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Sickle cell disease: A distinction of two most frequent genotypes (HbSS and HbSC)

Caroline Conceição da Guarda1, Sètondji Cocou Modeste Alexandre Yahouédéhou1, Rayra Pereira Santiago1

  • 1Laboratório de Investigação em Genética e Hematologia Translacional, Instituto Gonçalo Moniz, FIOCRUZ-BA, Salvador, Bahia, Brasil.

Plos One
|January 30, 2020
PubMed

Insights

Sickle cell anemia (SCA) and SC hemoglobinopathy (HbSC) show distinct clinical and lab differences. SCA patients have more severe anemia and inflammation, while HbSC patients show higher lipid levels, impacting disease monitoring.

Area of Science:

  • Hematology
  • Genetics
  • Clinical Medicine

Background:

  • Sickle cell disease (SCD) encompasses various hemoglobinopathies with diverse clinical outcomes.
  • Sickle cell anemia (SCA) is generally more severe than SC hemoglobinopathy (HbSC).
  • Understanding genotype-specific differences is crucial for effective SCD management.

Purpose of the Study:

  • To compare clinical manifestations and laboratory parameters between SCA and HbSC genotypes.
  • To identify distinct biomarkers for monitoring disease progression in different SCD types.
  • To investigate the association of clinical events with specific biomarkers.

Main Methods:

  • Cross-sectional study design.
  • Inclusion of 126 SCA and 55 HbSC individuals in steady-state.
  • Comprehensive hematological, biochemical, and inflammatory assessments, including clinical event history and cluster analysis.

Main Results:

  • SCA patients presented with more pronounced anemia, hemolysis, leukocytosis, and inflammation compared to HbSC patients.
  • HbSC patients exhibited elevated lipid levels.
  • Pain crises were the primary reason for hospitalization in both groups, linked to various biomarkers.

Conclusions:

  • SCA and HbSC, despite genetic similarities, display unique clinical and laboratory profiles.
  • Biomarker profiles differ between SCA and HbSC, aiding in genotype-specific monitoring.
  • These findings support tailored clinical management strategies for different SCD genotypes.

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