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 74 52 58 29 6 15 71
Hemoglobin E 29 6
Hb-E Disease 12

Characteristics:

Orphanet epidemiological data:

58
hemoglobin e disease
Inheritance: Autosomal recessive; Age of onset: All ages; Age of death: any age;

Classifications:

Orphanet: 58  
Rare haematological diseases


External Ids:

Disease Ontology 12 DOID:5379
NCIt 49 C35287
SNOMED-CT 67 25065001
ICD10 32 D58.2
ICD10 via Orphanet 33 D58.2
UMLS via Orphanet 72 C0238159
Orphanet 58 ORPHA2133
UMLS 71 C0238159

Summaries for Hemoglobin E Disease

NIH Rare Diseases : 52 Hemoglobin E (HbE) disease is a mild, inherited blood 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 glucosephosphate dehydrogenase deficiency and splenic sequestration. 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 Folate Metabolism. The drugs Immunologic Factors and Immunoglobulins have been mentioned in the context of this disorder. Affiliated tissues include bone, testes and spinal cord.

Wikipedia : 74 Hemoglobin E (HbE) is an abnormal hemoglobin with a single point mutation in the ? chain. At position 26... 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 166)
# Related Disease Score Top Affiliating Genes
1 glucosephosphate dehydrogenase deficiency 30.2 HBE1 HBB
2 splenic sequestration 30.1 HBB F2
3 intracranial thrombosis 30.0 F5 F2
4 methemoglobinemia 30.0 LOC107133510 LOC106099062 HBB
5 priapism 29.9 HBB F5
6 placental abruption 29.8 F5 F2
7 mitral valve stenosis 29.8 SERPINA3 F2
8 beta-thalassemia 29.7 HBE1 HBD HBB F2
9 von willebrand's disease 29.6 F5 F2
10 sickle cell disease 29.6 HBD HBB
11 hereditary elliptocytosis 29.3 HBE1 HBB
12 cerebrovascular disease 29.2 SERPINA3 F5 F2
13 fetal hemoglobin quantitative trait locus 1 28.8 LOC107133510 LOC106099062 HBD HBB
14 thalassemia 28.8 LOC106099062 HBQ1 HBE1 HBD HBB F2
15 hemoglobin h disease 28.5 HBQ1 HBE1 HBD HBB
16 hemoglobinopathy 28.0 LOC107133510 LOC106099062 HBQ1 HBE1 HBD HBB
17 alpha-thalassemia 27.7 LOC107133510 LOC106099062 HBQ1 HBE1 HBD HBB
18 hemoglobin se disease 11.7
19 methemoglobinemia, beta-globin type 10.3 LOC107133510 HBB
20 paracetamol poisoning 10.2 F5 F2
21 spinal cord infarction 10.2 F5 F2
22 sudden sensorineural hearing loss 10.2 F5 F2
23 arteritic anterior ischemic optic neuropathy 10.2 F5 F2
24 cryptogenic cirrhosis 10.2 F5 F2
25 splenomegaly 10.2
26 prothrombin deficiency, congenital 10.2 F5 F2
27 cerebral sinovenous thrombosis 10.2 F5 F2
28 sagittal sinus thrombosis 10.2 F5 F2
29 mediastinitis 10.2 F5 F2
30 thrombasthenia 10.2 F5 F2
31 post-thrombotic syndrome 10.2 F5 F2
32 sneddon syndrome 10.2 F5 F2
33 factor x deficiency 10.2 F5 F2
34 peripheral vertigo 10.2 F5 F2
35 porencephaly 10.2 F5 F2
36 factor v deficiency 10.2 F5 F2
37 thrombophilia due to activated protein c resistance 10.2 F5 F2
38 ischemic colitis 10.1 F5 F2
39 dysfibrinogenemia, congenital 10.1 F5 F2
40 factor xiii deficiency 10.1 F5 F2
41 purpura fulminans 10.1 F5 F2
42 antithrombin iii deficiency 10.1 F5 F2
43 factor viii deficiency 10.1 F5 F2
44 thrombophlebitis 10.1 F5 F2
45 retinal vascular occlusion 10.1 F5 F2
46 gastroschisis 10.1 F5 F2
47 central retinal vein occlusion 10.1 F5 F2
48 retinal vein occlusion 10.1 F5 F2
49 factor xi deficiency 10.1 F5 F2
50 inherited blood coagulation disease 10.1 F5 F2

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

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

(show all 36)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Immunologic Factors Phase 2
2 Immunoglobulins Phase 2
3 Immunoglobulin Fc Fragments Phase 2
4 Antibodies Phase 2
5
Acetylcysteine Approved, Investigational 616-91-1 12035
6
Tocopherol Approved, Investigational 1406-66-2, 54-28-4 14986
7
Iron Approved, Experimental 7439-89-6, 15438-31-0 23925 27284
8
Deferiprone Approved 30652-11-0 2972
9
Artesunate Approved, Investigational 88495-63-0 6917864 5464098
10
Mefloquine Approved, Investigational 53230-10-7 4046
11
Vitamin E Approved, Nutraceutical, Vet_approved 59-02-9 14985
12 Tocotrienol Investigational 6829-55-6
13
Piperaquine Experimental, Investigational 4085-31-8 5079497
14 Vitamins
15 Micronutrients
16 Trace Elements
17 Respiratory System Agents
18 Tocopherols
19 Anti-Infective Agents
20 Antioxidants
21 Nutrients
22 Free Radical Scavengers
23 Tocotrienols
24 N-monoacetylcystine
25 Antiviral Agents
26 Chelating Agents
27 Iron Chelating Agents
28 Protective Agents
29 Antidotes
30 Expectorants
31 Artemisinins
32 Antiparasitic Agents
33 Antiprotozoal Agents
34 Antimalarials
35 Artemisinine
36 Anthelmintics

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Multi-National, Blinded, Placebo-Controlled, Dose Escalation Study to Evaluate the Safety, Tolerability, and Pharmacokinetics of HQK-1001 in Subjects With Beta Thalassemia Intermedia, Including Hemoglobin E Beta Thalassemia Completed NCT00790127 Phase 1, Phase 2 HQK-1001;Placebo
2 An Open Label Academic Phase 2 Study of SDMB in Subjects in Thailand With Beta Thalassemia Intermedia Completed NCT01609595 Phase 2 sodium 2,2 dimethylbutyrate
3 A Phase 2A Open-label Multicenter Study to Evaluate the Safety and Pharmacokinetics of Luspatercept in Pediatric Subjects Who Require Regular Red Blood Cell Transfusions Due to B-Thalassemia Not yet recruiting NCT04143724 Phase 2 ACE-536;ACE-536
4 Compassionate Use of Catheter Thrombectomy (Aspirex 11F) in Patients With Massive Pulmonary Embolism Terminated NCT00314002 Phase 1, Phase 2
5 Effect of Antioxidant Cocktail in Beta-thalassemia/Hb E Patients Completed NCT01597765 curcuminoids, N-acetylcysteine, deferiprone and vitamin E;Curcuminoids and alpha-tocopherol
6 Plasmodium Falciparum Clearance Rates in Response to Artesunate in Eastern Cambodia Completed NCT01240603
7 Studies of P. Vivax and P. Falciparum Malaria in Cambodia Completed NCT00663546
8 Multidisciplinary Studies of Severe Malaria and Antimalarial Drug Resistance in Cambodia Completed NCT00341003

Search 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:

40
Bone, Testes, Spinal Cord, Heart, Endothelial, Bone Marrow, Colon

Publications for Hemoglobin E Disease

Articles related to Hemoglobin E Disease:

(show top 50) (show all 567)
# Title Authors PMID Year
1
Extended linkage disequilibrium surrounding the hemoglobin E variant due to malarial selection. 61 6
15114532 2004
2
The global distribution of length polymorphisms of the promoters of the glucuronosyltransferase 1 gene (UGT1A1): hematologic and evolutionary implications. 61 6
12850492 2003
3
Hemoglobin E: a balanced polymorphism protective against high parasitemias and thus severe P falciparum malaria. 61 6
12149194 2002
4
Interaction of hemoglobin E and pyrimidine 5' nucleotidase deficiency. 61 6
8839873 1996
5
Sickle cell-hemoglobin E disease: clinical findings and implications. 61 6
1960615 1991
6
Homozygous hemoglobin E mimics beta-thalassemia minor without anemia or hemolysis: hematologic, functional, and biosynthetic studies of first North American cases. 61 6
7395858 1980
7
Interaction of malaria with a common form of severe thalassemia in an Asian population. 6
19841268 2009
8
Global epidemiology of haemoglobin disorders and derived service indicators. 6
18568278 2008
9
Hyperbilirubinemia in homozygous HbE disease is associated with the UGT1A1 gene polymorphism. 6
16114182 2005
10
Genotypes and phenotypes--another lesson from the hemoglobinopathies. 6
15470211 2004
11
The 'hot-spot' of Hb E [beta26(B8)Glu-->Lys] in Southeast Asia: beta-globin anomalies in the Lao Theung population of southern Laos. 6
15481886 2004
12
Homozygosity for Hb E-Saskatoon [beta22(B4)Glu-->Lys] in a Turkish patient. 6
11791874 2001
13
Genetic determinants of jaundice and gallstones in haemoglobin E beta thalassaemia. 6
11425418 2001
14
Racial variability in the UDP-glucuronosyltransferase 1 (UGT1A1) promoter: a balanced polymorphism for regulation of bilirubin metabolism? 6
9653159 1998
15
The first case of Hb E-Saskatoon [alpha 2 beta(2)22(B4)Glu-->Lys] in a Japanese male in Asia. 6
8718699 1995
16
Compound heterozygosity for Hb E-Saskatoon or alpha 2 beta 2(22)(B4)Glu----Lys and beta-thalassemia type IVS-I-6 (T----C) 6
2283299 1990
17
Direct detection of haemoglobin E with MnlI. 6
3031297 1987
18
Linkage of beta-thalassaemia mutations and beta-globin gene polymorphisms with DNA polymorphisms in human beta-globin gene cluster. 6
6280057 1982
19
Nonrandom association of polymorphic restriction sites in the beta-globin gene cluster. 6
6275383 1982
20
A genetically determined disorder with features both of thalassaemia and congenital dyserythropoietic anaemia. 6
4351905 1973
21
Hemoglobin variant common to Chinese and North American Indians: alpha-2-beta-22 Glu-Ala. 6
5658717 1968
22
Hemoglobin G Saskatoon: beta-22Glu--Ala. 6
6021187 1967
23
Abnormal human haemoglobins. VI. The chemical difference between haemoglobins A and E. 6
13716853 1961
24
Nationwide carrier detection and molecular characterization of β-thalassemia and hemoglobin E variants in Bangladeshi population. 61
31941534 2020
25
[Hematological and genotypic features of 100 patients with hemoglobin E disorders from Yunnan Province]. 61
31922592 2020
26
A novel SNP rs11759328 on Rho GTPase-activating protein 18 gene is associated with the expression of Hb F in hemoglobin E-related disorders. 61
31776727 2020
27
Comparison Between Three Molecular Diagnostics for the Identification of Heterozygous Hemoglobin E. 61
31930879 2020
28
Pharmacokinetics and pharmacodynamics of single dose of inhaled nebulized sodium nitrite in healthy and hemoglobin E/β-thalassemia subjects. 61
31513867 2019
29
Interactions of unstable hemoglobin Rush with thalassemia and hemoglobin E result in thalassemia intermedia. 61
31124399 2019
30
Differentially expressed plasma proteins of β-thalassemia/hemoglobin E patients in response to curcuminoids/vitamin E antioxidant cocktails. 61
30661467 2019
31
Undiagnosed Hemoglobinopathies: A potential threat to the premarital screening program. 61
31777502 2019
32
Determination of Normal HbA1C Levels in Non-Diabetic Patients with Hemoglobin E. 61
31882432 2019
33
Prevalence of left ventricular diastolic dysfunction by cardiac magnetic resonance imaging in thalassemia major patients with normal left ventricular systolic function. 61
31694552 2019
34
[Phenotype Analysis of 78 Cases of Abnormal Hemoglobin E Homozygotes]. 61
31607315 2019
35
Molecular prevalence of thalassemia and hemoglobinopathies among the Lao Loum Group in the Lao People's Democratic Republic. 61
31271507 2019
36
A case of compound heterozygous hemoglobin Köln/hemoglobin E in an Indian family. 61
31424305 2019
37
Validation of Microarray for the Simultaneous Detection of Common α- and β-Thalassemia Gene Mutations. 61
30806653 2019
38
Differentiation of homozygous hemoglobin E and hemoglobin E-β0 -thalassemia in children. 61
30582675 2019
39
The first report of hemoglobin E in combination with the highly unstable alpha-globin variant Hb Adana: The importance of molecular confirmation. 61
30663218 2019
40
Blood transfusion therapy for β-thalassemia major and hemoglobin E β-thalassemia: Adequacy, trends, and determinants in Sri Lanka. 61
30697927 2019
41
A Formula to Identify Potential Cases of β-Thalassemia/HbE Disease Among Patients With Absent HbA, HbE >75% and HbF Between 5 and 15. 61
30239825 2019
42
Hemoglobin A1c Levels Are Slightly but Significantly Lower in Normoglycemic Subjects With the Hemoglobin E Phenotype. 61
30430785 2019
43
Comparative Proteome-Wide Analysis of Bone Marrow Microenvironment of β-Thalassemia/Hemoglobin E. 61
30813444 2019
44
Vascular and hemostatic alterations associated with pulmonary hypertension in β-thalassemia hemoglobin E patients receiving regular transfusion and iron chelation. 61
30584959 2019
45
Molecular Analysis of Non-Transfusion Dependent Thalassemia Associated with Hemoglobin E-β-Thalassemia Disease without α-Thalassemia. 61
31308914 2019
46
The prevalence, alloimmunization risk factors, antigenic exposure, and evaluation of antigen-matched red blood cells for thalassemia transfusions: a 10-year experience at a tertiary care hospital. 61
30443908 2019
47
A nationwide survey of hospital-based thalassemia patients and standards of care and a preliminary assessment of the national prevention program in Sri Lanka. 61
31419232 2019
48
Hemoglobin E, malaria and natural selection. 61
31890210 2019
49
Clinical utility of combined preimplantation genetic testing methods in couples at risk of passing on beta thalassemia/hemoglobin E disease: A retrospective review from a single center. 61
31751397 2019
50
Hemoglobin E protects against acute Plasmodium vivax infections in a Kachin population at the China-Myanmar border. 61
29964138 2018

Variations for Hemoglobin E Disease

ClinVar genetic disease variations for Hemoglobin E Disease:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 HBB NM_000518.5(HBB):c.79G>A (p.Glu27Lys)SNV Pathogenic 15161 rs33950507 11:5248173-5248173 11:5226943-5226943
2 HBB NM_000518.4(HBB):c.67G>A (p.Glu23Lys)SNV Uncertain significance 15162 rs33959855 11:5248185-5248185 11:5226955-5226955

Expression for Hemoglobin E Disease

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

Pathways for Hemoglobin E Disease

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 9.55 SERPINA3 HBE1 HBD HBB F2
2 platelet alpha granule lumen GO:0031093 9.26 SERPINA3 F5
3 hemoglobin complex GO:0005833 9.26 HBQ1 HBE1 HBD HBB
4 haptoglobin-hemoglobin complex GO:0031838 8.92 HBQ1 HBE1 HBD HBB

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 9.56 HBQ1 HBE1 HBD HBB
2 blood coagulation GO:0007596 9.55 HBE1 HBD HBB F5 F2
3 hemostasis GO:0007599 9.37 F5 F2
4 acute-phase response GO:0006953 9.32 SERPINA3 F2
5 hydrogen peroxide catabolic process GO:0042744 9.26 HBQ1 HBE1 HBD HBB
6 oxygen transport GO:0015671 8.92 HBQ1 HBE1 HBD HBB

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 9.71 HBQ1 HBE1 HBD HBB
2 peroxidase activity GO:0004601 9.62 HBQ1 HBE1 HBD HBB
3 oxygen binding GO:0019825 9.56 HBQ1 HBE1 HBD HBB
4 hemoglobin alpha binding GO:0031721 9.54 HBE1 HBD HBB
5 oxygen carrier activity GO:0005344 9.46 HBQ1 HBE1 HBD HBB
6 organic acid binding GO:0043177 9.26 HBQ1 HBE1 HBD HBB
7 haptoglobin binding GO:0031720 8.92 HBQ1 HBE1 HBD HBB

Sources for Hemoglobin E Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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