present in Gene: HBB
present in Chromosome: 11
Position on Chromosome: 5226943
Alleles of this Variant: C/A;G;T
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.
rs33950507 in
HBB gene and
Hemoglobinopathies
PMID 21389146 2011 Mechanism of escape from nonsense-mediated mRNA decay of human beta-globin transcripts with nonsense mutations in the first exon.
PMID 21119755 2009 Profiling β-thalassaemia mutations in India at state and regional levels: implications for genetic education, screening and counselling programmes.
PMID 16987801 2006 The prevalence and molecular basis of hemoglobinopathies in Cambodia.
PMID 19254853 2009 Regional heterogeneity of beta-thalassemia mutations in the multi ethnic Indian population.
PMID 1974422 1990 Molecular basis of HbE-beta-thalassemia and the origin of HbE in northeast Thailand: identification of one novel mutation using amplified DNA from buffy coat specimens.
PMID 12709369 2003 Rapid detection of beta-globin gene mutations and polymorphisms by temporal temperature gradient gel electrophoresis.
PMID 18294253 2008 Analysis of beta globin mutations in the Indian population: presence of rare and novel mutations and region-wise heterogeneity.
rs33950507 in
HBB gene and
beta Thalassemia
PMID 22675570 2012 Unspliced precursors of NMD-sensitive β-globin transcripts exhibit decreased steady-state levels in erythroid cells.
PMID 12144064 2002 Double heterozygosity for Hb Pyrgos [beta83(EF7)Gly-->Asp] and Hb E [beta26(B8)Glu-->Lys] found in association with alpha-thalassemia.
PMID 15481886 2004 The 'hot-spot' of Hb E [beta26(B8)Glu-->Lys] in Southeast Asia: beta-globin anomalies in the Lao Theung population of southern Laos.
PMID 6166632 1981 Molecular analysis of the beta-thalassemia phenotype associated with inheritance of hemoglobin E (alpha 2 beta2(26)Glu leads to Lys).
PMID 28671035 2017 Molecular Characterization of β-Thalassemia Mutations in Central Vietnam.
PMID 21389146 2011 Mechanism of escape from nonsense-mediated mRNA decay of human beta-globin transcripts with nonsense mutations in the first exon.
PMID 17278112 2007 Hemoglobin SE disease: a concise review.
PMID 7395858 1980 Homozygous hemoglobin E mimics beta-thalassemia minor without anemia or hemolysis: hematologic, functional, and biosynthetic studies of first North American cases.
PMID 22028795 2011 In silico analysis of single nucleotide polymorphism (SNPs) in human β-globin gene.
PMID 24368026 2014 Hemoglobin Constant Spring is markedly high in women of an ethnic minority group in Vietnam: a community-based survey and hematologic features.
PMID 8735302 1996 ACOG technical bulletin. Hemoglobinopathies in pregnancy. Number 220--February 1996 (replaces no. 185, October 1993). Committee on Technical Bulletins of the American College of Obstetricians and Gynecologists.
PMID 7693620 1993 Hb Hradec Kralove (Hb HK) or alpha 2 beta 2 115(G17)Ala-->Asp, a severely unstable hemoglobin variant resulting in a dominant beta-thalassemia trait in a Czech family.
PMID 1974422 1990 Molecular basis of HbE-beta-thalassemia and the origin of HbE in northeast Thailand: identification of one novel mutation using amplified DNA from buffy coat specimens.
PMID 2399911 1990 Hemoglobin Dhonburi alpha 2 beta 2 126 (H4) Val----Gly: a new unstable beta variant producing a beta-thalassemia intermedia phenotype in association with beta zero-thalassemia.
PMID 12149194 2002 Hemoglobin E: a balanced polymorphism protective against high parasitemias and thus severe P falciparum malaria.
PMID 7177196 1982 Abnormal RNA processing due to the exon mutation of beta E-globin gene.