{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,20]],"date-time":"2026-09-20T19:35:10Z","timestamp":1789932910634,"version":"4.0.1"},"reference-count":44,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2019,7,19]],"date-time":"2019-07-19T00:00:00Z","timestamp":1563494400000},"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":["Pediatric Blood &amp; Cancer"],"published-print":{"date-parts":[[2019,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Our objective was to investigate the combined and differential effects of alpha\u2010thalassemia \u20133.7 kb deletion and HbF\u2010promoting quantitative trait loci (HbF\u2010QTL) in Senegalese hydroxyurea (HU)\u2010free children and young adults with sickle cell anemia (SCA).<\/jats:p><\/jats:sec><jats:sec><jats:title>Procedure<\/jats:title><jats:p>Steady\u2010state biological parameters and vaso\u2010occlusive crises (VOC) requiring emergency admission were recorded over a 2\u2010year period in 301 children with SCA. The age of the first hospitalized VOC was also recorded. These data were correlated with the alpha\u2010globin and HbF\u2010QTL genotypes. For the latter, three different genetic loci were studied (<jats:italic>XmnI<\/jats:italic>, rs7482144; <jats:italic>BCL11A<\/jats:italic>, rs1427407; and the <jats:italic>HBS1L\u2010MYB<\/jats:italic> region, rs28384513) and a composite score was calculated, ranging from zero (none of these three polymorphisms) to six (all three polymorphisms at the homozygous state).<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>: A positive clinical impact of the HbF\u2010QTL score on VOC rate, HbF, leucocytes, and C\u2010reactive protein levels was observed only for patients without alpha\u2010thalassemia deletion. Conversely, combination of homozygous \u20133.7 kb deletion with three to six HbF\u2010QTL was associated with a higher VOC rate. The age of the first hospitalized VOC was delayed for patients with one or two alpha\u2010thalassemia deletions and at least two HbF\u2010QTL.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Alpha\u2010thalassemia \u20133.7 kb deletion and HbF\u2010QTL are modulating factors of SCA clinical severity that interact with each other. They should be studied and interpreted together and not separately, at least in HU\u2010free children.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pbc.27934","type":"journal-article","created":{"date-parts":[[2019,7,19]],"date-time":"2019-07-19T12:50:49Z","timestamp":1563540649000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Combined and differential effects of alpha\u2010thalassemia and HbF\u2010quantitative trait loci in Senegalese hydroxyurea\u2010free children with sickle cell anemia"],"prefix":"10.1002","volume":"66","author":[{"given":"Fatou","family":"Gueye Tall","sequence":"first","affiliation":[{"name":"Laboratoire de Biochimie Pharmaceutique\u2010FMPO Universit\u00e9 Cheikh Anta Diop  Dakar S\u00e9n\u00e9gal"},{"name":"Laboratoire Interuniversitaire de Biologie de la Motricit\u00e9 (LIBM) EA7424 Equipe \u201cBiologie vasculaire et du globule rouge\u201d Universit\u00e9 Claude Bernard Lyon 1, COMUE, Lyon  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