Genetic modifiers of fetal hemoglobin affect the course of sickle cell disease in patients treated with hydroxyurea

Haematologica. 2022 Jul 1;107(7):1577-1588. doi: 10.3324/haematol.2021.278952.

Abstract

The course of sickle cell disease (SCD) is modified by polymorphisms boosting fetal hemoglobin (HbF) synthesis. However, it has remained an open question how these polymorphisms affect patients who are treated with the HbF-inducing drug hydroxyurea/ hydroxycarbamide. The German SCD registry offers the opportunity to answer this question, because >90% of patients are treated according to national guidelines recommending the use of hydroxyurea in all patients above 2 years of age. We analyzed the modifying effect of HbF-related genetic polymorphisms in 417 patients with homozygous SCD >2 years old who received hydroxyurea. HbF levels were correlated with higher total hemoglobin levels, lower rates of hemolysis, a lower frequency of painful crises and of red blood cell transfusions. The minor alleles of the polymorphisms in the γ-globin promoter (rs7482144), BCL11A (rs1427407) and HMIP (rs66650371) were strongly associated with increased HbF levels. However, these associations did not translate into lower frequencies of vaso-occlusive events which did not differ between patients either carrying or not carrying the HMIP and BCL11A polymorphisms. Patients on hydroxyurea carrying the γ-globin promoter polymorphism demonstrated substantially higher hemoglobin levels (P<10-4) but also higher frequencies of painful crises and hospitalizations (P<0.01) when compared to patients without this polymorphism. Taken together, these data indicate that the γ-globin, HMIP and BCL11A polymorphisms correlate with increased HbF in SCD patients on hydroxyurea. While HbF is negatively correlated with the frequency of painful crises and hospitalizations, this was not observed for the presence of known HbF-boosting alleles.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Anemia, Sickle Cell* / drug therapy
  • Anemia, Sickle Cell* / genetics
  • Child, Preschool
  • Fetal Hemoglobin* / analysis
  • Fetal Hemoglobin* / genetics
  • Humans
  • Hydroxyurea / therapeutic use
  • Metalloendopeptidases* / genetics
  • Pain
  • Polymorphism, Single Nucleotide
  • Repressor Proteins* / genetics
  • gamma-Globins / genetics

Substances

  • BCL11A protein, human
  • Repressor Proteins
  • gamma-Globins
  • Fetal Hemoglobin
  • Metalloendopeptidases
  • mitochondrial intermediate peptidase
  • Hydroxyurea

Grants and funding

Funding: The German SCD registry is supported by the grants DKS 2016.12 and 2020.03 to JBK from the German Childhood Cancer Foundation.