MCID: HMG003
MIFTS: 43

Hemoglobin E Disease

Categories: Blood diseases, Endocrine diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Hemoglobin E Disease

MalaCards integrated aliases for Hemoglobin E Disease:

Name: Hemoglobin E Disease 12 76 53 59 29 15 73
Hemoglobin E 29 6
Hb-E Disease 12

Characteristics:

Orphanet epidemiological data:

59
hemoglobin e disease
Inheritance: Autosomal recessive; Age of onset: All ages; Age of death: any age;

Classifications:



External Ids:

Disease Ontology 12 DOID:5379
ICD10 33 D58.2
NCIt 50 C35287
SNOMED-CT 68 25065001
Orphanet 59 ORPHA2133
ICD10 via Orphanet 34 D58.2
UMLS via Orphanet 74 C0238159
UMLS 73 C0238159

Summaries for Hemoglobin E Disease

NIH Rare Diseases : 53 Hemoglobin E (HbE) disease is a mild, inheritedblood disorder characterized by an abnormal form of hemoglobin, called hemoglobin E. People with this condition may have very mild anemia, but the condition typically does not cause any symptoms. It is inherited in an autosomal recessive manner and is caused by a mutation in the HBB gene. The mutation that causes hemoglobin E disease primarily occurs in Southeast Asian populations, and rarely in Chinese populations. Most people with HbE disease do not need any treatment. 

MalaCards based summary : Hemoglobin E Disease, also known as hemoglobin e, is related to thalassemia and beta-thalassemia. An important gene associated with Hemoglobin E Disease is HBB (Hemoglobin Subunit Beta), and among its related pathways/superpathways are Response to elevated platelet cytosolic Ca2+ and Factors involved in megakaryocyte development and platelet production. Affiliated tissues include liver, colon and testes.

Wikipedia : 76 Hemoglobin E or haemoglobin E (HbE) is an abnormal hemoglobin with a single point mutation in the β... more...

Related Diseases for Hemoglobin E Disease

Diseases in the Hemoglobin H Disease family:

Hemoglobin C Disease Hemoglobin D Disease
Hemoglobin E Disease Hemoglobin Se Disease

Diseases related to Hemoglobin E Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 112)
# Related Disease Score Top Affiliating Genes
1 thalassemia 30.2 HBB HBD HBE1 HBS1L
2 beta-thalassemia 30.0 HBB HBD HBE1 HBS1L
3 hemoglobinopathy 29.8 HBB HBD HBE1
4 thrombophilia 29.7 F2 F5
5 alpha-thalassemia 29.7 HBB HBE1
6 hemoglobin h disease 29.4 HBB HBD HBE1
7 hemoglobin e-beta-thalassemia syndrome 12.5
8 hemoglobin se disease 11.5
9 malaria 10.3
10 splenic disease 10.1 F2 HBB
11 paracetamol poisoning 10.1 F2 F5
12 spinal cord infarction 10.1 F2 F5
13 sudden sensorineural hearing loss 10.1 F2 F5
14 cerebral sinovenous thrombosis 10.1 F2 F5
15 prothrombin deficiency, congenital 10.1 F2 F5
16 sagittal sinus thrombosis 10.1 F2 F5
17 cryptogenic cirrhosis 10.1 F2 F5
18 ischemic colitis 10.1 F2 F5
19 factor viii deficiency 10.1 F2 F5
20 porencephaly 10.1 F2 F5
21 retinal vascular occlusion 10.1 F2 F5
22 thrombophlebitis 10.1 F2 F5
23 gastroschisis 10.1 F2 F5
24 antithrombin iii deficiency 10.1 F2 F5
25 post-thrombotic syndrome 10.1 F2 F5
26 peripheral vertigo 10.1 F2 F5
27 central retinal vein occlusion 10.1 F2 F5
28 retinal vein occlusion 10.1 F2 F5
29 retinal artery occlusion 10.1 F2 F5
30 portal vein thrombosis 10.1 F2 F5
31 pulmonary artery disease 10.1 F2 F5
32 dysfibrinogenemia 10.1 F2 F5
33 arteritic anterior ischemic optic neuropathy 10.1 F2 F5
34 ischemic optic neuropathy 10.1 F2 F5
35 protein s deficiency 10.1 F2 F5
36 sea-blue histiocyte disease 10.1 HBB HBE1
37 acute liver failure 10.1 F2 F5
38 placental abruption 10.1 F2 F5
39 thrombasthenia 10.1 F2 F5
40 protein c deficiency 10.1 F2 F5
41 vein disease 10.1 F2 F5
42 intracranial hypertension 10.1 F2 F5
43 spherocytosis, type 2 10.1 HBB HBE1
44 blood coagulation disease 10.1 F2 F5
45 thrombophilia due to activated protein c resistance 10.1 F2 F5
46 factor x deficiency 10.1 F2 F5
47 nonarteritic anterior ischemic optic neuropathy 10.1 F2 F5
48 afibrinogenemia 10.1 F2 F5
49 factor v deficiency 10.1 F2 F5
50 von willebrand's disease 10.0 F2 F5

Graphical network of the top 20 diseases related to Hemoglobin E Disease:



Diseases related to Hemoglobin E Disease

Symptoms & Phenotypes for Hemoglobin E Disease

Drugs & Therapeutics for Hemoglobin E Disease

Search Clinical Trials , NIH Clinical Center for Hemoglobin E Disease

Genetic Tests for Hemoglobin E Disease

Genetic tests related to Hemoglobin E Disease:

# Genetic test Affiliating Genes
1 Hemoglobin E 29
2 Hemoglobin E Disease 29

Anatomical Context for Hemoglobin E Disease

MalaCards organs/tissues related to Hemoglobin E Disease:

41
Liver, Colon, Testes, Spinal Cord, Bone, Neutrophil, Small Intestine

Publications for Hemoglobin E Disease

Articles related to Hemoglobin E Disease:

(show top 50) (show all 204)
# Title Authors Year
1
Hemoglobin A1c Levels Are Slightly but Significantly Lower in Normoglycemic Subjects With the Hemoglobin E Phenotype. ( 30430785 )
2019
2
Acute Effects of Blood Transfusion on Insulin Sensitivity and Pancreatic I^-Cell Function in Children with I^-Thalassemia/Hemoglobin E Disease. ( 28739553 )
2018
3
Prevalence of low bone mass among adolescents with nontransfusion-dependent hemoglobin E/β-thalassemia and its relationship with anemia severity. ( 28801997 )
2018
4
One-step genetic correction of hemoglobin E/beta-thalassemia patient-derived iPSCs by the CRISPR/Cas9 system. ( 29482624 )
2018
5
Can Exchange Transfusions Using Red Blood Cells from Donors with Hemoglobin E Trait Prevent or Ameliorate Severe Malaria in Patients with Multi-drug Resistant Plasmodium falciparum? ( 30127587 )
2018
6
EE score: an index for simple differentiation of homozygous hemoglobin E and hemoglobin E-β0-thalassemia. ( 29668441 )
2018
7
Decreased nitrite reductase activity of deoxyhemoglobin correlates with platelet activation in hemoglobin E/ß-thalassemia subjects. ( 30235277 )
2018
8
Interaction between Hb E and Hb Yala (HBB:c.129delT); a novel frameshift beta globin gene mutation, resulting in Hemoglobin E/β0 thalassemia. ( 28768465 )
2018
9
Proficiency testing program for hemoglobin E, A2 and F analysis in Thailand using lyophilized hemoglobin control materials. ( 29176016 )
2018
10
Quantitative proteomics of plasma vesicles identify novel biomarkers for hemoglobin E/β-thalassemic patients. ( 29365317 )
2018
11
Hemoglobin E protects against acute Plasmodium vivax infections in a Kachin population at the China-Myanmar border. ( 29964138 )
2018
12
Hydroxyurea for hemoglobin E/β-thalassemia: a systematic review and meta-analysis. ( 28786080 )
2017
13
Frequency of hemoglobin E/β-thalassemia compound heterozygotes with low hemoglobin F phenotype among cases with a diagnosis of hemoglobin E homozygote, determined by high-performance liquid chromatography, in prenatal control program for β-thalassemia. ( 28803407 )
2017
14
Lyophilized hemoglobin E control material for the dichlorophenol-indophenol (DCIP) test. ( 27718483 )
2017
15
A Family With a Hemoglobin E Variant Including a Thai Immigrant Woman in Korea. ( 27834070 )
2017
16
Endogamous marriage and the prevalence of hemoglobin E in ethnic groups of northern Thailand. ( 28552112 )
2017
17
Pregnancy Outcomes Among Women with Homozygous Hemoglobin E Disease: A Retrospective Cohort Study. ( 27456306 )
2016
18
Q Sepharose micro-column chromatography: A simple screening method for identifying beta thalassemia traits and hemoglobin E carriers. ( 27399165 )
2016
19
Hematopoietic stem cell transplantation for homozygous β-thalassemia and β-thalassemia/hemoglobin E patients from haploidentical donors. ( 26878659 )
2016
20
Hypercoagulable state as demonstrated by thromboelastometry in hemoglobin E/beta-thalassemia patients: Association with clinical severity and splenectomy status. ( 26971311 )
2016
21
Diminished anaerobic and aerobic exercise fitness in the hemoglobin E traits. ( 25369281 )
2016
22
Pregnancy outcomes among women with hemoglobin E trait. ( 25923241 )
2016
23
Hemoglobin E Prevalence among Ethnic Groups Residing in Malaria-Endemic Areas of Northern Thailand and Its Lack of Association with Plasmodium falciparum Invasion In Vitro. ( 26808200 )
2016
24
Gene frequency and haplotype distribution of hemoglobin E among seven minority groups of Yunnan, China. ( 27273162 )
2016
25
Correction: Hemoglobin E Prevalence among Ethnic Groups Residing in Malaria-Endemic Areas of Northern Thailand and Its Lack of Association with Plasmodium falciparum Invasion In Vitro. ( 27631391 )
2016
26
Hemoglobin E disease and glycosylated hemoglobin. ( 26425484 )
2015
27
Treatment of β-Thalassemia/Hemoglobin E with Antioxidant Cocktails Results in Decreased Oxidative Stress, Increased Hemoglobin Concentration, and Improvement of the Hypercoagulable State. ( 26078808 )
2015
28
Effect of Tumor Necrosis Factor-Alpha on Erythropoietin and Erythropoietin Receptor-Induced Erythroid Progenitor Cell Proliferation in β-Thalassemia/Hemoglobin E Patients. ( 26376749 )
2015
29
Red blood cell microparticles in hemoglobin E disorders. ( 25145814 )
2015
30
Diagnostic difficulties in homozygous hemoglobin E disorders. ( 29540018 )
2015
31
Association of hemoglobin E-Saskatoon with hemoglobin S: report of the first case found in Brazil. ( 24081202 )
2014
32
Thalassemia and hemoglobin e in southern thai blood donors. ( 25050123 )
2014
33
Is hemoglobin e gene widely spread in the state of madhya pradesh in central India? Evidence from five typical families. ( 25237473 )
2014
34
Massive hemothorax due to intrathoracic extramedullary hematopoiesis in a patient with beta thalassemia hemoglobin E disease. ( 24319860 )
2013
35
Detection of beta-thalassemia/hemoglobin E disease in samples which initially were diagnosed as homozygous hemoglobin E. ( 23865372 )
2013
36
Comparison of low density lipoprotein cholesterol concentrations by direct measurement and Friedewald formula in diabetic patients with and without hemoglobin E disorders. ( 23691694 )
2013
37
Hemoglobin E disorder: Newborn screening program. ( 24339538 )
2013
38
Hemoglobin e syndromes: emerging diagnostic challenge in north India. ( 24426328 )
2013
39
Thrombotic thrombocytopenic purpura in a patient with hemoglobin E disease-the importance of timely examination of a blood film. ( 22473629 )
2012
40
A novel test tube method of screening for hemoglobin E. ( 21883965 )
2012
41
Phenotypic expression of hemoglobins A₂, E and F in various hemoglobin E related disorders. ( 22014901 )
2012
42
Hemoglobin E syndromes in Pakistani population. ( 22443415 )
2012
43
Measurement of glycated hemoglobin in a patient with homozygous hemoglobin E. ( 22868817 )
2012
44
Association of xmn I polymorphism and hemoglobin e haplotypes on postnatal gamma globin gene expression in homozygous hemoglobin e. ( 23049556 )
2012
45
Hemoglobin E trait--in Rajshahi, Bangladesh. ( 23227632 )
2012
46
Prevalence and effect of hemoglobin E disorders on Hba1c and lipid profile of diabetic patients at Surin Hospital. ( 21425726 )
2011
47
Structural and functional studies indicating altered redox properties of hemoglobin E: implications for production of bioactive nitric oxide. ( 21531715 )
2011
48
Faster heme loss from hemoglobin E than HbS, in acidic pH: effect of aminophospholipids. ( 22116278 )
2011
49
Feasibility of four discriminant functions for identifying hemoglobin E disorders: Experience in 114 Thai pregnant subjects. ( 27263947 )
2011
50
A genome-wide association identified the common genetic variants influence disease severity in beta0-thalassemia/hemoglobin E. ( 20183929 )
2010

Variations for Hemoglobin E Disease

ClinVar genetic disease variations for Hemoglobin E Disease:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 HBB NM_000518.4(HBB): c.79G> A (p.Glu27Lys) single nucleotide variant Pathogenic rs33950507 GRCh37 Chromosome 11, 5248173: 5248173
2 HBB NM_000518.4(HBB): c.79G> A (p.Glu27Lys) single nucleotide variant Pathogenic rs33950507 GRCh38 Chromosome 11, 5226943: 5226943
3 HBB NM_000518.4(HBB): c.67G> A (p.Glu23Lys) single nucleotide variant other rs33959855 GRCh37 Chromosome 11, 5248185: 5248185
4 HBB NM_000518.4(HBB): c.67G> A (p.Glu23Lys) single nucleotide variant other rs33959855 GRCh38 Chromosome 11, 5226955: 5226955

Expression for Hemoglobin E Disease

Search GEO for disease gene expression data for Hemoglobin E Disease.

Pathways for Hemoglobin E Disease

Pathways related to Hemoglobin E Disease according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.1 F2 F5 HBB HBD HBE1
2 11.33 HBB HBD HBE1

GO Terms for Hemoglobin E Disease

Cellular components related to Hemoglobin E Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 blood microparticle GO:0072562 9.46 F2 HBB HBD HBE1
2 hemoglobin complex GO:0005833 9.13 HBB HBD HBE1
3 haptoglobin-hemoglobin complex GO:0031838 8.8 HBB HBD HBE1

Biological processes related to Hemoglobin E Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cellular oxidant detoxification GO:0098869 9.5 HBB HBD HBE1
2 protein heterooligomerization GO:0051291 9.43 HBB HBD HBE1
3 hemostasis GO:0007599 9.37 F2 F5
4 hydrogen peroxide catabolic process GO:0042744 9.33 HBB HBD HBE1
5 oxygen transport GO:0015671 9.13 HBB HBD HBE1
6 blood coagulation GO:0007596 9.02 F2 F5 HBB HBD HBE1

Molecular functions related to Hemoglobin E Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 heme binding GO:0020037 9.58 HBB HBD HBE1
2 oxygen binding GO:0019825 9.54 HBB HBD HBE1
3 peroxidase activity GO:0004601 9.5 HBB HBD HBE1
4 oxygen carrier activity GO:0005344 9.43 HBB HBD HBE1
5 organic acid binding GO:0043177 9.33 HBB HBD HBE1
6 haptoglobin binding GO:0031720 9.13 HBB HBD HBE1
7 hemoglobin alpha binding GO:0031721 8.8 HBB HBD HBE1

Sources for Hemoglobin E Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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