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

PLoS One. 2020 Jan 29;15(1):e0228399. doi: 10.1371/journal.pone.0228399. eCollection 2020.

Abstract

Sickle cell disease (SCD) consists of a group of hemoglobinopathies in which individuals present highly variable clinical manifestations. Sickle cell anemia (SCA) is the most severe form, while SC hemoglobinopathy (HbSC) is thought to be milder. Thus, we investigated the clinical manifestations and laboratory parameters by comparing each SCD genotype. We designed a cross-sectional study including 126 SCA individuals and 55 HbSC individuals in steady-state. Hematological, biochemical and inflammatory characterization was performed as well as investigation of previous history of clinical events. SCA patients exhibited most prominent anemia, hemolysis, leukocytosis and inflammation, whereas HbSC patients had increased lipid determinations. The main cause of hospitalization was pain crises on both genotypes. Vaso-occlusive events and pain crises were associated with hematological, inflammatory and anemia biomarkers on both groups. Cluster analysis reveals hematological, inflammatory, hemolytic, endothelial dysfunction and anemia biomarkers in HbSC disease as well as SCA. The results found herein corroborate with previous studies suggesting that SCA and HbSC, although may be similar from the genetic point of view, exhibit different clinical manifestations and laboratory alterations which are useful to monitor the clinical course of each genotype.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Anemia, Sickle Cell / drug therapy
  • Anemia, Sickle Cell / genetics
  • Anemia, Sickle Cell / metabolism*
  • Biomarkers / analysis*
  • Child
  • Cross-Sectional Studies
  • Female
  • Folic Acid / therapeutic use
  • Genotype
  • Hemoglobin SC Disease / drug therapy
  • Hemoglobin SC Disease / genetics
  • Hemoglobin SC Disease / metabolism
  • Hemoglobin, Sickle / genetics*
  • Humans
  • Hydroxyurea / therapeutic use
  • Male

Substances

  • Biomarkers
  • Hemoglobin, Sickle
  • Folic Acid
  • Hydroxyurea

Grant support

The work from MSG was supported by the Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq 470959/2014-2 and 405595/2016-6). SCMAY, RPS, and SPC received scholarship from Coordenação de Aperfeiçoamento de Pessoal de Nível Superior, Brasil (CAPES), Finance Code 001. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.