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Marked by four jointly inherited variants (rs3780367, rs10974944, rs12343867, and rs1159782), this haplotype has a strong association with the development of BCR-ABL1-negative myeloproliferative neoplasms (MPNs) because it precedes the acquisition of the JAK2V617F variant, a common genetic alteration in individuals with these hematological malignancies. It is also described as one of the factors that increases the risk of familial MPNs by more than five times, 46\/1 is associated with events related to inflammatory dysregulation, splenomegaly, splanchnic vein thrombosis, Budd\u2013Chiari syndrome, increases in RBC count, platelets, leukocytes, hematocrit, and hemoglobin, which are characteristic of MPNs, as well as other findings that are still being elucidated and which are of great interest for the etiopathological understanding of these hematological neoplasms. Considering these factors, the present review aims to describe the main findings and discussions involving the 46\/1 haplotype, and highlights the molecular and immunological aspects and their relevance as a tool for clinical practice and investigation of familial cases.<\/jats:p>","DOI":"10.3390\/ijms232012582","type":"journal-article","created":{"date-parts":[[2022,10,20]],"date-time":"2022-10-20T22:49:46Z","timestamp":1666306186000},"page":"12582","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["The Contribution of JAK2 46\/1 Haplotype in the Predisposition to Myeloproliferative Neoplasms"],"prefix":"10.3390","volume":"23","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5639-7041","authenticated-orcid":false,"given":"Jhemerson","family":"Paes","sequence":"first","affiliation":[{"name":"Programa de P\u00f3s-Gradua\u00e7\u00e3o em Ci\u00eancias Aplicadas \u00e0 Hematologia, Universidade do Estado do Amazonas (UEA), Manaus 69850-000, AM, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9803-1996","authenticated-orcid":false,"given":"George A. V.","family":"Silva","sequence":"additional","affiliation":[{"name":"Programa de P\u00f3s-Gradua\u00e7\u00e3o em Ci\u00eancias Aplicadas \u00e0 Hematologia, Universidade do Estado do Amazonas (UEA), Manaus 69850-000, AM, Brazil"},{"name":"Funda\u00e7\u00e3o Hospitalar de Hematologia e Hemoterapia do Amazonas (FHEMOAM), Manaus 69050-001, AM, Brazil"},{"name":"Funda\u00e7\u00e3o Oswaldo Cruz\u2013Instituto Le\u00f4nidas e Maria Deane (Fiocruz), Manaus 69027-070, AM, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3125-580X","authenticated-orcid":false,"given":"Andr\u00e9a M.","family":"Tarrag\u00f4","sequence":"additional","affiliation":[{"name":"Programa de P\u00f3s-Gradua\u00e7\u00e3o em Ci\u00eancias Aplicadas \u00e0 Hematologia, Universidade do Estado do Amazonas (UEA), Manaus 69850-000, AM, Brazil"},{"name":"Funda\u00e7\u00e3o Hospitalar de Hematologia e Hemoterapia do Amazonas (FHEMOAM), Manaus 69050-001, AM, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3121-6667","authenticated-orcid":false,"given":"Lucivana P. de Souza","family":"Mour\u00e3o","sequence":"additional","affiliation":[{"name":"Programa de P\u00f3s-Gradua\u00e7\u00e3o em Ci\u00eancias Aplicadas \u00e0 Hematologia, Universidade do Estado do Amazonas (UEA), Manaus 69850-000, AM, Brazil"},{"name":"Funda\u00e7\u00e3o Hospitalar de Hematologia e Hemoterapia do Amazonas (FHEMOAM), Manaus 69050-001, AM, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2022,10,20]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"769","DOI":"10.1038\/s41586-020-2786-7","article-title":"Inherited myeloproliferative neoplasm risk impacts hematopoietic stem cells","volume":"586","author":"Bao","year":"2021","journal-title":"Nature"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"1653","DOI":"10.1007\/s00277-017-3082-y","article-title":"The impact of myeloproliferative neoplasms (MPNs) on patient quality of life and productivity: Results from the international MPN Landmark survey","volume":"96","author":"Harrison","year":"2017","journal-title":"Ann. 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