Recent studies have reached opposing conclusions about whether clonal hematopoiesis (CH) is increased or decreased in patients with sickle cell disease (SCD). Given that CH is typically age-related, its presence in children with SCD could offer unique insights into early-life mutagenesis and disease-related stressors. We tested the primary and secondary hypotheses, that children with SCD would have a higher prevalence of CH when compared to age, sex, and race matched children without SCD; and children with hydroxyurea would have a higher CH prevalence than children not treated with hydroxyurea. To address this, we conducted a cross-sectional study in two independent cohorts of children, ages 0-18 years, with SCD (n=1,025 and n=1,293, respectively) and a 2,957-person matched comparison group. Using a highly sensitive, error-corrected sequencing assay capable of detecting CH at a variant allele frequency ≥ 0.5%, we found that children with SCD have a significantly higher prevalence of CH in relation to the comparison group (odds ratio (OR)=4.2, p=7.4x10-13). Additionally, CH was not associated with exposure to hydroxyurea therapy (OR=0.76, p=0.44).
Ulloa et al. (Mon,) studied this question.
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