{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,4]],"date-time":"2026-09-04T23:26:16Z","timestamp":1788564376356,"version":"build-2803163510"},"reference-count":7,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2013,5,29]],"date-time":"2013-05-29T00:00:00Z","timestamp":1369785600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Br J Haematol"],"published-print":{"date-parts":[[2013,8]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Patients with inherited bone marrow failure syndromes (<jats:styled-content style=\"fixed-case\">IBMFS<\/jats:styled-content>) have \u2018stress erythropoiesis\u2019, with anaemia, macrocytosis, increased fetal haemoglobin (Hb F) and high erythropoietin levels. In haemoglobinopathies, Hb F levels are regulated by 3 quantitative trait loci, <jats:italic><jats:styled-content style=\"fixed-case\">HBS<\/jats:styled-content>1L\u2010<jats:styled-content style=\"fixed-case\">MYB<\/jats:styled-content><\/jats:italic>,<jats:italic> <jats:styled-content style=\"fixed-case\">BCL<\/jats:styled-content>11A<\/jats:italic> and Xmn1<jats:italic>\u2010<jats:styled-content style=\"fixed-case\">HBG<\/jats:styled-content>2<\/jats:italic>. In our study of 97 patients with an <jats:styled-content style=\"fixed-case\">IBMFS<\/jats:styled-content>, increased Hb F was associated with young age, male gender, anaemia, high erythropoietin levels, and alternative alleles in Xmn1<jats:italic>\u2010<jats:styled-content style=\"fixed-case\">HBG<\/jats:styled-content>2<\/jats:italic> [adjusted <jats:italic>P<\/jats:italic>\u00a0=\u00a00\u00b704 for the total group, driven by Fanconi anaemia (<jats:italic>P<\/jats:italic>\u00a0=\u00a00\u00b702) and dyskeratosis congenita (<jats:italic>P<\/jats:italic>\u00a0=\u00a00\u00b709)]. Thus Hb F is regulated in <jats:styled-content style=\"fixed-case\">IBMFS<\/jats:styled-content> by Xmn1<jats:italic>\u2010<jats:styled-content style=\"fixed-case\">HBG<\/jats:styled-content>2,<\/jats:italic> as it is in the haemoglobinopathies.<\/jats:p>","DOI":"10.1111\/bjh.12399","type":"journal-article","created":{"date-parts":[[2013,5,29]],"date-time":"2013-05-29T08:16:13Z","timestamp":1369815373000},"page":"542-546","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":29,"title":["Genetic regulation of fetal haemoglobin in inherited bone marrow failure syndromes"],"prefix":"10.1111","volume":"162","author":[{"given":"Blanche P.","family":"Alter","sequence":"first","affiliation":[{"name":"Clinical Genetics Branch Division of Clinical Epidemiology and Genetics National Cancer Institute Bethesda MD USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philip S.","family":"Rosenberg","sequence":"additional","affiliation":[{"name":"Biostatistics Branch Division of Clinical Epidemiology and Genetics National Cancer Institute Bethesda MD USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Day","sequence":"additional","affiliation":[{"name":"Department of Molecular Haematology King's College London London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephan","family":"Menzel","sequence":"additional","affiliation":[{"name":"Department of Molecular Haematology King's College London London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Neelam","family":"Giri","sequence":"additional","affiliation":[{"name":"Clinical Genetics Branch Division of Clinical Epidemiology and Genetics National Cancer Institute Bethesda MD USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sharon A.","family":"Savage","sequence":"additional","affiliation":[{"name":"Clinical Genetics Branch Division of Clinical Epidemiology and Genetics National Cancer Institute Bethesda MD USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Swee Lay","family":"Thein","sequence":"additional","affiliation":[{"name":"Department of Molecular Haematology King's College London London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,5,29]]},"reference":[{"issue":"5","key":"e_1_2_6_2_1","first-page":"200","article-title":"Fetal erythropoiesis in stress hematopoiesis","volume":"7","author":"Alter B.P.","year":"1979","journal-title":"Experimental Hematology"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0004218"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(79)80344-3"},{"key":"e_1_2_6_5_1","doi-asserted-by":"crossref","first-page":"532","DOI":"10.1007\/978-1-4899-3242-6","volume-title":"Generalized Linear Models","author":"Mccullagh P.","year":"1989"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.blre.2010.03.002"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddp401"},{"key":"e_1_2_6_8_1","first-page":"410","volume-title":"Aplastic Anemia: Acquired and Inherited","author":"Young N.S.","year":"1994"}],"container-title":["British Journal of Haematology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fbjh.12399","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/bjh.12399","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,2]],"date-time":"2023-10-02T21:01:20Z","timestamp":1696280480000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/bjh.12399"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,5,29]]},"references-count":7,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2013,8]]}},"alternative-id":["10.1111\/bjh.12399"],"URL":"https:\/\/doi.org\/10.1111\/bjh.12399","archive":["Portico"],"relation":{},"ISSN":["0007-1048","1365-2141"],"issn-type":[{"value":"0007-1048","type":"print"},{"value":"1365-2141","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,5,29]]},"assertion":[{"value":"2013-02-12","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2013-04-18","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2013-05-29","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}