Candidate sequence variants and fetal hemoglobin in children with sickle cell disease treated with hydroxyurea.

ABSTRACT:

Background

Fetal hemoglobin level is a heritable complex trait that strongly correlates swith the clinical severity of sickle cell disease. Only few genetic loci have been identified as robustly associated with fetal hemoglobin in patients with sickle cell disease, primarily adults. The sole approved pharmacologic therapy for this disease is hydroxyurea, with effects largely attributable to induction of fetal hemoglobin.

Methodology/principal findings

In a multi-site observational analysis of children with sickle cell disease, candidate single nucleotide polymorphisms associated with baseline fetal hemoglobin levels in adult sickle cell disease were examined in children at baseline and induced by hydroxyurea therapy. For baseline levels, single marker analysis demonstrated s

SUBMITTER: Green NS 

PROVIDER: S-EPMC3567082 | biostudies-literature | 2013

REPOSITORIES: biostudies-literature