Article
Identifying genetic variants and pathways associated with extreme levels of fetal hemoglobin in sickle cell disease in Tanzania.
BMC medical genetics - 5 Jun 2020
Nkya Siana, Mwita Liberata, Mgaya Josephine, Kumburu Happiness, van Zwetselaar Marco, Menzel Stephan, Mazandu Gaston Kuzamunu, Sangeda Raphael, Chimusa Emile, Makani Julie
Abstract excerpt
BACKGROUND: Sickle cell disease (SCD) is a blood disorder caused by a point mutation on the beta globin gene resulting in the synthesis of abnormal hemoglobin. Fetal hemoglobin (HbF) reduces disease severity, but the levels vary from one individual to another. Most research has focused on common genetic variants which differ across populations and hence do not fully account for HbF variation. METHODS: We...
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