DOI":"10.1007\/s00277-020-04079-2","volume":"99","author":"RR Sales","year":"2020","unstructured":"Sales RR, Belis\u00e1rio AR, Faria G, Mendes F, Luizon MR, Viana MB (2020) Functional polymorphisms of BCL11A and HBS1L-MYB genes affect both fetal hemoglobin level and clinical outcomes in a cohort of children with sickle cell anemia. Ann Hematol 99(7):1453\u20131463. https:\/\/doi.org\/10.1007\/s00277-020-04079-2","journal-title":"Ann Hematol"},{"issue":"4","key":"12151_CR68","doi-asserted-by":"publisher","first-page":"1699","DOI":"10.1172\/JCI71520","volume":"124","author":"R Stadhouders","year":"2014","unstructured":"Stadhouders R, Aktuna S, Thongjuea S, Aghajanirefah A, Pourfarzad F, van Ijcken W et al (2014) HBS1L-MYB intergenic variants modulate fetal hemoglobin via long-range MYB enhancers. J Clin Invest 124(4):1699\u20131710. https:\/\/doi.org\/10.1172\/JCI71520","journal-title":"J Clin Invest"},{"issue":"4","key":"12151_CR69","doi-asserted-by":"publisher","first-page":"245","DOI":"10.1038\/35066048","volume":"2","author":"DJ Weatherall","year":"2001","unstructured":"Weatherall DJ (2001) Phenotype-genotype relationships in monogenic disease: lessons from the thalassaemias. Nat Rev Genet 2(4):245\u2013255","journal-title":"Nat Rev Genet"},{"issue":"4","key":"12151_CR70","doi-asserted-by":"publisher","first-page":"245","DOI":"10.1038\/35066048","volume":"2","author":"DJ Weatherall","year":"2001","unstructured":"Weatherall DJ (2001) Phenotype-genotype relationships in monogenic disease: lessons from the thalassaemias. Nat Rev Genet 2(4):245\u2013255","journal-title":"Nat Rev Genet"},{"issue":"7","key":"12151_CR71","doi-asserted-by":"publisher","first-page":"523","DOI":"10.1038\/nrc2439","volume":"8","author":"RG Ramsay","year":"2008","unstructured":"Ramsay RG, Gonda RS (2008) MYB function in normal and cancer cells. Nat Rev Cancer 8(7):523\u2013534","journal-title":"Nat Rev Cancer"},{"issue":"Suppl","key":"12151_CR72","doi-asserted-by":"publisher","first-page":"522","DOI":"10.1038\/ng1036","volume":"32","author":"VS Cheung","year":"2002","unstructured":"Cheung VS, Spielman RS (2002) The genetics of variation in gene expression. Nat Genet 32(Suppl):522\u2013525","journal-title":"Nat Genet"},{"issue":"4","key":"12151_CR73","doi-asserted-by":"publisher","first-page":"1699","DOI":"10.1172\/JCI71520","volume":"124","author":"R Stadhouders","year":"2014","unstructured":"Stadhouders R et al (2014) HBS1L-MYB intergenic variants modulate fetal hemoglobin via long-range MYB enhancers. J Clin Invest 124(4):1699\u20131710","journal-title":"J Clin Invest"},{"key":"12151_CR74","doi-asserted-by":"publisher","first-page":"176","DOI":"10.1016\/j.bcmd.2014.07.006","volume":"53","author":"GL Cardoso","year":"2014","unstructured":"Cardoso GL et al (2014) DNA polymorphisms at BCL11A, HBS1L-MYB and Xmn1-HBG2 site loci associated with fetal hemoglobin levels in sickle cell anemia patients from Northern Brazil. Blood Cells Molecules Disease 53:176\u2013179","journal-title":"Blood Cells Molecules Disease"},{"key":"12151_CR75","doi-asserted-by":"publisher","first-page":"110","DOI":"10.1161\/CIRCGENETICS.113.000387","volume":"7","author":"JN Milton","year":"2014","unstructured":"Milton JN et al (2014) Prediction of fetal hemoglobin in sickle cell anemia using an ensemble of genetic risk prediction models. Circ Cardiovasc Genet 7:110\u2013115","journal-title":"Circ Cardiovasc Genet"},{"issue":"3","key":"12151_CR76","doi-asserted-by":"publisher","first-page":"224","DOI":"10.1016\/j.bcmd.2015.01.001","volume":"54","author":"P Sebastiani","year":"2015","unstructured":"Sebastiani P, Farrell JJ, Alsultan A, Wang S, Edward HL, Shappell H et al (2015) BCL11A enhancer haplotypes and fetal hemoglobin in sickle cell anemia. Blood Cells Mol Dis 54(3):224\u2013230. https:\/\/doi.org\/10.1016\/j.bcmd.2015.01.001","journal-title":"Blood Cells Mol Dis"},{"key":"12151_CR77","doi-asserted-by":"publisher","first-page":"70","DOI":"10.1002\/ajh.24680","volume":"92","author":"MM Aleluia","year":"2017","unstructured":"Aleluia MM, Santiago RP, Guarda CC, Fonseca TCC, Neves FI, Quinto RZ, Figueiredo CVB, Yahou\u00e9d\u00e9hou SCMA, Oliveira RM, Ferreira JRD et al (2017) Genetic modulation of fetal hemoglobin in hydroxyurea-treated sickle cell anemia. Am J Hematol 92:5:70\u201372. https:\/\/doi.org\/10.1002\/ajh.24680","journal-title":"Am J Hematol"},{"key":"12151_CR78","doi-asserted-by":"crossref","unstructured":"Sales RR, Nogueira BL, Belis\u00e1rio AR, Mendes F, Faria G, Viana MB, Luizon MR (2021) Hapl\u00f3tipos de BCL11A e HBS1L-MYB associados com concentra\u00e7\u00e3o elevada de hemoglobina fetal e intera\u00e7\u00e3o entre estes loci na predi\u00e7\u00e3o de desfechos cl\u00ednicos e hematol\u00f3gicos em crian\u00e7as com anemia falciforme. Hematology, transfusion and cell therapy 43:286\u2013287","DOI":"10.1016\/j.htct.2021.10.484"},{"key":"12151_CR79","doi-asserted-by":"publisher","unstructured":"Ropero P, Peral M, S\u00e1nchez-Mart\u00ednez LJ, Rochas S, G\u00f3mez-\u00c1lvarez M, Nieto JM et al (2025) Phenotype of sickle cell disease. Correlation of haplotypes and polymorphisms in cluster \u03b2, BCL11A, and HBS1L-MYB. Pilot study. Front Med (Lausanne) 12:1347026. https:\/\/doi.org\/10.3389\/fmed.2025.1347026","DOI":"10.3389\/fmed.2025.1347026"},{"issue":"5","key":"12151_CR80","doi-asserted-by":"publisher","first-page":"1084","DOI":"10.1016\/j.stemcr.2019.03.012","volume":"12","author":"C G\u00fcne\u015f","year":"2019","unstructured":"G\u00fcne\u015f C, Ramos-Merino L, Wu Y, Wangensteen KJ, Zaehres H, Ara\u00fazo-Bravo MJ, Heimann P, Bryja V, G\u00f6ke J, Chang T et al (2019) Comparative RNAi Screens in Isogenic Human Stem Cells Reveal SMARCA4 as a Differential Regulator. Stem Cell Rep 12(5):1084\u20131098. https:\/\/doi.org\/10.1016\/j.stemcr.2019.03.012","journal-title":"Stem Cell Rep"},{"key":"12151_CR81","doi-asserted-by":"publisher","unstructured":"\u021aichil I, Mitre I, Zdrenghea MT, Bojan AS, Tomuleasa CI, Cenariu D (2024) A review of key regulators of steady-state and ineffective erythropoiesis. J Clin Med 13(9):2585. https:\/\/doi.org\/10.3390\/jcm13092585","DOI":"10.3390\/jcm13092585"},{"issue":"22","key":"12151_CR82","doi-asserted-by":"publisher","first-page":"4575","DOI":"10.1182\/blood-2013-01-479451","volume":"121","author":"L Li","year":"2013","unstructured":"Li L, Freudenberg J, Cui K, Dale R, Song S-H, Dean A, Zhao K, Jothi R, Love PE (2013) Ldb1-nucleated transcription complexes function as primary mediators of global erythroid gene activation. Blood 121(22):4575\u20134585. https:\/\/doi.org\/10.1182\/blood-2013-01-479451","journal-title":"Blood"},{"issue":"12","key":"12151_CR83","doi-asserted-by":"publisher","first-page":"1278","DOI":"10.1101\/gad.239749.114","volume":"28","author":"I Krivega","year":"2014","unstructured":"Krivega I, Dale RK, Dean A (2014) Role of LDB1 in the transition from chromatin looping to transcription activation. Genes Dev 28(12):1278\u20131290. https:\/\/doi.org\/10.1101\/gad.239749.114","journal-title":"Genes Dev"},{"issue":"23","key":"12151_CR84","doi-asserted-by":"publisher","first-page":"2849","DOI":"10.1101\/gad.1364105","volume":"19","author":"SJ Bultman","year":"2005","unstructured":"Bultman SJ, Gebuhr TC, Magnuson T (2005) A Brg1 mutation that uncouples ATPase activity from chromatin remodeling reveals an essential role for SWI\/SNF-related complexes in beta- globin expression and erythroid development. Genes Dev 19(23):2849\u20132861. https:\/\/doi.org\/10.1101\/gad.1364105","journal-title":"Genes Dev"},{"issue":"4","key":"12151_CR85","doi-asserted-by":"publisher","first-page":"1334","DOI":"10.1128\/MCB.23.4.1334-1340.2003","volume":"23","author":"DL Letting","year":"2003","unstructured":"Letting DL, Rakowski C, Weiss MJ, Blobel GA (2003) Formation of a tissue-specific histone acetylation pattern by the hematopoietic transcription factor GATA-1. Mol Cell Biol 23(4):1334\u20131340. https:\/\/doi.org\/10.1128\/MCB.23.4.1334-1340.2003","journal-title":"Mol Cell Biol"},{"issue":"24","key":"12151_CR86","doi-asserted-by":"publisher","first-page":"3532","DOI":"10.1182\/blood.2021014308","volume":"139","author":"X Guo","year":"2022","unstructured":"Guo X, Zhao Y, Kim J, Dean A (2022) Hemogen\/BRG1 cooperativity modulates promoter and enhancer activation during erythropoiesis. Blood 139(24):3532\u20133545. https:\/\/doi.org\/10.1182\/blood.2021014308","journal-title":"Blood"},{"key":"12151_CR87","doi-asserted-by":"publisher","first-page":"701","DOI":"10.1038\/s10038-022-01079-0","volume":"67","author":"RR Sales","year":"2022","unstructured":"Sales RR, Nogueira BL, Belis\u00e1rio AR, Faria G, Mendes F, Viana MB, Luizon MR (2022) Fetal hemoglobin-boosting haplotypes of BCL11A gene and HBS1L-MYB intergenic region in the prediction of clinical and hematological outcomes in a cohort of children with sickle cell anemia. J Hum Genet 67:12:701\u2013709. https:\/\/doi.org\/10.1038\/s10038-022-01079-0","journal-title":"J Hum Genet"},{"key":"12151_CR88","doi-asserted-by":"publisher","first-page":"1379","DOI":"10.1182\/bloodadvances.2018028514","volume":"3:9","author":"N Steinauer","year":"2019","unstructured":"Steinauer N, Guo C, Huang C, Wong M, Tu Y, Freter CE, Zhang J (2019) Myeloid translocation gene CBFA2T3 directs a relapse gene program and determines patient-specific outcomes in AML. Blood Adv 3:9:1379\u20131393. https:\/\/doi.org\/10.1182\/bloodadvances.2018028514","journal-title":"Blood Adv"},{"issue":"16","key":"12151_CR89","doi-asserted-by":"publisher","first-page":"9029","DOI":"10.1093\/nar\/gkaa736","volume":"48","author":"CM Kiefer","year":"2020","unstructured":"Kiefer CM, Lee J, Hou C, Dale RK, Lee YT, Meier ER, Miller JL, Dean A (2020) Embryonic erythropoiesis and hemoglobin switching require transcriptional repressor ETO2 to modulate chromatin organization. Nucleic Acids Res 48(16):9029\u20139043. https:\/\/doi.org\/10.1093\/nar\/gkaa736","journal-title":"Nucleic Acids Res"}],"container-title":["Molecular Biology Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s11033-026-12151-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s11033-026-12151-9","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s11033-026-12151-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,6,23]],"date-time":"2026-06-23T11:57:16Z","timestamp":1782215836000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s11033-026-12151-9"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,6,23]]},"references-count":89,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2026,12]]}},"alternative-id":["12151"],"URL":"https:\/\/doi.org\/10.1007\/s11033-026-12151-9","relation":{},"ISSN":["0301-4851","1573-4978"],"issn-type":[{"value":"0301-4851","type":"print"},{"value":"1573-4978","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,6,23]]},"assertion":[{"value":"27 January 2026","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"8 June 2026","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"23 June 2026","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The authors declare no competing interests.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}},{"value":"All participants provided written consent to participate in the research, including those under 18 years of age, for whom written consent was obtained from their parents.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent to participate"}},{"value":"Not applicable.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent to publish"}},{"value":"This study has been approved by the Research Ethics Committee of the Federal University of Western Bahia - UFOB (CAAE 29075620.6.0000.5026) in accordance with the National Health Council Resolution number 466\/2012 (Ministry of Health \u2013 Brazil).","order":5,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical statement"}}],"article-number":"976"}}