Condition: Hemoglobin E disease
rs766432 in
BCL11A gene and
Hemoglobin E disease
PMID 20183929 2010 A genome-wide association identified the common genetic variants influence disease severity in beta0-thalassemia/hemoglobin E.
rs33950507 in
HBB gene and
Hemoglobin E disease
PMID 21732929 2011 Molecular analysis of globin gene expression in different thalassaemia disorders: individual variation of β(E) pre-mRNA splicing determine disease severity.
PMID 26554862 2016 Clinical, Hematological and Molecular Analysis of Homozygous Hb E (HBB: c.79G > A) in the Indian Population.
PMID 25370867 2014 Molecular characterization of a β-thalassemia intermedia patient presenting inferior vena cava thrombosis: interaction of the β-globin erythroid Krüppel-like factor binding site mutation with Hb E and α(+)-thalassemia.
PMID 22260787 2012 A transgenic mouse model expressing exclusively human hemoglobin E: indications of a mild oxidative stress.
rs2071348 in
HBD;HBBP1 gene and
Hemoglobin E disease
PMID 20183929 2010 A genome-wide association identified the common genetic variants influence disease severity in beta0-thalassemia/hemoglobin E.
rs9376092 in
LOC105378010 gene and
Hemoglobin E disease
PMID 20183929 2010 A genome-wide association identified the common genetic variants influence disease severity in beta0-thalassemia/hemoglobin E.