HBB, hemoglobin subunit beta, 3043

N. diseases: 272; N. variants: 188
Disease: Hemoglobin E disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0238159
Disease: Hemoglobin E disease
Hemoglobin E disease 		0.400 CausalMutation disease CLINVAR Clinical, Hematological and Molecular Analysis of Homozygous Hb E (HBB: c.79G > A) in the Indian Population. 26554862 2016
CUI: C0238159
Disease: Hemoglobin E disease
Hemoglobin E disease 		0.400 CausalMutation disease CLINVAR 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. 25370867 2014
CUI: C0238159
Disease: Hemoglobin E disease
Hemoglobin E disease 		0.400 CausalMutation disease CLINVAR A transgenic mouse model expressing exclusively human hemoglobin E: indications of a mild oxidative stress. 22260787 2012
CUI: C0238159
Disease: Hemoglobin E disease
Hemoglobin E disease 		0.400 GermlineCausalMutation disease ORPHANET Hemoglobinopathies: clinical manifestations, diagnosis, and treatment. 21886666 2011
CUI: C0238159
Disease: Hemoglobin E disease
Hemoglobin E disease 		0.400 CausalMutation disease CLINVAR Molecular analysis of globin gene expression in different thalassaemia disorders: individual variation of β(E) pre-mRNA splicing determine disease severity. 21732929 2011