Aleluia Milena Magalhães, Fonseca Teresa Cristina Cardoso, Souza Regiana Quinto, Neves Fábia Idalina, da Guarda Caroline Conceição, Santiago Rayra Pereira, Cunha Bruna Laís Almeida, Figueiredo Camylla Villas Boas, Santana Sânzio Silva, da Paz Silvana Sousa, Ferreira Júnia Raquel Dutra, Cerqueira Bruno Antônio Veloso, Gonçalves Marilda de Souza
Laboratório de Hematologia e Genética Computacional, Instituto Gonçalo Moniz - IGM, Fundação Oswaldo Cruz (Fiocruz), Rua Waldemar Falcão, 121, Candeal, Salvador, Bahia CEP, 40296-710 Brazil.
Universidade Federal da Bahia (UFBA), Salvador, Bahia, Brazil.
BMC Hematol. 2017 Sep 15;17:15. doi: 10.1186/s12878-017-0087-7. eCollection 2017.
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.
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 β-globin gene haplotypes and the 3.7 Kb deletion of α-thalassemia (-α-thal), as well as the occurrence of clinical events in both SCD genotypes.
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 -α-thal prevalence was 0.09 (9%), and it was associated with elevated hemoglobin and hematocrit concentrations. Clinical events were more frequent in SCA patients.
Our data emphasize the differences between SCA and HbSC patients based on laboratory parameters and the clinical and genetic profile of both genotypes.
在本研究中，我们评估了镰状细胞贫血（SCA）和血红蛋白SC病（HbSC）患者不同的临床特征、实验室及遗传生物标志物之间的关联，以试图对镰状细胞病（SCD）基因型进行特征描述。
我们在2013年至2014年对200例SCD个体（141例SCA患者；59例HbSC患者）进行了一项横断面研究，并分析了人口统计学数据以描述研究人群特征。此外，我们确定了血液学、生化和遗传标志物之间的关联，包括β-珠蛋白基因单倍型和α-地中海贫血（-α-地贫）的3.7 Kb缺失，以及两种SCD基因型中临床事件的发生情况。
实验室参数显示，SCA个体存在与内皮功能障碍相关的溶血特征；然而，HbSC基因型与血液粘度增加和炎症状态的关联更为密切。BEN单倍型是最常观察到的，且与胎儿血红蛋白（HbF）升高和S血红蛋白（HbS）降低有关。-α-地贫的患病率为0.09（9%），且与血红蛋白和血细胞比容浓度升高有关。临床事件在SCA患者中更为频繁。
我们的数据强调了基于实验室参数以及两种基因型的临床和遗传特征，SCA和HbSC患者之间存在差异。
