Influence of beta-cluster haplotypes, alpha-gene status and UGTA1 polymorphism on clinical and hematological data in sickle-cell disease children from French Guiana
Objectives This cross-sectional study aimed to investigate the influence of haplotypes, alpha-gene status and UGTA1 polymorphism on the severity of sickle cell disease in children. Methods This cross-sectional study was conducted between 2012 and 2014 at the Cayenne Hospital, in French Guiana. Acute...
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| creator | Elenga, Narcisse Cuadro-Alvarez, Emma Martin, Elise Njuieyon, Falucar Defo, Antoine Maniassom, Chimène |
| description | Objectives This cross-sectional study aimed to investigate the influence of haplotypes, alpha-gene status and UGTA1 polymorphism on the severity of sickle cell disease in children. Methods This cross-sectional study was conducted between 2012 and 2014 at the Cayenne Hospital, in French Guiana. Acute clinical complications were grouped into (i) severe SCD defined by the presence of stroke and/or abnormal-transcranial Doppler (TCD), (ii) moderate SCD defined by the presence of at least three annual events requiring hospitalization and/or at least one acute chest syndrome, (iii) no severe SCD (in the absence of the precited events). Results Among the 86 patients, 33.7% were female with a median age of 10 years (range: 6–12 years). The vast majority of patients had SCA (HbSS) phenotype (74.4%; n = 64). The severe haplotype was found in 40% of patients. 30% were BEN/BEN. Analysis of α-globin gene deletions revealed that 32 patients (37.2%) were heterozygous (loss of 2 genes in 2 cases and loss of 1 gene in 30 cases) for α-thalassemia (3.7 kb deletion). Homozygous (TA) n TA7/7 was found in 24 (28%). In the multivariate analysis, the factors associated with the severity of sickle cell disease were the first vaso-occlusive crisis before one year of age (OR 25, [95% CI = 6.0–107.0], p80 fL (OR 0.20 [95% CI = 0.04–0.96], p = 0.04). The area of the ROC curve was 0.90. Conclusion Prospective studies with greater statistical power would provide more knowledge on the relationship between UGT1A1 mutations and the clinical and hematological manifestations of SCA. |
| doi_str_mv | 10.1371/journal.pone.0238691 |
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Methods This cross-sectional study was conducted between 2012 and 2014 at the Cayenne Hospital, in French Guiana. Acute clinical complications were grouped into (i) severe SCD defined by the presence of stroke and/or abnormal-transcranial Doppler (TCD), (ii) moderate SCD defined by the presence of at least three annual events requiring hospitalization and/or at least one acute chest syndrome, (iii) no severe SCD (in the absence of the precited events). Results Among the 86 patients, 33.7% were female with a median age of 10 years (range: 6–12 years). The vast majority of patients had SCA (HbSS) phenotype (74.4%; n = 64). The severe haplotype was found in 40% of patients. 30% were BEN/BEN. Analysis of α-globin gene deletions revealed that 32 patients (37.2%) were heterozygous (loss of 2 genes in 2 cases and loss of 1 gene in 30 cases) for α-thalassemia (3.7 kb deletion). Homozygous (TA) n TA7/7 was found in 24 (28%). In the multivariate analysis, the factors associated with the severity of sickle cell disease were the first vaso-occlusive crisis before one year of age (OR 25, [95% CI = 6.0–107.0], p<0.001) and a baseline MCV >80 fL (OR 0.20 [95% CI = 0.04–0.96], p = 0.04). The area of the ROC curve was 0.90. Conclusion Prospective studies with greater statistical power would provide more knowledge on the relationship between UGT1A1 mutations and the clinical and hematological manifestations of SCA.</description><identifier>ISSN: 1932-6203</identifier><identifier>EISSN: 1932-6203</identifier><identifier>DOI: 10.1371/journal.pone.0238691</identifier><identifier>PMID: 32881938</identifier><language>eng</language><publisher>San Francisco: Public Library of Science</publisher><subject>Biology and Life Sciences ; Children ; Complications ; Gallstones ; Gene deletion ; Gene polymorphism ; Haplotypes ; Hematology ; Hemoglobin ; Hospitals ; Medical records ; Medical screening ; Medicine and Health Sciences ; Multivariate analysis ; Mutation ; Patients ; Pediatrics ; People and Places ; Phenotypes ; Polymorphism ; Population ; Sickle cell disease ; Thalassemia ; Ultrasound</subject><ispartof>PloS one, 2020-09, Vol.15 (9), p.e0238691-e0238691</ispartof><rights>2020 Elenga et al. This is an open access article distributed under the terms of the Creative Commons Attribution License: http://creativecommons.org/licenses/by/4.0/ (the “License”), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.</rights><rights>2020 Elenga et al 2020 Elenga et al</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c503t-389885e715390e3433e0d87734cdcddb6325074d009e12112846d9a287deb8263</citedby><cites>FETCH-LOGICAL-c503t-389885e715390e3433e0d87734cdcddb6325074d009e12112846d9a287deb8263</cites><orcidid>0000-0003-0624-4180</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC7470392/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC7470392/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,314,727,780,784,864,885,2102,2928,23866,27924,27925,53791,53793,79600,79601</link.rule.ids></links><search><contributor>Grosso, Michela</contributor><creatorcontrib>Elenga, Narcisse</creatorcontrib><creatorcontrib>Cuadro-Alvarez, Emma</creatorcontrib><creatorcontrib>Martin, Elise</creatorcontrib><creatorcontrib>Njuieyon, Falucar</creatorcontrib><creatorcontrib>Defo, Antoine</creatorcontrib><creatorcontrib>Maniassom, Chimène</creatorcontrib><title>Influence of beta-cluster haplotypes, alpha-gene status and UGTA1 polymorphism on clinical and hematological data in sickle-cell disease children from French Guiana</title><title>PloS one</title><description>Objectives This cross-sectional study aimed to investigate the influence of haplotypes, alpha-gene status and UGTA1 polymorphism on the severity of sickle cell disease in children. Methods This cross-sectional study was conducted between 2012 and 2014 at the Cayenne Hospital, in French Guiana. Acute clinical complications were grouped into (i) severe SCD defined by the presence of stroke and/or abnormal-transcranial Doppler (TCD), (ii) moderate SCD defined by the presence of at least three annual events requiring hospitalization and/or at least one acute chest syndrome, (iii) no severe SCD (in the absence of the precited events). Results Among the 86 patients, 33.7% were female with a median age of 10 years (range: 6–12 years). The vast majority of patients had SCA (HbSS) phenotype (74.4%; n = 64). The severe haplotype was found in 40% of patients. 30% were BEN/BEN. Analysis of α-globin gene deletions revealed that 32 patients (37.2%) were heterozygous (loss of 2 genes in 2 cases and loss of 1 gene in 30 cases) for α-thalassemia (3.7 kb deletion). Homozygous (TA) n TA7/7 was found in 24 (28%). In the multivariate analysis, the factors associated with the severity of sickle cell disease were the first vaso-occlusive crisis before one year of age (OR 25, [95% CI = 6.0–107.0], p<0.001) and a baseline MCV >80 fL (OR 0.20 [95% CI = 0.04–0.96], p = 0.04). The area of the ROC curve was 0.90. Conclusion Prospective studies with greater statistical power would provide more knowledge on the relationship between UGT1A1 mutations and the clinical and hematological manifestations of SCA.</description><subject>Biology and Life Sciences</subject><subject>Children</subject><subject>Complications</subject><subject>Gallstones</subject><subject>Gene deletion</subject><subject>Gene polymorphism</subject><subject>Haplotypes</subject><subject>Hematology</subject><subject>Hemoglobin</subject><subject>Hospitals</subject><subject>Medical records</subject><subject>Medical screening</subject><subject>Medicine and Health Sciences</subject><subject>Multivariate analysis</subject><subject>Mutation</subject><subject>Patients</subject><subject>Pediatrics</subject><subject>People and Places</subject><subject>Phenotypes</subject><subject>Polymorphism</subject><subject>Population</subject><subject>Sickle cell 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of beta-cluster haplotypes, alpha-gene status and UGTA1 polymorphism on clinical and hematological data in sickle-cell disease children from French Guiana</title><author>Elenga, Narcisse ; Cuadro-Alvarez, Emma ; Martin, Elise ; Njuieyon, Falucar ; Defo, Antoine ; Maniassom, Chimène</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c503t-389885e715390e3433e0d87734cdcddb6325074d009e12112846d9a287deb8263</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2020</creationdate><topic>Biology and Life Sciences</topic><topic>Children</topic><topic>Complications</topic><topic>Gallstones</topic><topic>Gene deletion</topic><topic>Gene polymorphism</topic><topic>Haplotypes</topic><topic>Hematology</topic><topic>Hemoglobin</topic><topic>Hospitals</topic><topic>Medical records</topic><topic>Medical screening</topic><topic>Medicine and Health Sciences</topic><topic>Multivariate analysis</topic><topic>Mutation</topic><topic>Patients</topic><topic>Pediatrics</topic><topic>People and Places</topic><topic>Phenotypes</topic><topic>Polymorphism</topic><topic>Population</topic><topic>Sickle cell disease</topic><topic>Thalassemia</topic><topic>Ultrasound</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Elenga, Narcisse</creatorcontrib><creatorcontrib>Cuadro-Alvarez, Emma</creatorcontrib><creatorcontrib>Martin, Elise</creatorcontrib><creatorcontrib>Njuieyon, Falucar</creatorcontrib><creatorcontrib>Defo, Antoine</creatorcontrib><creatorcontrib>Maniassom, Chimène</creatorcontrib><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Animal Behavior Abstracts</collection><collection>Bacteriology Abstracts (Microbiology B)</collection><collection>Biotechnology Research Abstracts</collection><collection>Nursing & Allied Health Database</collection><collection>Ecology 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one</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Elenga, Narcisse</au><au>Cuadro-Alvarez, Emma</au><au>Martin, Elise</au><au>Njuieyon, Falucar</au><au>Defo, Antoine</au><au>Maniassom, Chimène</au><au>Grosso, Michela</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Influence of beta-cluster haplotypes, alpha-gene status and UGTA1 polymorphism on clinical and hematological data in sickle-cell disease children from French Guiana</atitle><jtitle>PloS one</jtitle><date>2020-09-03</date><risdate>2020</risdate><volume>15</volume><issue>9</issue><spage>e0238691</spage><epage>e0238691</epage><pages>e0238691-e0238691</pages><issn>1932-6203</issn><eissn>1932-6203</eissn><abstract>Objectives This cross-sectional study aimed to investigate the influence of haplotypes, alpha-gene status and UGTA1 polymorphism on the severity of sickle cell disease in children. Methods This cross-sectional study was conducted between 2012 and 2014 at the Cayenne Hospital, in French Guiana. Acute clinical complications were grouped into (i) severe SCD defined by the presence of stroke and/or abnormal-transcranial Doppler (TCD), (ii) moderate SCD defined by the presence of at least three annual events requiring hospitalization and/or at least one acute chest syndrome, (iii) no severe SCD (in the absence of the precited events). Results Among the 86 patients, 33.7% were female with a median age of 10 years (range: 6–12 years). The vast majority of patients had SCA (HbSS) phenotype (74.4%; n = 64). The severe haplotype was found in 40% of patients. 30% were BEN/BEN. Analysis of α-globin gene deletions revealed that 32 patients (37.2%) were heterozygous (loss of 2 genes in 2 cases and loss of 1 gene in 30 cases) for α-thalassemia (3.7 kb deletion). Homozygous (TA) n TA7/7 was found in 24 (28%). In the multivariate analysis, the factors associated with the severity of sickle cell disease were the first vaso-occlusive crisis before one year of age (OR 25, [95% CI = 6.0–107.0], p<0.001) and a baseline MCV >80 fL (OR 0.20 [95% CI = 0.04–0.96], p = 0.04). The area of the ROC curve was 0.90. Conclusion Prospective studies with greater statistical power would provide more knowledge on the relationship between UGT1A1 mutations and the clinical and hematological manifestations of SCA.</abstract><cop>San Francisco</cop><pub>Public Library of Science</pub><pmid>32881938</pmid><doi>10.1371/journal.pone.0238691</doi><orcidid>https://orcid.org/0000-0003-0624-4180</orcidid><oa>free_for_read</oa></addata></record> |
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| subjects | Biology and Life Sciences Children Complications Gallstones Gene deletion Gene polymorphism Haplotypes Hematology Hemoglobin Hospitals Medical records Medical screening Medicine and Health Sciences Multivariate analysis Mutation Patients Pediatrics People and Places Phenotypes Polymorphism Population Sickle cell disease Thalassemia Ultrasound |
| title | Influence of beta-cluster haplotypes, alpha-gene status and UGTA1 polymorphism on clinical and hematological data in sickle-cell disease children from French Guiana |
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