{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,20]],"date-time":"2026-09-20T03:29:25Z","timestamp":1789874965682,"version":"4.0.1"},"reference-count":52,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2017,12,3]],"date-time":"2017-12-03T00:00:00Z","timestamp":1512259200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["1U01HG007459\u201001"],"award-info":[{"award-number":["1U01HG007459\u201001"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Br J Haematol"],"published-print":{"date-parts":[[2018,1]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>We aimed to investigate the clinical and genetic predictors of painful vaso\u2010occlusive crises (<jats:styled-content style=\"fixed-case\">VOC<\/jats:styled-content>) in sickle cell disease (<jats:styled-content style=\"fixed-case\">SCD<\/jats:styled-content>) in Cameroon. Socio\u2010demographics, clinical variables\/events and haematological indices were acquired. Genotyping was performed for 40 variants in 17 pain\u2010related genes, three fetal haemoglobin (HbF)\u2010promoting loci, two kidney dysfunctions\u2010related genes<jats:italic>,<\/jats:italic> and <jats:italic><jats:styled-content style=\"fixed-case\">HBA<\/jats:styled-content>1<\/jats:italic>\/<jats:italic><jats:styled-content style=\"fixed-case\">HBA<\/jats:styled-content>2<\/jats:italic> genes. Statistical models using regression frameworks were performed in R<jats:sup>\u00ae<\/jats:sup>. A total of 436 hydoxycarbamide\u2010 and opioid\u2010na\u00efve patients were studied; median age was 16\u00a0years. Female sex, body mass index, Hb\/HbF, blood transfusions, leucocytosis and consultation or hospitalisation rates significantly correlated with <jats:styled-content style=\"fixed-case\">VOC<\/jats:styled-content>. Three pain\u2010related genes variants correlated with <jats:styled-content style=\"fixed-case\">VOC<\/jats:styled-content> (<jats:italic><jats:styled-content style=\"fixed-case\">CACNA<\/jats:styled-content>2D3<\/jats:italic>\u2010rs6777055, <jats:italic>P<\/jats:italic>\u00a0=\u00a00\u00b7025; <jats:italic><jats:styled-content style=\"fixed-case\">DRD<\/jats:styled-content>2<\/jats:italic>\u2010rs4274224, <jats:italic>P<\/jats:italic>\u00a0=\u00a00\u00b7037; <jats:italic><jats:styled-content style=\"fixed-case\">KCNS<\/jats:styled-content>1\u2010<\/jats:italic>rs734784, <jats:italic>P<\/jats:italic>\u00a0=\u00a00\u00b701). Five pain\u2010related genes variants correlated with hospitalisation\/consultation rates. (<jats:italic><jats:styled-content style=\"fixed-case\">COMT<\/jats:styled-content><\/jats:italic>\u2010rs6269, <jats:italic>P<\/jats:italic>\u00a0=\u00a00\u00b7027; <jats:italic><jats:styled-content style=\"fixed-case\">FAAH<\/jats:styled-content><\/jats:italic>\u2010rs4141964, <jats:italic>P<\/jats:italic>\u00a0=\u00a00\u00b7003; <jats:italic><jats:styled-content style=\"fixed-case\">OPRM<\/jats:styled-content>1<\/jats:italic>\u2010rs1799971, <jats:italic>P<\/jats:italic>\u00a0=\u00a00\u00b7031; <jats:italic><jats:styled-content style=\"fixed-case\">ADRB<\/jats:styled-content>2\u2010rs<\/jats:italic>1042713; <jats:italic>P<\/jats:italic>\u00a0&lt;\u00a00\u00b7001; <jats:italic><jats:styled-content style=\"fixed-case\">UGT<\/jats:styled-content>2B7<\/jats:italic>\u2010rs7438135, <jats:italic>P<\/jats:italic>\u00a0=\u00a00\u00b7037). The 3\u00b77\u00a0kb <jats:italic><jats:styled-content style=\"fixed-case\">HBA<\/jats:styled-content>1\/<jats:styled-content style=\"fixed-case\">HBA<\/jats:styled-content>2<\/jats:italic> deletion correlated with increased <jats:styled-content style=\"fixed-case\">VOC<\/jats:styled-content> (<jats:italic>P<\/jats:italic>\u00a0=\u00a00\u00b7002). HbF<jats:italic>\u2010<\/jats:italic>promoting loci variants correlated with decreased hospitalisation (<jats:italic><jats:styled-content style=\"fixed-case\">BCL<\/jats:styled-content>11A\u2010<\/jats:italic>rs4671393, <jats:italic>P<\/jats:italic>\u00a0=\u00a00\u00b7026; <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>\u2010rs28384513<jats:italic>, P\u00a0=\u00a0<\/jats:italic>0\u00b701). <jats:italic><jats:styled-content style=\"fixed-case\">APOL<\/jats:styled-content>1<\/jats:italic> G1\/G2 correlated with increased hospitalisation (<jats:italic>P<\/jats:italic>\u00a0=\u00a00\u00b7048). This first study from Africa has provided evidence supporting possible development of genetic risk model for pain in <jats:styled-content style=\"fixed-case\">SCD<\/jats:styled-content>.<\/jats:p>","DOI":"10.1111\/bjh.15011","type":"journal-article","created":{"date-parts":[[2017,12,5]],"date-time":"2017-12-05T10:25:03Z","timestamp":1512469503000},"page":"134-146","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":41,"title":["Clinical and genetic factors are associated with pain and hospitalisation rates in sickle cell anaemia in Cameroon"],"prefix":"10.1111","volume":"180","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1420-9051","authenticated-orcid":false,"given":"Ambroise","family":"Wonkam","sequence":"first","affiliation":[{"name":"Division of Human Genetics Department of Medicine Faculty of Health Sciences University of Cape Town Cape Town South Africa"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Khuthala","family":"Mnika","sequence":"additional","affiliation":[{"name":"Division of Human Genetics Department of Medicine Faculty of Health Sciences University of Cape Town Cape Town South Africa"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valentina J.","family":"Ngo Bitoungui","sequence":"additional","affiliation":[{"name":"Faculty of Medicine and Biomedical Sciences University of Yaound\u00e9 Yaound\u00e9 Cameroon"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bernard","family":"Chetcha Chemegni","sequence":"additional","affiliation":[{"name":"Faculty of Medicine and Biomedical Sciences University of Yaound\u00e9 Yaound\u00e9 Cameroon"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emile R.","family":"Chimusa","sequence":"additional","affiliation":[{"name":"Division of Human Genetics Department of Medicine Faculty of Health Sciences University of Cape Town Cape Town South Africa"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Collet","family":"Dandara","sequence":"additional","affiliation":[{"name":"Division of Human Genetics Department of Medicine Faculty of Health Sciences University of Cape Town Cape Town South Africa"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andre P.","family":"Kengne","sequence":"additional","affiliation":[{"name":"Non\u2010Communicable Diseases Research Unit South African Medical Research Council Cape Town South 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