MCID: HMG003
MIFTS: 43

Hemoglobin E Disease

Categories: Rare diseases, Genetic diseases, Blood diseases

Aliases & Classifications for Hemoglobin E Disease

MalaCards integrated aliases for Hemoglobin E Disease:

Name: Hemoglobin E Disease 12 50 56 29 14 69
Hemoglobin E 24 29
Hb-E Disease 12

Characteristics:

Orphanet epidemiological data:

56
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 47 C35287
SNOMED-CT 64 25065001
Orphanet 56 ORPHA2133
UMLS via Orphanet 70 C0238159
ICD10 via Orphanet 34 D58.2
UMLS 69 C0238159

Summaries for Hemoglobin E Disease

NIH Rare Diseases : 50 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.  last updated: 3/22/2017

MalaCards based summary : Hemoglobin E Disease, also known as hemoglobin e, is related to hemoglobin e-beta-thalassemia syndrome and hemoglobin se disease. 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. The drugs Zinc and Darbepoetin alfa have been mentioned in the context of this disorder. Affiliated tissues include kidney, liver and heart.

Related Diseases for Hemoglobin E Disease

Diseases in the Hemoglobin Sd family:

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

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

(show top 50) (show all 91)
id Related Disease Score Top Affiliating Genes
1 hemoglobin e-beta-thalassemia syndrome 11.9
2 hemoglobin se disease 11.2
3 landau-kleffner syndrome 10.5 F2 HBB
4 chronic inflammatory demyelinating polyneuritis 10.5 F2 HBB
5 variably protease-sensitive prionopathy 10.4 F2 F5
6 syncope 10.4 F2 F5
7 lockwood feingold syndrome 10.4 F2 F5
8 superior limbic keratoconjunctivitis 10.4 F2 F5
9 46,xy ovotesticular disorder of sex development 10.4 F2 F5
10 follicular adenoma 10.4 F2 F5
11 testicular gonadoblastoma 10.4 F2 F5
12 collagenous colitis 10.4 F2 F5
13 hiv-1 10.4 F2 F5
14 glutathioninuria 10.3 F2 F5
15 primary pigmented nodular adrenocortical disease 10.3 F2 F5
16 rheumatoid lung disease 10.3 F2 F5
17 facioscapulohumeral muscular dystrophy 1 10.3 F2 F5
18 cryptosporidiosis 10.3 F2 F5
19 factor v deficiency 10.3 F2 F5
20 intestinal pseudo-obstruction 10.3 F2 F5
21 congenital syphilis 10.3 F2 F5
22 thalassemia 10.3
23 homologous wasting disease 10.3 F2 F5
24 neuroaxonal dystrophy 10.3 F2 F5
25 angular blepharoconjunctivitis 10.3 F2 F5
26 inherited blood coagulation disease 10.3 F2 F5
27 irak4 deficiency 10.3 F2 F5
28 dysgammaglobulinemia 10.3 F2 F5
29 hepatocellular adenoma 10.3 F2 F5
30 dyskeratosis congenita autosomal recessive 10.3 F2 F5
31 ulcerative stomatitis 10.3 F2 F5
32 blepharoconjunctivitis 10.3 F2 F5
33 acute lymphocytic leukemia 10.3 F2 F5
34 aryepiglottic fold cancer 10.3 F2 F5
35 moderately severe hemophilia b 10.3 F2 F5
36 thrombomodulin anomalies, familial 10.3 F2 F5
37 glomerulosclerosis, focal segmental, 2 10.3 F2 F5
38 molybdenum cofactor deficiency c 10.3 HBB HBE1
39 joint disorders 10.3 F2 F5
40 leukorrhea 10.3 F2 F5
41 cervix squamous papilloma 10.3 F2 F5
42 spinocerebellar ataxia 27 10.3 F2 F5
43 sacrococcygeal teratoma 10.3 F2 F5
44 ocular hyperemia 10.2 F2 F5
45 thrombophilia due to activated protein c resistance 10.2 F2 F5
46 otopalatodigital syndrome, type i 10.2 F2 F5
47 agenesis of the dorsal pancreas 10.2 F2 F5
48 atrophic nonflaccid tympanic membrane 10.2 F2 F5
49 budd-chiari syndrome 10.2 F2 F5
50 lacrimal system cancer 10.2 F2 HBB

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 top 50) (show all 403)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Zinc Approved Phase 4,Phase 3,Phase 2,Phase 1 7440-66-6 32051 23994
2
Darbepoetin alfa Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 11096-26-7, 209810-58-2
3
Iron Approved Phase 4,Phase 3,Phase 2,Phase 1 7439-89-6 23925
4
Copper Approved Phase 4 7440-50-8 27099
5
Insulin Glargine Approved Phase 4,Phase 3,Phase 2 160337-95-1
6
Insulin Lispro Approved Phase 4 133107-64-9
7
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
8
Norepinephrine Approved Phase 4 51-41-2 439260
9
Metformin Approved Phase 4,Phase 3,Phase 2 657-24-9 14219 4091
10
Pioglitazone Approved, Investigational Phase 4,Phase 3,Phase 2 111025-46-8 4829
11
Hydroxocobalamin Approved Phase 4 13422-51-0 11953898 5460373 44475014
12
Selenium Approved, Vet_approved Phase 4 7782-49-2
13
Epoprostenol Approved Phase 4 61849-14-7, 35121-78-9 5280427 5282411
14
Artemether Approved Phase 4 71963-77-4 119380 68911
15
Lumefantrine Approved Phase 4 82186-77-4 6437380
16
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 1,Phase 2 22916-47-8 4189
17
Liraglutide Approved Phase 4 204656-20-2 44147092
18
Azithromycin Approved Phase 4 83905-01-5 55185 53477736 447043
19
Hydroxyurea Approved Phase 4,Phase 2,Phase 1,Early Phase 1 127-07-1 3657
20
Exenatide Approved, Investigational Phase 4,Phase 3 141758-74-9 15991534
21
Benzocaine Approved Phase 4,Phase 3,Phase 2 1994-09-7, 94-09-7 2337
22
Rosiglitazone Approved, Investigational Phase 4,Phase 3 122320-73-4 77999
23
Insulin Aspart Approved Phase 4,Phase 3,Phase 2 116094-23-6 16132418
24
Fluorouracil Approved Phase 4 51-21-8 3385
25
Triamcinolone Approved, Vet_approved Phase 4 124-94-7 31307
26
Ramipril Approved Phase 4 87333-19-5 5362129
27
Ribavirin Approved Phase 4 36791-04-5 37542
28
Desogestrel Approved Phase 4 54024-22-5 40973
29
Etonogestrel Approved, Investigational Phase 4 54048-10-1 40976 6917715
30
Gliclazide Approved Phase 4 21187-98-4 3475
31
Tetracycline Approved, Vet_approved Phase 4 60-54-8 5353990
32
Acarbose Approved, Investigational Phase 4 56180-94-0 441184
33
Insulin-glulisine Approved Phase 4 207748-29-6
34
Cholecalciferol Approved, Nutraceutical Phase 4 67-97-0 6221 10883523 5280795
35
Ergocalciferol Approved, Nutraceutical Phase 4 50-14-6 5280793
36
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4,Phase 3 1406-16-2
37
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 3 59-30-3 6037
38
leucovorin Approved, Nutraceutical Phase 4,Phase 3 58-05-9 143 6006
39
Pyridoxal Approved, Nutraceutical Phase 4 66-72-8 1050
40
Pyridoxine Approved, Nutraceutical, Vet_approved Phase 4 65-23-6 1054
41
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4,Phase 3 11103-57-4, 68-26-8 445354
42
Vitamin C Approved, Nutraceutical Phase 4,Phase 2,Phase 3 50-81-7 5785 54670067
43
Cyanocobalamin Approved, Nutraceutical Phase 4 68-19-9 44176380
44
Niacin Approved, Investigational, Nutraceutical Phase 4,Phase 2,Phase 3 59-67-6 938
45
Nicotinamide Approved, Nutraceutical Phase 4,Phase 2,Phase 3 98-92-0 936
46
Riboflavin Approved, Nutraceutical, Vet_approved Phase 4 83-88-5 493570
47
Thiamine Approved, Nutraceutical, Vet_approved Phase 4 59-43-8 1130
48 Tocopherol Approved, Nutraceutical Phase 4,Phase 2,Phase 3,Phase 1
49
Vitamin E Approved, Nutraceutical, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1 59-02-9 14985
50 tannic acid Approved, Nutraceutical Phase 4,Phase 3,Phase 2

Interventional clinical trials:

(show top 50) (show all 334)

id Name Status NCT ID Phase Drugs
1 Effect of Vitamin D on Metabolic Parameters in Patients With the Metabolic Syndrome Unknown status NCT01237769 Phase 4 Vitamin D3
2 Glargine Versus NPH in Patients With Chronic Kidney Disease Completed NCT02451917 Phase 4 Glargine;NPH insulin
3 A Safety and Efficacy Study of Two Dose Levels of Taliglucerase Alfa in Pediatric Subjects With Gaucher Disease Completed NCT01132690 Phase 4 Taliglucerase alfa
4 Duloxetine in Patients With Diabetic in Peripheral Neuropathic Pain With or Without Co-morbid Major Depressive Disorder Completed NCT00844194 Phase 4 Duloxetine 60 mg QD;Duloxetine 60 mg QD;Duloxetine 30 mg QD;Duloxetine 30 mg QD;Duloxetine 90 mg QD;Duloxetine 90 mg QD;Duloxetine 60 mg QD;Duloxetine 60 mg QD;Duloxetine 120 mg QD;Duloxetine 30 mg QD;Duloxetine 30 mg QD;Duloxetine 120 mg QD
5 Intravenous Treatment of Anemia in Pregnancy Completed NCT03317210 Phase 4 iron sucrose (200 mg VENOFER®);recombinant human erythropoietin (10,000 U EPREX®)
6 Comparison Among Erythropoietin Stimulating Agents Completed NCT02049346 Phase 4 Epoetin alpha or beta (Epoetin group);Darbepoetin alfa;Methoxy polyethylene glycol-epoetin beta
7 A Study of Subcutaneous Mircera for the Maintenance Treatment of Participants With Chronic Renal Anemia Completed NCT00642668 Phase 4 methoxy polyethylene glycol-epoetin beta
8 Switch From Oral Iron to Intravenous Ferric Carboxymaltose in Non-dialysis Chronic Kidney Disease (CKD) Completed NCT02232906 Phase 4 intravenous ferric carboxymaltose
9 Observational Study to Assess Glycosylated Hemoglobin Changes After 6 Months of Treatment With Pioglitazone. Completed NCT00449553 Phase 4 Pioglitazone and sulphonylurea;Pioglitazone and sulphonylurea;Pioglitazone and metformin;Pioglitazone and metformin
10 Effect of Prenatal Nutritional Supplementation on Birth Outcome in Hounde District, Burkina Faso Completed NCT00909974 Phase 4
11 Evaluation of a New Thermostable Formulation of FLOLAN in Japanese Subjects Completed NCT02705807 Phase 4 FLOLAN injection with currently marketed diluent;FLOLAN injection with reformulated diluent
12 A Study of Mircera (C.E.R.A.) in Patients With Pre-Dialysis Chronic Renal Anemia Completed NCT01342640 Phase 4 methoxy polyethylene glycol-epoetin beta [Mircera]
13 Humanalbumin, Hydroxyethylstarch and Ringer Lactate During Cardiac Surgery Completed NCT01174719 Phase 4 volume replacement;Humanalbumin 5%;volume replacement
14 Prevention of Intrauterine Growth Retardation in Hounde District, Burkina Faso Completed NCT00642408 Phase 4
15 A Community Setting Study of Malaria After Systematic Treatment of Symptomatic Carriers of P. Falciparum With COA566 (Coartem®) Completed NCT01256658 Phase 4 COA566
16 Efficacy Assessment of Insulin Glargine Versus LiraglutidE After Oral Agents Failure Completed NCT01117350 Phase 4 Insulin glargine;Liraglutide;Metformin
17 Delivery of Iron and Zinc Supplements: Evaluation of Interaction Effect on Biochemical and Clinical Outcomes Completed NCT00470158 Phase 4
18 Epoetin Alfa (Hemax®) Phase IV Study in Chemotherapy Induced Anemia Completed NCT01374373 Phase 4
19 TissueLink Study During Multi-Level Spine Surgery Completed NCT01300559 Phase 4
20 Effect of Metformin in Patients With Type-1 Diabetes With Inadequate Glycaemic Control by Insulin and Diet Completed NCT00118937 Phase 4 Metformin;Placebo.;Placebo.
21 Phase IV Study With a 36-week Extension Period to Evaluate the Efficacy and Safety of Dapagliflozin Therapy When Added to the Therapy of Japanese Patients With Type 2 Diabetes With Inadequate Glycemic Control on Insulin. Completed NCT02157298 Phase 4 Dapagliflozin 5 mg;Placebo tablet
22 A Study of Methoxy Polyethylene Glycol-Epoetin Beta (Mircera) for the Treatment of Chronic Renal Anemia in Participants With Diabetic Nephropathy Recruiting NCT01191983 Phase 4 Methoxy polyethylene glycol-epoetin beta [Mircera]
23 Comparison Study of Two Iron Compounds for Treatment of Anemia in Hemodialysis Patients Recruiting NCT02198495 Phase 4 Supplementation of ferric carboxymaltose;Supplementation of iron sucrose
24 Trial of Captafer® vs. Oral Iron Sulfate in the Treatment of Iron Deficiency Anemia in Patients With IBD Recruiting NCT02774057 Phase 4 Captafer®;Iron Sulfate
25 Treatment of Keloidscars With Intralesional Triamcinolone and 5-fluorouracil Injections-prospective, Randomized, Controlled Trial - Pilot Study Recruiting NCT02155439 Phase 4 5-fluorouracil;Triamcinolone
26 Randomized Evaluation of Anagliptin Versus Sitagliptin On Low-density lipoproteiN Cholesterol in Diabetes Trial Recruiting NCT02330406 Phase 4 Anagliptin;Sitagliptin
27 Bovine Lactoferrin Versus Ferrous Sulphate In The Treatment Of Iron Deficiency Anemia During Pregnancy Recruiting NCT03202615 Phase 4 F (ferrous sulphate)
28 Ramipril Treatment of Claudication Recruiting NCT02842424 Phase 4 Ramipril
29 A Randomized Controlled Trial Evaluating One Drop | Premium With Afrezza vs. One Drop | Premium Alone Recruiting NCT03313960 Phase 4 Afrezza plus One Drop | Premium
30 Mortality Reduction After Oral Azithromycin: Morbidity Study Recruiting NCT02048007 Phase 4 Azithromycin;Placebo
31 Ribavirin for Severe Acute and Chronic Hepatitis E Virus Infection. Recruiting NCT02558114 Phase 4 Ribavirin
32 Contraception in Women With Sickle Cell Disease Active, not recruiting NCT02594462 Phase 4 etonogestrel-releasing implant contraceptive
33 Risk Clinical Stratification of Sickle Cell Disease in Nigeria, Assessment of Efficacy/Safety of Hydroxyurea Treatment Active, not recruiting NCT02149537 Phase 4 hydroxyurea
34 Once Weekly GLP-1 in Persons With Spinal Cord Injury Not yet recruiting NCT03292315 Phase 4 Exenatide 2 MG Injection [Bydureon]
35 Effect of Anti-diabetic Drugs on Glycemic Variability Not yet recruiting NCT02925559 Phase 4 Dapagliflozin;Gliclazide MR
36 Survival on Peritoneal Dialysis (PD) Versus Hemodialysis (HD) in China Terminated NCT01413074 Phase 4
37 Tetra-NIRS Clinical Study Terminated NCT00871975 Phase 4
38 Effectiveness and Safety of Two Approaches to the Management of Type 2 Diabetes Mellitus in Australian Primary Care Terminated NCT00950534 Phase 4 INSULIN GLARGINE (HOE901);Oral Anti Diabetics (OAD)
39 Better Acceptance of Single Injection Apidra Added to Once Daily Lantus Versus Twice Daily Premixed Insulin in Real Life Use Setting Terminated NCT01079364 Phase 4 Insulin glulisine;Insulin glargine;Premixed insulin (Insulin Aspart 30/70 )
40 Effect of Iron Depletion by Phlebotomy Plus Lifestyle Changes vs. Lifestyle Changes Alone on Liver Damage in Patients With Nonalcoholic Fatty Liver Disease With Increased Iron Stores Unknown status NCT00658164 Phase 3
41 Psychoneuroimmunology Therapy in Uncontrolled Diabetic Patients: A Quasi-experimental Study Unknown status NCT02536820 Phase 3 Conventional treatment
42 Comparison Study of Standard Care Against Combination of Growth Factors Agents for Low-risk Myelodysplastic Syndromes Unknown status NCT01196715 Phase 3 Darbepoetin alpha;Filgrastim
43 Erythropoietin (EPO) and Granulocyte-Colony Stimulating Factor (G-CSF) for Low-Risk Myelodysplastic Syndromes (MDS) Unknown status NCT00234143 Phase 2, Phase 3 Darbepoetin
44 A Study of Intravenous Mircera in Dialysis Patients With Chronic Renal Disease and Anemia. Completed NCT00576303 Phase 3 methoxy polyethylene glycol-epoetin beta [Mircera]
45 A Study of Monthly Subcutaneous (SC) Mircera for Maintenance Treatment of Participants With Chronic Kidney Disease on Peritoneal Dialysis Completed NCT00737477 Phase 3 Methoxy polyethylene glycol-epoetin beta
46 A Study of Subcutaneous Mircera For The Maintenance Treatment of Anemia in Patients With Chronic Kidney Disease Not on Dialysis Completed NCT00642967 Phase 3 methoxy polyethylene glycol-epoetin beta [Mircera]
47 A Study of Subcutaneous Mircera in Participants With Chronic Kidney Disease Not Treated With ESA or on Dialysis Completed NCT00559637 Phase 3 Methoxy polyethylene glycol-epoetin beta
48 A Study of Subcutaneous C.E.R.A. for the Treatment of Anemia in Pre-Dialysis Patients. Completed NCT00576628 Phase 3 methoxy polyethylene glycol-epoetin beta [C.E.R.A.]
49 A Multicenter Extension Study of Taliglucerase Alfa in Pediatric Subjects With Gaucher Disease Completed NCT01411228 Phase 3 Taliglucerase alfa
50 A Study of Subcutaneous C.E.R.A. for the Maintenance of Hemoglobin Levels in Participants With Chronic Renal Anemia Not on Dialysis. Completed NCT00642304 Phase 3 methoxy polyethylene glycol-epoetin beta [C.E.R.A.]

Search NIH Clinical Center for Hemoglobin E Disease

Genetic Tests for Hemoglobin E Disease

Genetic tests related to Hemoglobin E Disease:

id Genetic test Affiliating Genes
1 Hemoglobin E 29 24 HBB
2 Hemoglobin E Disease 29

Anatomical Context for Hemoglobin E Disease

MalaCards organs/tissues related to Hemoglobin E Disease:

39
Kidney, Liver, Heart, Skin, Bone, Uterus, Prostate

Publications for Hemoglobin E Disease

Articles related to Hemoglobin E Disease:

(show all 35)
id Title Authors Year
1
Pregnancy Outcomes Among Women with Homozygous Hemoglobin E Disease: A Retrospective Cohort Study. ( 27456306 )
2016
2
Hemoglobin E disease and glycosylated hemoglobin. ( 26425484 )
2015
3
Detection of beta-thalassemia/hemoglobin E disease in samples which initially were diagnosed as homozygous hemoglobin E. ( 23865372 )
2013
4
Massive hemothorax due to intrathoracic extramedullary hematopoiesis in a patient with beta thalassemia hemoglobin E disease. ( 24319860 )
2013
5
Thrombotic thrombocytopenic purpura in a patient with hemoglobin E disease-the importance of timely examination of a blood film. ( 22473629 )
2012
6
Outcomes of pregnancies complicated by beta-thalassemia/hemoglobin E disease. ( 19084837 )
2009
7
Hemoglobin E disease with concomitant tuberculosis. ( 19008605 )
2008
8
Hemoglobin E disease in North Indian population: a report of 11 cases. ( 17654063 )
2007
9
Severe beta(0) thalassemia/hemoglobin E disease caused by de novo 22-base pair duplication in the paternal allele of beta globin gene. ( 17160997 )
2007
10
Hemostatic alterations in splenectomized and non-splenectomized patients with beta-thalassemia/hemoglobin E disease. ( 17382994 )
2007
11
Allogeneic peripheral blood stem cell transplantation in children with homozygous beta-thalassemia and severe beta-thalassemia/hemoglobin E disease. ( 15087953 )
2004
12
Hemin: a possible cause of oxidative stress in blood circulation of beta-thalassemia/hemoglobin E disease. ( 12653201 )
2003
13
Sickle cell-hemoglobin E disease in an Indian family. ( 12035368 )
2001
14
Clinical manifestation of beta-thalassemia/hemoglobin E disease. ( 11132229 )
2000
15
Hydroxyurea increases hemoglobin F levels and improves the effectiveness of erythropoiesis in beta-thalassemia/hemoglobin E disease. ( 8562958 )
1996
16
Role of alternatively spliced beta E-globin mRNA on clinical severity of beta-thalassemia/hemoglobin E disease. ( 8629114 )
1995
17
Identification of five rare mutations including a novel frameshift mutation causing beta zero-thalassemia in Thai patients with beta zero-thalassemia/hemoglobin E disease. ( 1515453 )
1992
18
Increase in spontaneous platelet aggregation in beta-thalassemia/hemoglobin E disease: a consequence of splenectomy. ( 1298991 )
1992
19
Liver tissue injury secondary to iron overload in beta-thalassemia/hemoglobin E disease. ( 1298983 )
1992
20
Sickle cell-hemoglobin E disease: clinical findings and implications. ( 1960615 )
1991
21
Cardiac involvement in beta-thalassemia/hemoglobin E disease: clinical and hemodynamic findings. ( 2237594 )
1990
22
Cerebral thrombosis in beta-thalassemia/hemoglobin E disease. ( 2339462 )
1990
23
Prenatal diagnosis of the fetus at risk for beta-thalassemia/hemoglobin E disease: a report of the first case in Thailand. ( 3572289 )
1987
24
Oropharyngeal colonization with aerobic bacteria in beta-thalassemia/hemoglobin E disease. ( 3318952 )
1987
25
Hemoglobin E disease in pregnancy. ( 6151925 )
1984
26
Zinc and copper status in hemoglobin H disease and beta-thalassemia/hemoglobin E disease. ( 6817576 )
1982
27
Intracranial extramedullary hematopoiesis in beta-thalassemia/hemoglobin E disease. ( 7258183 )
1981
28
Extramedullary hematopoiesis of cranial dura mater and choroid plexus and terminal convulsions in a patient with thalassemia-hemoglobin E disease. ( 512525 )
1979
29
Hemoglobin-E, disease with mitral stenosis (a case report). ( 1032837 )
1976
30
Maternal and fetal outcome associated with hemoglobin E trait and hemoglobin E disease. ( 1079930 )
1975
31
Thalassemia-hemoglobin E disease in a Tamil christian subject. Report of a case. ( 4718417 )
1973
32
Thalassemia hemoglobin E disease. ( 5506679 )
1970
33
Pathology of abnormal hemoglobin diseases seen in Thailand. I. Pathology of beta-thalassemia hemoglobin E disease. ( 4225872 )
1967
34
A further example of thalassemia-hemoglobin E disease in Turkey. ( 4956512 )
1965
35
The hemoglobin E syndromes. II. Sickle-cell-hemoglobin E disease. ( 13792277 )
1960

Variations for Hemoglobin E Disease

ClinVar genetic disease variations for Hemoglobin E Disease:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 HBB NM_000518.4(HBB): c.79G> A (p.Glu27Lys) single nucleotide variant Pathogenic,protective rs33950507 GRCh37 Chromosome 11, 5248173: 5248173

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:

id 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:

id Name GO ID Score Top Affiliating Genes
1 blood microparticle GO:0072562 9.26 F2 HBB HBD HBE1
2 hemoglobin complex GO:0005833 8.8 HBB HBD HBE1

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

id Name GO ID Score Top Affiliating Genes
1 protein heterooligomerization GO:0051291 9.26 HBB HBE1
2 hemostasis GO:0007599 9.16 F2 F5
3 oxygen transport GO:0015671 9.13 HBB HBD HBE1
4 blood coagulation GO:0007596 9.02 F2 F5 HBB HBD HBE1

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

id Name GO ID Score Top Affiliating Genes
1 iron ion binding GO:0005506 9.43 HBB HBD HBE1
2 heme binding GO:0020037 9.33 HBB HBD HBE1
3 oxygen binding GO:0019825 9.13 HBB HBD HBE1
4 oxygen transporter activity GO:0005344 8.8 HBB HBD HBE1

Sources for Hemoglobin E Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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