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. 2017 Sep 15:17:15.
doi: 10.1186/s12878-017-0087-7. eCollection 2017.

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

Milena Magalhães Aleluia  1   2 , Teresa Cristina Cardoso Fonseca  3   4 , Regiana Quinto Souza  3   4 , Fábia Idalina Neves  3 , Caroline Conceição da Guarda  1   2 , Rayra Pereira Santiago  1   2 , Bruna Laís Almeida Cunha  2 , Camylla Villas Boas Figueiredo  1   2 , Sânzio Silva Santana  1   2 , Silvana Sousa da Paz  1 , Júnia Raquel Dutra Ferreira  1   2 , Bruno Antônio Veloso Cerqueira  5 , Marilda de Souza Gonçalves  1   2
Affiliations

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

Milena Magalhães Aleluia et al. BMC Hematol. .

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.

Keywords: Biomarkers; Genetic profile; Hemoglobin SC disease; Sickle cell anemia.

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Conflict of interest statement

Ethics approval and consent to participate

The study received approval from the institutional review board of Instituto Gonçalo Moniz at the Fundação Oswaldo Cruz (IGM-FIOCRUZ – Bahia - Brazil) (CAAE 08452913.9.0000.0040) and the informed consent was obtained from all the adults participants and children with consent of parents or guardians.

Consent for publication

Not applicable.

Competing interests

The authors declare that they have no competing interests.

Publisher’s Note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Figures

Fig. 1
Fig. 1
Distribution of SCD patients on South Coast, Extreme South and Southwest of Bahia
See this image and copyright information in PMC

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