Identifying genetic variants and pathways associated with extreme levels of fetal hemoglobin in sickle cell disease in Tanzania.

Siana NkyaLiberata MwitaJosephine MgayaHappiness KumburuMarco van ZwetselaarStephan MenzelGaston Kuzamunu MazanduRaphael SangedaEmile ChimusaJulie Makani

Published in: BMC medical genetics (2020)

This study provides new insights in selecting essential variants and identifying potential biological pathways associated with extreme HbF levels in SCD interrogating multiple genomic variants associated with HbF in SCD.

Keyphrases

sickle cell disease
copy number
climate change
gene expression
risk assessment