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MCID: HMG003
MIFTS: 43

Hemoglobin E Disease

Categories: Blood diseases, Endocrine diseases, Genetic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Drugs
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Aliases & Classifications for Hemoglobin E Disease

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MalaCards integrated aliases for Hemoglobin E Disease:

Name: Hemoglobin E Disease 12 77 54 60 30 15 74
Hemoglobin E 30 6
Hb-E Disease 12

Characteristics:

Orphanet epidemiological data:

60
hemoglobin e disease
Inheritance: Autosomal recessive; Age of onset: All ages; Age of death: any age;

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases
Anatomical: Blood diseases Endocrine diseases
See all MalaCards categories (disease lists)
ICD10: 34 35
Orphanet: 60  
Rare haematological diseases


External Ids:

Disease Ontology 12 DOID:5379
NCIt 51 C35287
SNOMED-CT 69 25065001
ICD10 34 D58.2
ICD10 via Orphanet 35 D58.2
UMLS via Orphanet 75 C0238159
Orphanet 60 ORPHA2133
UMLS 74 C0238159
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Summaries for Hemoglobin E Disease

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NIH Rare Diseases : 54 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 Selenium Micronutrient Network. The drugs Artesunate and Mefloquine have been mentioned in the context of this disorder. Affiliated tissues include testes, liver and bone.

Wikipedia : 77 Hemoglobin E (HbE) is an abnormal hemoglobin with a single point mutation in the β chain. At position 26... more...

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Related Diseases for Hemoglobin E Disease

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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 113)
# Related Disease Score Top Affiliating Genes
1 thalassemia 30.3 HBB HBD HBE1
2 beta-thalassemia 30.2 HBB HBD HBE1
3 thrombophilia 29.8 F2 F5
4 alpha-thalassemia 29.6 HBB HBE1
5 hemoglobinopathy 29.6 HBB HBD HBE1
6 hemoglobin h disease 29.2 HBB HBD HBE1
7 hemoglobin e-beta-thalassemia syndrome 12.5
8 hemoglobin se disease 11.5
9 malaria 10.3
10 splenic disease 10.2 F2 HBB
11 paracetamol poisoning 10.2 F2 F5
12 spinal cord infarction 10.2 F2 F5
13 sudden sensorineural hearing loss 10.2 F2 F5
14 cerebral sinovenous thrombosis 10.2 F2 F5
15 prothrombin deficiency, congenital 10.2 F2 F5
16 sagittal sinus thrombosis 10.2 F2 F5
17 cryptogenic cirrhosis 10.2 F2 F5
18 ischemic colitis 10.2 F2 F5
19 factor viii deficiency 10.2 F2 F5
20 porencephaly 10.2 F2 F5
21 retinal vascular occlusion 10.1 F2 F5
22 thrombophlebitis 10.1 F2 F5
23 antithrombin iii deficiency 10.1 F2 F5
24 post-thrombotic syndrome 10.1 F2 F5
25 peripheral vertigo 10.1 F2 F5
26 central retinal vein occlusion 10.1 F2 F5
27 retinal vein occlusion 10.1 F2 F5
28 retinal artery occlusion 10.1 F2 F5
29 portal vein thrombosis 10.1 F2 F5
30 pulmonary artery disease 10.1 F2 F5
31 dysfibrinogenemia 10.1 F2 F5
32 arteritic anterior ischemic optic neuropathy 10.1 F2 F5
33 ischemic optic neuropathy 10.1 F2 F5
34 protein s deficiency 10.1 F2 F5
35 acute liver failure 10.1 F2 F5
36 placental abruption 10.1 F2 F5
37 sea-blue histiocyte disease 10.1 HBB HBE1
38 thrombasthenia 10.1 F2 F5
39 protein c deficiency 10.1 F2 F5
40 sickle cell anemia 10.1 F2 HBB
41 vein disease 10.1 F2 F5
42 intracranial hypertension 10.1 F2 F5
43 blood coagulation disease 10.1 F2 F5
44 spherocytosis, type 2 10.1 HBB HBE1
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 10.1 F2 F5

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



Diseases related to Hemoglobin E Disease
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Symptoms & Phenotypes for Hemoglobin E Disease

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Drugs & Therapeutics for Hemoglobin E Disease

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Drugs for Hemoglobin E Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 11)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Artesunate Approved, Investigational 88495-63-0 5464098 6917864
2
Mefloquine Approved, Investigational 53230-10-7 4046
3
Piperaquine Experimental, Investigational 4085-31-8 5079497
4 Antiparasitic Agents
5 Antiviral Agents
6 Anti-Infective Agents
7 Antiprotozoal Agents
8 Antimalarials
9 Artemisinins
10 Anthelmintics
11 Artemisinine

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Phase 1/2 Study of HQK-1001 in Patients With Beta Thalassemia Completed NCT00790127 Phase 1, Phase 2 HQK-1001;Placebo
2 Plasmodium Falciparum Clearance Rates in Response to Artesunate in Eastern Cambodia Completed NCT01240603
3 Malaria Studies in Cambodia Completed NCT00663546
4 Severe Malaria and Anti-malarial Drug Resistance in Cambodia Completed NCT00341003

Search NIH Clinical Center for Hemoglobin E Disease

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Genetic Tests for Hemoglobin E Disease

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Genetic tests related to Hemoglobin E Disease:

# Genetic test Affiliating Genes
1 Hemoglobin E 30
2 Hemoglobin E Disease 30
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Anatomical Context for Hemoglobin E Disease

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MalaCards organs/tissues related to Hemoglobin E Disease:

42
Testes, Liver, Bone, Colon, Bone Marrow, Neutrophil, Small Intestine
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Publications for Hemoglobin E Disease

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Articles related to Hemoglobin E Disease:

(show top 50) (show all 206)
# Title Authors Year
1
Differentially expressed plasma proteins of β-thalassemia/hemoglobin E patients in response to curcuminoids/vitamin E antioxidant cocktails. ( 30661467 )
2019
2
Blood transfusion therapy for β-thalassemia major and hemoglobin E β-thalassemia: Adequacy, trends, and determinants in Sri Lanka. ( 30697927 )
2019
3
Comparative Proteome-Wide Analysis of Bone Marrow Microenvironment of β-Thalassemia/Hemoglobin E. ( 30813444 )
2019
4
Hemoglobin A1c Levels Are Slightly but Significantly Lower in Normoglycemic Subjects With the Hemoglobin E Phenotype. ( 30430785 )
2019
5
The first report of hemoglobin E in combination with the highly unstable alpha-globin variant Hb Adana: The importance of molecular confirmation. ( 30663218 )
2019
6
Acute Effects of Blood Transfusion on Insulin Sensitivity and Pancreatic I^-Cell Function in Children with I^-Thalassemia/Hemoglobin E Disease. ( 28739553 )
2018
7
Vascular and hemostatic alterations associated with pulmonary hypertension in β-thalassemia hemoglobin E patients receiving regular transfusion and iron chelation. ( 30584959 )
2018
8
Prevalence of low bone mass among adolescents with nontransfusion-dependent hemoglobin E/β-thalassemia and its relationship with anemia severity. ( 28801997 )
2018
9
One-step genetic correction of hemoglobin E/beta-thalassemia patient-derived iPSCs by the CRISPR/Cas9 system. ( 29482624 )
2018
10
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
11
EE score: an index for simple differentiation of homozygous hemoglobin E and hemoglobin E-β0-thalassemia. ( 29668441 )
2018
12
Decreased nitrite reductase activity of deoxyhemoglobin correlates with platelet activation in hemoglobin E/ß-thalassemia subjects. ( 30235277 )
2018
13
Differentiation of homozygous hemoglobin E and hemoglobin E-β0 -thalassemia in children. ( 30582675 )
2018
14
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
15
Proficiency testing program for hemoglobin E, A2 and F analysis in Thailand using lyophilized hemoglobin control materials. ( 29176016 )
2018
16
Quantitative proteomics of plasma vesicles identify novel biomarkers for hemoglobin E/β-thalassemic patients. ( 29365317 )
2018
17
Hemoglobin E protects against acute Plasmodium vivax infections in a Kachin population at the China-Myanmar border. ( 29964138 )
2018
18
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
19
Hydroxyurea for hemoglobin E/β-thalassemia: a systematic review and meta-analysis. ( 28786080 )
2017
20
Lyophilized hemoglobin E control material for the dichlorophenol-indophenol (DCIP) test. ( 27718483 )
2017
21
A Family With a Hemoglobin E Variant Including a Thai Immigrant Woman in Korea. ( 27834070 )
2017
22
Endogamous marriage and the prevalence of hemoglobin E in ethnic groups of northern Thailand. ( 28552112 )
2017
23
Pregnancy Outcomes Among Women with Homozygous Hemoglobin E Disease: A Retrospective Cohort Study. ( 27456306 )
2016
24
Q Sepharose micro-column chromatography: A simple screening method for identifying beta thalassemia traits and hemoglobin E carriers. ( 27399165 )
2016
25
Hematopoietic stem cell transplantation for homozygous β-thalassemia and β-thalassemia/hemoglobin E patients from haploidentical donors. ( 26878659 )
2016
26
Hypercoagulable state as demonstrated by thromboelastometry in hemoglobin E/beta-thalassemia patients: Association with clinical severity and splenectomy status. ( 26971311 )
2016
27
Diminished anaerobic and aerobic exercise fitness in the hemoglobin E traits. ( 25369281 )
2016
28
Pregnancy outcomes among women with hemoglobin E trait. ( 25923241 )
2016
29
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
30
Gene frequency and haplotype distribution of hemoglobin E among seven minority groups of Yunnan, China. ( 27273162 )
2016
31
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
32
Hemoglobin E disease and glycosylated hemoglobin. ( 26425484 )
2015
33
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
34
Effect of Tumor Necrosis Factor-Alpha on Erythropoietin and Erythropoietin Receptor-Induced Erythroid Progenitor Cell Proliferation in β-Thalassemia/Hemoglobin E Patients. ( 26376749 )
2015
35
Red blood cell microparticles in hemoglobin E disorders. ( 25145814 )
2015
36
Diagnostic difficulties in homozygous hemoglobin E disorders. ( 29540018 )
2015
37
Thalassemia and hemoglobin e in southern thai blood donors. ( 25050123 )
2014
38
Association of hemoglobin E-Saskatoon with hemoglobin S: report of the first case found in Brazil. ( 24081202 )
2014
39
Is hemoglobin e gene widely spread in the state of madhya pradesh in central India? Evidence from five typical families. ( 25237473 )
2014
40
Massive hemothorax due to intrathoracic extramedullary hematopoiesis in a patient with beta thalassemia hemoglobin E disease. ( 24319860 )
2013
41
Detection of beta-thalassemia/hemoglobin E disease in samples which initially were diagnosed as homozygous hemoglobin E. ( 23865372 )
2013
42
Comparison of low density lipoprotein cholesterol concentrations by direct measurement and Friedewald formula in diabetic patients with and without hemoglobin E disorders. ( 23691694 )
2013
43
Hemoglobin E disorder: Newborn screening program. ( 24339538 )
2013
44
Hemoglobin e syndromes: emerging diagnostic challenge in north India. ( 24426328 )
2013
45
Thrombotic thrombocytopenic purpura in a patient with hemoglobin E disease-the importance of timely examination of a blood film. ( 22473629 )
2012
46
A novel test tube method of screening for hemoglobin E. ( 21883965 )
2012
47
Phenotypic expression of hemoglobins A₂, E and F in various hemoglobin E related disorders. ( 22014901 )
2012
48
Hemoglobin E syndromes in Pakistani population. ( 22443415 )
2012
49
Measurement of glycated hemoglobin in a patient with homozygous hemoglobin E. ( 22868817 )
2012
50
Association of xmn I polymorphism and hemoglobin e haplotypes on postnatal gamma globin gene expression in homozygous hemoglobin e. ( 23049556 )
2012
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Variations for Hemoglobin E Disease

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ClinVar genetic disease variations for Hemoglobin E Disease:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 HBB NM_000518.5(HBB): c.79G> A (p.Glu27Lys) single nucleotide variant Pathogenic rs33950507 GRCh37 Chromosome 11, 5248173: 5248173
2 HBB NM_000518.5(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 Uncertain significance rs33959855 GRCh37 Chromosome 11, 5248185: 5248185
4 HBB NM_000518.4(HBB): c.67G> A (p.Glu23Lys) single nucleotide variant Uncertain significance rs33959855 GRCh38 Chromosome 11, 5226955: 5226955
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Expression for Hemoglobin E Disease

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

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

# Super pathways Score Top Affiliating Genes
1
Response to elevated platelet cytosolic Ca2+ 67
Show member pathways
 12.18 F2 F5 HBB HBD HBE1 SERPINA3
2
Selenium Micronutrient Network 1
Show member pathways
 11.67 F2 HBB SERPINA3
3
Factors involved in megakaryocyte development and platelet production 67
11.33 HBB HBD HBE1
Sources

GO Terms for Hemoglobin E Disease

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

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.62 F2 F5 HBB SERPINA3
2 hemoglobin complex GO:0005833 9.33 HBB HBD HBE1
3 platelet alpha granule lumen GO:0031093 9.26 F5 SERPINA3
4 haptoglobin-hemoglobin complex GO:0031838 9.13 HBB HBD HBE1
5 blood microparticle GO:0072562 9.02 F2 HBB HBD HBE1 SERPINA3

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 platelet degranulation GO:0002576 9.43 F5 SERPINA3
3 protein heterooligomerization GO:0051291 9.43 HBB HBD HBE1
4 hemostasis GO:0007599 9.4 F2 F5
5 acute-phase response GO:0006953 9.37 F2 SERPINA3
6 hydrogen peroxide catabolic process GO:0042744 9.33 HBB HBD HBE1
7 oxygen transport GO:0015671 9.13 HBB HBD HBE1
8 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

Sources for Hemoglobin E Disease

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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