Abstract
BackgroundIn 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.MethodsWe 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.ResultsLaboratory 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.ConclusionsOur data emphasize the differences between SCA and HbSC patients based on laboratory parameters and the clinical and genetic profile of both genotypes.
Highlights
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
The age at first diagnosis of SCD was younger than 6 months of age in the majority of the patients (38.0%; 76/200), and 68 patients in this group were diagnosed through the newborn screening
When we analyzed the number of patients who have any relatives with SCD, we found that 31.5% (63/200) had a sibling with the disease, and 28.5% (57/200) had four or more sibling with SCD (Table 1)
Summary
Subjects We conducted a cross-sectional study from 2013 to 2014 at the Itabuna Reference Center for Sickle Cell Disease in Itabuna, Bahia, Brazil, that develop the follow-up of 536 SCD patients from the south coast, extreme south and southwest regions of Bahia. Considering the cross-sectional nature of the study, the sample size calculation was performed on StatCalc, Epi Info, v.6.04 with a power of 95% and two-sided confidence level of 95%. We identify that a sample-size of 200 individuals with SCD would be a significant representation of the population, taking account a frequency of 1/ 650 children with SCD in Bahia state. ΒS globin gene cluster haplotypes were investigated using polymerase chain reaction (PCR) followed by restriction fragment length polymorphism (RFLP). Distribution of the quantitative variables was analyzed using Shapiro-Wilk test. Statistical analyses were performed using the Statistical Package for the Social Sciences (SPSS) version 20.0 software (IBM, New York, NY, USA), and P values
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