Article
Variation and impact of polygenic hematologic traits in monogenic sickle cell disease.
Haematologica - 1 Mar 2023
Pincez Thomas, Lo Ken Sin, D'Orengiani Anne-Laure Pham Hung d'Alexandry, Garrett Melanie E, Brugnara Carlo, Ashley-Koch Allison E, Telen Marilyn J, Galacteros Frederic, Joly Philippe, Bartolucci Pablo, Lettre Guillaume
Abstract excerpt
Several of the complications observed in sickle cell disease (SCD) are influenced by variation in hematologic traits (HT), such as fetal hemoglobin (HbF) level and neutrophil count. Previous large-scale genome-wide association studies carried out in largely healthy individuals have identified thousands of variants associated with HT, which have then been used to develop multi-ancestry polygenic trait scores...
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