Liver damage and sickle cell disease: genotype relationship

Ann Hematol. 2020 Sep;99(9):2065-2072. doi: 10.1007/s00277-020-04113-3. Epub 2020 Jun 22.

Abstract

Sickle hepatopathy is a severe and not rare complication of sickle cell disease (SCD), showing mainly a cholestatic pattern. So far, no effective approaches to prevent or treat this condition have been recognized. We conducted a single-center observational study in 68 adult sickle cell patients, encompassing 17 with sickle cell anemia (SCA), 38 with sickle cell thalassemia (HbS/β-Thal), and 13 with HbSC disease. The aim of our study was to assess liver damage in the three main forms of SCD, through the evaluation of clinical, laboratory, and imaging findings. In our population, the role of hepatotropic viruses, high BMI, and alcohol consumption in liver damage was ruled out. SCA and HbS/β-Thal patients with lower Hb (p < 0.001), higher HbS (p < 0.001), and frequent vaso-occlusive crises showed functional (GGT values: SCA and HbS/β-Thal vs HbSC p = 0.047 and p = 0.009, respectively) and structural liver abnormalities, defined by abdominal ultrasound and vibration-controlled transient elastography (liver stiffness values: SCA and HbS/β-Thal vs HbSC p 0.022 and p 0.19, respectively), more severe than HbSC patients. Through univariate and multivariate analyses, male sex, SCA genotype, lower HbF, frequent transfusions, increased GGT values, and abnormal liver ultrasound and stiffness were identified as potentially early markers of sickle hepatopathy.

Keywords: Genotype correlation; Liver disease; Sickle cell disease; Sickle hepatopathy.

Publication types

  • Observational Study

MeSH terms

  • Adult
  • Anemia, Sickle Cell / blood*
  • Anemia, Sickle Cell / diagnostic imaging*
  • Anemia, Sickle Cell / genetics
  • Female
  • Genotype*
  • Humans
  • Liver Diseases / blood*
  • Liver Diseases / diagnostic imaging*
  • Liver Diseases / genetics
  • Male
  • Middle Aged
  • Risk Factors