Comparative study of sickle cell anemia and hemoglobin SC disease: clinical characterization, laboratory biomarkers and genetic profiles

BMC Hematology

Research Article

Fábia Idalina Neves¹  Teresa Cristina Cardoso Fonseca²  Regiana Quinto Souza²  Silvana Sousa da Paz³  Caroline Conceição da Guarda⁴  Camylla Villas Boas Figueiredo⁴  Marilda de Souza Gonçalves⁴  Júnia Raquel Dutra Ferreira⁴  Milena Magalhães Aleluia⁴  Rayra Pereira Santiago⁴  Sânzio Silva Santana⁴  Bruno Antônio Veloso Cerqueira⁵  Bruna Laís Almeida Cunha⁶ 

[1] Centro de Referência a Doença Falciforme, Itabuna, Bahia, Brazil;Centro de Referência a Doença Falciforme, Itabuna, Bahia, Brazil;Universidade Estadual de Santa Cruz (UESC), Ilhéus, Bahia, Brazil;Laboratório de Hematologia e Genética Computacional, Instituto Gonçalo Moniz - IGM, Fundação Oswaldo Cruz (Fiocruz), Rua Waldemar Falcão, 121, Candeal, 40296-710, Salvador, Bahia CEP, Brazil;Laboratório de Hematologia e Genética Computacional, Instituto Gonçalo Moniz - IGM, Fundação Oswaldo Cruz (Fiocruz), Rua Waldemar Falcão, 121, Candeal, 40296-710, Salvador, Bahia CEP, Brazil;Universidade Federal da Bahia (UFBA), Salvador, Bahia, Brazil;Universidade Estadual da Bahia (UNEB), Salvador, Bahia, Brazil;Universidade Federal da Bahia (UFBA), Salvador, Bahia, Brazil;

关键词: Sickle cell anemia;    Hemoglobin SC disease;    Biomarkers;    Genetic profile;   

DOI  :  10.1186/s12878-017-0087-7

 received in 2016-12-23, accepted in 2017-09-05,  发布年份 2017

来源: Springer

【 摘 要 】

BackgroundIn 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.MethodsWe 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.ResultsLaboratory 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.ConclusionsOur data emphasize the differences between SCA and HbSC patients based on laboratory parameters and the clinical and genetic profile of both genotypes.

【 授权许可】

CC BY   
© The Author(s). 2017