Article
The genetic dissection of fetal haemoglobin persistence in sickle cell disease in Nigeria.
Human molecular genetics - 4 May 2024
Ojewunmi Oyesola O, Adeyemo Titilope A, Oyetunji Ajoke I, Inyang Bassey, Akinrindoye Afolashade, Mkumbe Baraka S, Gardner Kate, Rooks Helen, Brewin John, Patel Hamel, Lee Sang Hyuck, Chung Raymond, Rashkin Sara, Kang Guolian, Chianumba Reuben, Sangeda Raphael, Mwita Liberata, Isa Hezekiah, Agumadu Uche-Nnebe, Ekong Rosemary, Faruk Jamilu A, Jamoh Bello Y, Adebiyi Niyi M, Umar Ismail A, Hassan Abdulaziz, Grace Christopher, Goel Anuj, Inusa Baba P D, Falchi Mario, Nkya Siana, Makani Julie, Ahmad Hafsat R, Nnodu Obiageli, Strouboulis John, Menzel Stephan
Abstract excerpt
The clinical severity of sickle cell disease (SCD) is strongly influenced by the level of fetal haemoglobin (HbF) persistent in each patient. Three major HbF loci (BCL11A, HBS1L-MYB, and Xmn1-HBG2) have been reported, but a considerable hidden heritability remains. We conducted a genome-wide association study for HbF levels in 1006 Nigerian patients with SCD (HbSS/HbSβ0), followed by a replication and...
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