Author | Aleluia, Milena Magalhães | |
Author | Fonseca, Teresa Cristina Cardoso | |
Author | Souza, Regiana Quinto | |
Author | Neves, Fábia Idalina | |
Author | Guarda, Caroline Conceição da | |
Author | Santiago, Rayra Pereira | |
Author | Cunha, Bruna Laís Almeida | |
Author | Figueiredo, Camylla Villas Boas | |
Author | Santana, Sânzio Silva | |
Author | Paz, Silvana Sousa da | |
Author | Ferreira, Júnia Raquel Dutra | |
Author | Cerqueira, Bruno Antonio Veloso | |
Author | Gonçalves, Marilda de Souza | |
Access date | 2017-10-23T18:25:49Z | |
Available date | 2017-10-23T18:25:49Z | |
Document date | 2017 | |
Citation | 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. | pt_BR |
ISSN | 2052-1839 | pt_BR |
URI | https://www.arca.fiocruz.br/handle/icict/22908 | |
Sponsorship | Instituto Gonçalo Moniz at the Fundação Oswaldo Cruz (IGM-FIOCRUZ – Bahia - Brazil) (CAAE 08452913.9.0000.0040). | pt_BR |
Language | eng | pt_BR |
Publisher | BioMed Central | pt_BR |
Rights | open access | pt_BR |
Subject in Portuguese | Anemia falciforme | pt_BR |
Subject in Portuguese | Doença de hemoglobina SC | pt_BR |
Subject in Portuguese | Biomarcadores | pt_BR |
Subject in Portuguese | Perfil genético | pt_BR |
Title | Comparative study of sickle cell anemia and hemoglobin SC disease: clinical characterization, laboratory biomarkers and genetic profiles | pt_BR |
Type | Article | pt_BR |
DOI | 10.1186/s12878-017-0087-7 | |
Abstract | 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. | pt_BR |
Affilliation | Fundação Oswaldo Cruz. Instituto Gonçalo Moniz. Laboratório de Hematologia, Genética e Biologia Computacional. Salvador, BA, Brasil / Universidade Federal da Bahia. Salvador, BA, Brasil. | pt_BR |
Affilliation | Centro de Referência a Doença Falciforme, Itabuna, BA, Brasil / Universidade Estadual de Santa Cruz. Ilhéus, BA, Brasil. | pt_BR |
Affilliation | Centro de Referência a Doença Falciforme, Itabuna, BA, Brasil / Universidade Estadual de Santa Cruz. Ilhéus, BA, Brasil. | pt_BR |
Affilliation | Centro de Referência a Doença Falciforme, Itabuna, BA, Brasil. | pt_BR |
Affilliation | Fundação Oswaldo Cruz. Instituto Gonçalo Moniz. Laboratório de Hematologia, Genética e Biologia Computacional. Salvador, BA, Brasil / Universidade Federal da Bahia. Salvador, BA, Brasil. | pt_BR |
Affilliation | Fundação Oswaldo Cruz. Instituto Gonçalo Moniz. Laboratório de Hematologia, Genética e Biologia Computacional. Salvador, BA, Brasil / Universidade Federal da Bahia. Salvador, BA, Brasil. | pt_BR |
Affilliation | Universidade Federal da Bahia. Salvador, BA, Brasil. | pt_BR |
Affilliation | Fundação Oswaldo Cruz. Instituto Gonçalo Moniz. Laboratório de Hematologia, Genética e Biologia Computacional. Salvador, BA, Brasil / Universidade Federal da Bahia. Salvador, BA, Brasil. | pt_BR |
Affilliation | Fundação Oswaldo Cruz. Instituto Gonçalo Moniz. Laboratório de Hematologia, Genética e Biologia Computacional. Salvador, BA, Brasil / Universidade Federal da Bahia. Salvador, BA, Brasil. | pt_BR |
Affilliation | Fundação Oswaldo Cruz. Instituto Gonçalo Moniz. Laboratório de Hematologia, Genética e Biologia Computacional. Salvador, BA, Brasil. | pt_BR |
Affilliation | Fundação Oswaldo Cruz. Instituto Gonçalo Moniz. Laboratório de Hematologia, Genética e Biologia Computacional. Salvador, BA, Brasil / Universidade Federal da Bahia. Salvador, BA, Brasil. | pt_BR |
Affilliation | Universidade Estadual da Bahia. Salvador, BA, Brasil. | pt_BR |
Affilliation | Fundação Oswaldo Cruz. Instituto Gonçalo Moniz. Laboratório de Hematologia, Genética e Biologia Computacional. Salvador, BA, Brasil / Universidade Federal da Bahia. Salvador, BA, Brasil. | pt_BR |
Subject | Sickle cell anemia | pt_BR |
Subject | Hemoglobin SC disease | pt_BR |
Subject | Biomarkers | pt_BR |
Subject | Genetic profile | pt_BR |