Milena Magalhães Aleluia, Teresa Cristina Cardoso Fonseca, Regiana Quinto Souza, Fábia Idalina Neves, Caroline Conceição da Guarda, Rayra Pereira Santiago, Bruna Laís Almeida Cunha, Camylla Villas Boas Figueiredo, Sânzio Silva Santana, Silvana Sousa da Paz, Júnia Raquel Dutra Ferreira, Bruno Antônio Veloso Cerqueira, Marilda de Souza Gonçalves
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In addition, we determined the association of hematological, biochemical and genetic markers including the β<sup>S</sup>-globin gene haplotypes and the 3.7 Kb deletion of α-thalassemia (-α<sup>3.7Kb</sup>-thal), as well as the occurrence of clinical events in both SCD genotypes.</p><p><strong>Results: </strong>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<sup>3.7Kb</sup>-thal prevalence was 0.09 (9%), and it was associated with elevated hemoglobin and hematocrit concentrations. Clinical events were more frequent in SCA patients.</p><p><strong>Conclusions: </strong>Our data emphasize the differences between SCA and HbSC patients based on laboratory parameters and the clinical and genetic profile of both genotypes.</p>","PeriodicalId":37740,"journal":{"name":"BMC Hematology","volume":" ","pages":"15"},"PeriodicalIF":0.0000,"publicationDate":"2017-09-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1186/s12878-017-0087-7","citationCount":"25","resultStr":"{\"title\":\"Comparative study of sickle cell anemia and hemoglobin SC disease: clinical characterization, laboratory biomarkers and genetic profiles.\",\"authors\":\"Milena Magalhães Aleluia, Teresa Cristina Cardoso Fonseca, Regiana Quinto Souza, Fábia Idalina Neves, Caroline Conceição da Guarda, Rayra Pereira Santiago, Bruna Laís Almeida Cunha, Camylla Villas Boas Figueiredo, Sânzio Silva Santana, Silvana Sousa da Paz, Júnia Raquel Dutra Ferreira, Bruno Antônio Veloso Cerqueira, Marilda de Souza Gonçalves\",\"doi\":\"10.1186/s12878-017-0087-7\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Background: </strong>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.</p><p><strong>Methods: </strong>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. 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引用次数: 25
摘要
背景:在本研究中，我们评估了镰状细胞性贫血(SCA)和血红蛋白SC病(HbSC)患者不同临床特征、实验室和遗传生物标志物的相关性，试图表征镰状细胞病(SCD)基因型。方法:2013年至2014年，我们对200名SCD患者进行了横断面研究(141名SCA患者;59例HbSC)，并分析人口统计学数据以确定研究人群的特征。此外，我们确定了包括β s -珠蛋白基因单倍型在内的血液学、生化和遗传标记与α-地中海贫血3.7Kb缺失(-α3.7Kb-thal)的关联，以及两种SCD基因型中临床事件的发生。结果:实验室参数显示与SCA个体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况的关系更大。BEN单倍型是最常见的，与胎儿血红蛋白(HbF)升高和S血红蛋白(HbS)降低有关。-α3.7Kb-thal患病率为0.09(9%)，与血红蛋白和红细胞压积升高有关。SCA患者的临床事件更为频繁。结论:我们的数据强调了SCA和HbSC患者之间基于实验室参数和两种基因型的临床和遗传谱的差异。
Comparative study of sickle cell anemia and hemoglobin SC disease: clinical characterization, laboratory biomarkers and genetic profiles.
Background: 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.
期刊介绍：
BMC Hematology is an open access, peer-reviewed journal that considers articles on basic, experimental and clinical research related to hematology. The journal welcomes submissions on non-malignant and malignant hematological diseases, hemostasis and thrombosis, hematopoiesis, stem cells and transplantation.
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