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GoPubMed Proteins lists recent and important papers and reviews for proteins. Page last changed on 19 Aug 2016.

Hemoglobin, epsilon 1

HbE, HBE1
The epsilon globin gene (HBE) is normally expressed in the embryonic yolk sac: two epsilon chains together with two zeta chains (an alpha-like globin) constitute the embryonic hemoglobin Hb Gower I; two epsilon chains together with two alpha chains form the embryonic Hb Gower II. Both of these embryonic hemoglobins are normally supplanted by fetal, and later, adult hemoglobin. The five beta-like globin genes are found within a 45 kb cluster on chromosome 11 in the following order: 5'-epsilon - G-gamma - A-gamma - delta - beta-3' [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: Beta-globin, HAD, CAN, OUT, ACID
Papers on HbE
Frataxin expression in reticulocytes of non-splenectomized and splenectomized patients with HbE-β-thalassaemia.
New
Tripatara et al., Thailand. In Clin Biochem, Dec 2015
The aims of this study were to investigate the FXN mRNA levels in the reticulocytes of patients with HbE-beta-thalassaemia who were treated with regular transfusions, to compare the results with those from normal controls and to evaluate the relationships of the levels of FXN mRNA with malondialdehyde (MDA) and iron parameters in these patients.
Correlation of BACH1 and HbE/Beta-Thalassemia Globin Expression.
New
Lai et al., Kuala Selangor, Malaysia. In Turk J Haematol, Sep 2015
OBJECTIVE: The diverse clinical phenotype of HbE/β-thalassemia has not only confounded clinicians in matters of patient management but has also led scientists to investigate the complex mechanisms involved in maintaining the delicate red cell environment where, even with apparent similarities of α- and β-globin genotypes, the phenotype tells a different story.
HbF in HbE/β-thalassemia: A clinical and laboratory correlation.
New
Lai et al., In Hematology, Jul 2015
However, higher HbF levels could be associated with HbE/β-thalassemia, a complex thalassemia intermedia with a diverse clinical severity ranging from mild-to-severe anemia.
Haemoglobinopathies in tribal populations of India.
New
Mukherjee et al., Mumbai, India. In Indian J Med Res, May 2015
Haemoglobinopathies particularly haemoglobin S and E (HbS, HbE) and β-thalassaemia are important challenges for tribal populations in India.
Haemoglobinopathies in eastern Indian states: a demographic evaluation.
Raman et al., Benares, India. In J Community Genet, 2015
The present study, conducted on 1,642 individuals from this region, shows a frequency of 3.4 % for β-thalassaemia trait (BTT), 3.4 % for sickle cell haemoglobin trait (HbS)/haemoglobin E trait (HbE) and 18 % for α-globin defects.
The over-expression of aquaporin-1 alters erythroid gene expression in human erythroleukemia K562 cells.
Ma et al., Guangzhou, China. In Tumour Biol, 2015
Significant enrichment of genes involved in "oxygen transporter activity" (p = 3.8E-7) including hemoglobins (HBD, HBG, HBB, HBE1, and HBQ1), HEMGN, and EBP42 were validated by qRT-PCR.
IMPAIRED ENDOTHELIAL FUNCTION IN PEDIATRIC HEMOGLOBIN E/β-THALASSEMIA PATIENTS WITH IRON OVERLOAD.
Somparn et al., In Southeast Asian J Trop Med Public Health, 2014
Hemoglobin E/β-thalassemia (HbE/β-thalassemia) is the most important type of thalassemia in northeastern Thailand.
A transgenic mouse model expressing exclusively human hemoglobin E: indications of a mild oxidative stress.
GeneRIF
Hirsch et al., United States. In Blood Cells Mol Dis, 2012
the observed in vivo RBC mild oxidative stress arises, at least in part, from the molecular consequences of the HbE mutation.
Hb A2/E levels found in co-inheritance with the α-thalassemia-1 - -(SEA)/type deletion and either Hb E or β-thalassemia.
GeneRIF
Kongthai et al., Chiang Mai, Thailand. In Hemoglobin, 2011
Studies suggest that the Hb A(2)/E level at 21.54% is the best indicator for predicting co-inheritance of the alpha-thal-1 - -(SEA)/ deletion and Hb E trait.
Differential expression of red cell proteins in hemoglobinopathy.
Review
Halder et al., Calcutta, India. In Proteomics Clin Appl, 2011
We have also touched upon the importance of the association of the varying levels of hemoglobin variants, particularly HbE on the clinical manifestation of composite diseases like HbEβ thalassemia.
Adaptation to anemia in hemoglobin E-ß thalassemia.
GeneRIF
Weatherall et al., Oxford, United Kingdom. In Blood, 2011
patients with hemoglobin Ebeta thalassemia have a significant decrease in the oxygen affinity of their hemoglobin, that is an increased P(50) value, in response to anemia.
Interaction of hemoglobin E with other abnormal hemoglobins.
GeneRIF
Srivastava et al., Vellore, India. In Acta Haematol, 2010
investigation of interaction of HbE w/ other abnormal hemoglobins found in India isolated by cation exchange chromatography; interactions complicate Hb isolation and thus diagnosis of hemoglobinopathies/beta-thalassemias in heterozygous patients
Mechanisms of genetically-based resistance to malaria.
Review
Patarroyo et al., Bogotá, Colombia. In Gene, 2010
Some of the mechanisms underlying protection against this disease are described in this review for hemoglobin-inherited disorders (thalassemia, sickle-cell trait, HbC and HbE), erythrocyte polymorphisms (ovalocytosis and Duffy blood group), enzymopathies (G6PD deficiency and PK deficiency) and immunogenetic variants (HLA alleles, complement receptor 1, NOS2, tumor necrosis factor-α promoter and chromosome 5q31-q33 polymorphisms).
Analysis of Gγ-158(C→T) polymorphism in hemoglobin E/β-thalassemia major in Southern China.
GeneRIF
Lai et al., In J Hematol Oncol, 2009
The frequency of the Ggamma-158(C-->T) polymorphism was relatively high in Southern Chinese patients with HbE/beta-thalassemia major.
Hematopoietic stem cell gene transfer for the treatment of hemoglobin disorders.
Review
Persons, Memphis, United States. In Hematology Am Soc Hematol Educ Program, 2008
A clinical gene transfer trial for beta-thalassemia has begun in France, and one patient with transfusion-dependent HbE/beta-thalassemia has demonstrated a therapeutic effect after transplantation with autologous CD34(+) cells genetically modified with a beta-globin lentiviral vector.
Genetic modifiers in hemoglobinopathies.
Review
Fucharoen et al., Jerusalem, Israel. In Curr Mol Med, 2008
In thalassemia (or in HbE/thalassemia), genetic variation is primarily caused by the severity of the thalassemia mutation.
Molecular diagnosis of inherited disorders: lessons from hemoglobinopathies.
Review
Papadakis et al., Rotterdam, Netherlands. In Hum Mutat, 2005
Over 1,200 different genetic alterations that affect the DNA sequence of the human alpha-like (HBZ, HBA2, HBA1, and HBQ1) and beta-like (HBE1, HBG2, HBG1, HBD, and HBB) globin genes are mainly responsible for the observed clinical heterogeneity.
Thalassaemia in Sri Lanka: implications for the future health burden of Asian populations. Sri Lanka Thalassaemia Study Group.
Impact
Weatherall et al., Kurunegala, Sri Lanka. In Lancet, 2000
Capillary blood was obtained from schoolchildren from different parts of the island and analysed by HPLC to provide an approximate assessment of the carrier frequency of beta thalassaemia and haemoglobin E (HbE).
Molecular screening for haemoglobin constant spring.
Impact
Ching et al., Honolulu, United States. In Lancet, 1989
10 of 103 unrelated Laotians with HbE were alpha cs alpha heterozygotes.
Defective synthesis of HbE is due to reduced levels of beta E mRNA.
Impact
Weatherall et al., In Nature, 1981
Homozygotes for HbE may be midly anaemic, but they do not have any clinical disability.
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