Evidence that microdeletions in the α globin gene protect against the development of sickle cell glomerulopathy in humans
A Guasch, CF ZAYAS, JR Eckman… - Journal of the …, 1999 - journals.lww.com
There is a large variability in the severity of the clinical manifestations of sickle cell anemia
(SSA), including renal involvement. Haplotypes in the β-globin gene cluster associated with
the geographical origin of the sickle mutation, as well as microdeletions in the α-globin
genes, could provide an epigenetic influence on the heterogeneous outcome in SSA. It has
been determined that the cause of progressive renal insufficiency in SSA is a
glomerulopathy, clinically detected by the presence of macroalbuminuria (albumin excretion …
(SSA), including renal involvement. Haplotypes in the β-globin gene cluster associated with
the geographical origin of the sickle mutation, as well as microdeletions in the α-globin
genes, could provide an epigenetic influence on the heterogeneous outcome in SSA. It has
been determined that the cause of progressive renal insufficiency in SSA is a
glomerulopathy, clinically detected by the presence of macroalbuminuria (albumin excretion …