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BMC Hematology
Published in: BMC Hematology 1/2017

Open Access 01-12-2017 | Research article

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

Published in: BMC Hematology | Issue 1/2017

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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.
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Metadata
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
Publication date
01-12-2017
Publisher
BioMed Central
Published in
BMC Hematology / Issue 1/2017
Electronic ISSN: 2052-1839
DOI
https://doi.org/10.1186/s12878-017-0087-7

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