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

Abstract

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.

DOI: 10.1186/s12878-017-0087-7

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Cite this paper

@inproceedings{Aleluia2017ComparativeSO, title={Comparative study of sickle cell anemia and hemoglobin SC disease: clinical characterization, laboratory biomarkers and genetic profiles}, author={Milena Magalh{\~a}es Aleluia and Teresa Cristina Cardoso Fonseca and Regiana Quinto Souza and Fabia Idalina Rodrigues Neves and Caroline Conceiç{\~a}o da Guarda and Rayra Pereira Santiago and Bruna La{\'i}s Almeida Cunha and Camylla Villas Boas Figueiredo and S{\^a}nzio Silva Santana and Silvana Sousa da Paz and J{\'u}nia Raquel Dutra Ferreira and Bruno Ant{\^o}nio Veloso Cerqueira and Marilda Souza Goncalves}, booktitle={BMC hematology}, year={2017} }