Comparative study of sickle cell anemia and hemoglobin SC disease: clinical characterization, laboratory biomarkers and genetic profiles
| Main Author: | |
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| Publication Date: | 2017 |
| Other Authors: | , , , , , , , , , , , |
| Format: | Article |
| Language: | eng |
| Source: | Repositório Institucional da FIOCRUZ (ARCA) |
| Download full: | https://www.arca.fiocruz.br/handle/icict/22908 |
Summary: | Instituto Gonçalo Moniz at the Fundação Oswaldo Cruz (IGM-FIOCRUZ – Bahia - Brazil) (CAAE 08452913.9.0000.0040). |
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Aleluia, Milena MagalhãesFonseca, Teresa Cristina CardosoSouza, Regiana QuintoNeves, Fábia IdalinaGuarda, Caroline Conceição daSantiago, Rayra PereiraCunha, Bruna Laís AlmeidaFigueiredo, Camylla Villas BoasSantana, Sânzio SilvaPaz, Silvana Sousa daFerreira, Júnia Raquel DutraCerqueira, Bruno Antonio VelosoGonçalves, Marilda de Souza2017-10-23T18:25:49Z2017-10-23T18:25:49Z2017ALELUIA, Milena Magalhães et al. Comparative study of sickle cell anemia and hemoglobin SC disease: clinical characterization, laboratory biomarkers and genetic profiles. BMC Hematology, v. 17, p. 1-10, 2017.2052-1839https://www.arca.fiocruz.br/handle/icict/2290810.1186/s12878-017-0087-7Instituto Gonçalo Moniz at the Fundação Oswaldo Cruz (IGM-FIOCRUZ – Bahia - Brazil) (CAAE 08452913.9.0000.0040).Fundação Oswaldo Cruz. Instituto Gonçalo Moniz. Laboratório de Hematologia, Genética e Biologia Computacional. Salvador, BA, Brasil / Universidade Federal da Bahia. Salvador, BA, Brasil.Centro de Referência a Doença Falciforme, Itabuna, BA, Brasil / Universidade Estadual de Santa Cruz. Ilhéus, BA, Brasil.Centro de Referência a Doença Falciforme, Itabuna, BA, Brasil / Universidade Estadual de Santa Cruz. Ilhéus, BA, Brasil.Centro de Referência a Doença Falciforme, Itabuna, BA, Brasil.Fundação Oswaldo Cruz. Instituto Gonçalo Moniz. Laboratório de Hematologia, Genética e Biologia Computacional. Salvador, BA, Brasil / Universidade Federal da Bahia. Salvador, BA, Brasil.Fundação Oswaldo Cruz. Instituto Gonçalo Moniz. Laboratório de Hematologia, Genética e Biologia Computacional. Salvador, BA, Brasil / Universidade Federal da Bahia. Salvador, BA, Brasil.Universidade Federal da Bahia. Salvador, BA, Brasil.Fundação Oswaldo Cruz. Instituto Gonçalo Moniz. Laboratório de Hematologia, Genética e Biologia Computacional. Salvador, BA, Brasil / Universidade Federal da Bahia. Salvador, BA, Brasil.Fundação Oswaldo Cruz. Instituto Gonçalo Moniz. Laboratório de Hematologia, Genética e Biologia Computacional. Salvador, BA, Brasil / Universidade Federal da Bahia. Salvador, BA, Brasil.Fundação Oswaldo Cruz. Instituto Gonçalo Moniz. Laboratório de Hematologia, Genética e Biologia Computacional. Salvador, BA, Brasil.Fundação Oswaldo Cruz. Instituto Gonçalo Moniz. Laboratório de Hematologia, Genética e Biologia Computacional. Salvador, BA, Brasil / Universidade Federal da Bahia. Salvador, BA, Brasil.Universidade Estadual da Bahia. Salvador, BA, Brasil.Fundação Oswaldo Cruz. Instituto Gonçalo Moniz. Laboratório de Hematologia, Genética e Biologia Computacional. Salvador, BA, Brasil / Universidade Federal da Bahia. Salvador, BA, Brasil.In this study, we evaluate the association of different clinical profiles, laboratory and genetic biomarkers in patients with sickle cell anemia (SCA) and hemoglobin SC disease (HbSC) in attempt to characterize the sickle cell disease (SCD) genotypes. Methods: We conducted a cross-sectional study from 2013 to 2014 in 200 SCD individuals (141 with SCA; 59 with HbSC) and analyzed demographic data to characterize the study population. In addition, we determined the association of hematological, biochemical and genetic markers including the βS-globin gene haplotypes and the 3.7 Kb deletion of α-thalassemia (−α3.7Kb-thal), as well as the occurrence of clinical events in both SCD genotypes. Results: Laboratory parameters showed a hemolytic profile associated with endothelial dysfunction in SCA individuals; however, the HbSC genotype was more associated with increased blood viscosity and inflammatory conditions. The BEN haplotype was the most frequently observed and was associated with elevated fetal hemoglobin (HbF) and low S hemoglobin (HbS). The -α3.7Kb-thal prevalence was 0.09 (9%), and it was associated with elevated hemoglobin and hematocrit concentrations. Clinical events were more frequent in SCA patients. Conclusions: Our data emphasize the differences between SCA and HbSC patients based on laboratory parameters and the clinical and genetic profile of both genotypes.engBioMed CentralAnemia falciformeDoença de hemoglobina SCBiomarcadoresPerfil genéticoSickle cell anemiaHemoglobin SC diseaseBiomarkersGenetic profileComparative study of sickle cell anemia and hemoglobin SC disease: clinical characterization, laboratory biomarkers and genetic profilesinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleinfo:eu-repo/semantics/openAccessreponame:Repositório Institucional da FIOCRUZ (ARCA)instname:Fundação Oswaldo Cruz (FIOCRUZ)instacron:FIOCRUZLICENSElicense.txtlicense.txttext/plain; charset=utf-82991https://www.arca.fiocruz.br/bitstream/icict/22908/1/license.txt5a560609d32a3863062d77ff32785d58MD51ORIGINALAleluia MM Comparative study....pdfAleluia MM Comparative study....pdfapplication/pdf800893https://www.arca.fiocruz.br/bitstream/icict/22908/2/Aleluia%20MM%20Comparative%20study....pdfc8b80a42b919e25ef0df820d0d961c28MD52TEXTAleluia MM Comparative study....pdf.txtAleluia MM Comparative study....pdf.txtExtracted texttext/plain41996https://www.arca.fiocruz.br/bitstream/icict/22908/3/Aleluia%20MM%20Comparative%20study....pdf.txte75a7d8917781019f29d0f9e54389b07MD53icict/229082023-03-15 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| dc.title.pt_BR.fl_str_mv |
Comparative study of sickle cell anemia and hemoglobin SC disease: clinical characterization, laboratory biomarkers and genetic profiles |
| title |
Comparative study of sickle cell anemia and hemoglobin SC disease: clinical characterization, laboratory biomarkers and genetic profiles |
| spellingShingle |
Comparative study of sickle cell anemia and hemoglobin SC disease: clinical characterization, laboratory biomarkers and genetic profiles Aleluia, Milena Magalhães Anemia falciforme Doença de hemoglobina SC Biomarcadores Perfil genético Sickle cell anemia Hemoglobin SC disease Biomarkers Genetic profile |
| title_short |
Comparative study of sickle cell anemia and hemoglobin SC disease: clinical characterization, laboratory biomarkers and genetic profiles |
| title_full |
Comparative study of sickle cell anemia and hemoglobin SC disease: clinical characterization, laboratory biomarkers and genetic profiles |
| title_fullStr |
Comparative study of sickle cell anemia and hemoglobin SC disease: clinical characterization, laboratory biomarkers and genetic profiles |
| title_full_unstemmed |
Comparative study of sickle cell anemia and hemoglobin SC disease: clinical characterization, laboratory biomarkers and genetic profiles |
| title_sort |
Comparative study of sickle cell anemia and hemoglobin SC disease: clinical characterization, laboratory biomarkers and genetic profiles |
| author |
Aleluia, Milena Magalhães |
| author_facet |
Aleluia, Milena Magalhães Fonseca, Teresa Cristina Cardoso Souza, Regiana Quinto Neves, Fábia Idalina Guarda, Caroline Conceição da Santiago, Rayra Pereira Cunha, Bruna Laís Almeida Figueiredo, Camylla Villas Boas Santana, Sânzio Silva Paz, Silvana Sousa da Ferreira, Júnia Raquel Dutra Cerqueira, Bruno Antonio Veloso Gonçalves, Marilda de Souza |
| author_role |
author |
| author2 |
Fonseca, Teresa Cristina Cardoso Souza, Regiana Quinto Neves, Fábia Idalina Guarda, Caroline Conceição da Santiago, Rayra Pereira Cunha, Bruna Laís Almeida Figueiredo, Camylla Villas Boas Santana, Sânzio Silva Paz, Silvana Sousa da Ferreira, Júnia Raquel Dutra Cerqueira, Bruno Antonio Veloso Gonçalves, Marilda de Souza |
| author2_role |
author author author author author author author author author author author author |
| dc.contributor.author.fl_str_mv |
Aleluia, Milena Magalhães Fonseca, Teresa Cristina Cardoso Souza, Regiana Quinto Neves, Fábia Idalina Guarda, Caroline Conceição da Santiago, Rayra Pereira Cunha, Bruna Laís Almeida Figueiredo, Camylla Villas Boas Santana, Sânzio Silva Paz, Silvana Sousa da Ferreira, Júnia Raquel Dutra Cerqueira, Bruno Antonio Veloso Gonçalves, Marilda de Souza |
| dc.subject.other.pt_BR.fl_str_mv |
Anemia falciforme Doença de hemoglobina SC Biomarcadores Perfil genético |
| topic |
Anemia falciforme Doença de hemoglobina SC Biomarcadores Perfil genético Sickle cell anemia Hemoglobin SC disease Biomarkers Genetic profile |
| dc.subject.en.pt_BR.fl_str_mv |
Sickle cell anemia Hemoglobin SC disease Biomarkers Genetic profile |
| description |
Instituto Gonçalo Moniz at the Fundação Oswaldo Cruz (IGM-FIOCRUZ – Bahia - Brazil) (CAAE 08452913.9.0000.0040). |
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2017 |
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2017-10-23T18:25:49Z |
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2017-10-23T18:25:49Z |
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2017 |
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info:eu-repo/semantics/publishedVersion |
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info:eu-repo/semantics/article |
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article |
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publishedVersion |
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ALELUIA, Milena Magalhães et al. Comparative study of sickle cell anemia and hemoglobin SC disease: clinical characterization, laboratory biomarkers and genetic profiles. BMC Hematology, v. 17, p. 1-10, 2017. |
| dc.identifier.uri.fl_str_mv |
https://www.arca.fiocruz.br/handle/icict/22908 |
| dc.identifier.issn.pt_BR.fl_str_mv |
2052-1839 |
| dc.identifier.doi.none.fl_str_mv |
10.1186/s12878-017-0087-7 |
| identifier_str_mv |
ALELUIA, Milena Magalhães et al. Comparative study of sickle cell anemia and hemoglobin SC disease: clinical characterization, laboratory biomarkers and genetic profiles. BMC Hematology, v. 17, p. 1-10, 2017. 2052-1839 10.1186/s12878-017-0087-7 |
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BioMed Central |
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BioMed Central |
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