MCID: HMG029
MIFTS: 41

Hemoglobin Se Disease

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

Aliases & Classifications for Hemoglobin Se Disease

MalaCards integrated aliases for Hemoglobin Se Disease:

Name: Hemoglobin Se Disease 20 70
Sickle Cell-Hemoglobin E Disease Syndrome 20 58
Hb Ss Disease 29 6
Hbse Disease 20 58
Sickle Cell - Hemoglobin E Disease 20
Anemia, Sickle Cell 70
Hemoglobin S 6

Characteristics:

Orphanet epidemiological data:

58
sickle cell-hemoglobin e disease syndrome
Inheritance: Autosomal recessive; Age of onset: All ages;

Classifications:

Orphanet: 58  
Rare haematological diseases


External Ids:

ICD10 via Orphanet 33 D57.2
UMLS via Orphanet 71 C0272085
Orphanet 58 ORPHA251375
UMLS 70 C0002895 C1112747

Summaries for Hemoglobin Se Disease

GARD : 20 Hemoglobin SE disease (HbSE) is an inherited condition affecting the part of the blood that carries oxygen known as hemoglobin. People with HbSE have hemoglobin that doesn't work efficiently. Symptoms usually develop in early adulthood. They may include mild anemia, enlarged spleen, reduced blood flow to the joints, and painful episodes due to blocked blood vessels. Many people with this condition have no symptoms. HbSE is caused by genetic changes ( DNA variants) in the HB B gene that cause it to not work correctly. It is inherited in an autosomal recessive pattern. This condition is diagnosed based on a clinical exam, the symptoms, and through blood tests that look for specific types of hemoglobin. Genetic testing may also be helpful. Many people with HbSE do not need treatment, while others need management of their specific symptoms.

MalaCards based summary : Hemoglobin Se Disease, also known as sickle cell-hemoglobin e disease syndrome, is related to hemoglobin e-beta-thalassemia syndrome and hemoglobin d disease, and has symptoms including angina pectoris, abdominal pain and chest pain. An important gene associated with Hemoglobin Se Disease is HBB (Hemoglobin Subunit Beta). The drugs Deferasirox and Hydromorphone have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and endothelial.

Related Diseases for Hemoglobin Se Disease

Diseases in the Hemoglobin H Disease family:

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

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

(show top 50) (show all 75)
# Related Disease Score Top Affiliating Genes
1 hemoglobin e-beta-thalassemia syndrome 29.4 LOC107133510 LOC106099062 HBB
2 hemoglobin d disease 29.4 LOC110006319 LOC107133510 HBB
3 splenic infarction 29.1 LOC107133510 LOC106099062 HBB
4 alpha-thalassemia 29.0 LOC110006319 LOC107133510 LOC106099062 HBB
5 thalassemia 29.0 LOC110006319 LOC107133510 LOC106099062 HBB
6 hemoglobin e disease 29.0 LOC107133510 LOC106099062 HBB
7 hemoglobinopathy 28.9 LOC110006319 LOC107133510 LOC106099062 HBB
8 sickle cell anemia 28.9 LOC110006319 LOC107133510 LOC106099062 HBB
9 hemolytic anemia 28.8 LOC107133510 LOC106099062 HBB
10 beta-thalassemia 28.8 LOC110006319 LOC107133510 LOC106099062 HBB
11 beta-thalassemia major 28.8 LOC110006319 LOC107133510 LOC106099062 HBB
12 hemoglobin c disease 28.8 LOC107133510 LOC106099062 HBB
13 deficiency anemia 28.7 LOC107133510 LOC106099062 HBB
14 sickle cell disease 28.7 LOC110006319 LOC107133510 LOC106099062 HBB
15 fetal hemoglobin quantitative trait locus 1 28.7 LOC110006319 LOC107133510 LOC106099062 HBB
16 malaria 28.7 LOC110006319 LOC107133510 LOC106099062 HBB
17 erythrocytosis, familial, 6 28.4 LOC110006319 LOC107133510 LOC106099062 HBB
18 glucosephosphate dehydrogenase deficiency 10.2
19 helix syndrome 10.1
20 fetal hemoglobin quantitative trait locus 6 10.1
21 splenic sequestration 10.1
22 plasmodium falciparum malaria 10.1
23 47,xyy 10.1
24 osteomyelitis 10.0
25 splenomegaly 10.0
26 avascular necrosis 10.0
27 autoimmune lymphoproliferative syndrome 10.0
28 acute chest syndrome 10.0
29 down syndrome 9.9
30 microcytic anemia 9.9
31 megaloblastic anemia 9.9
32 hand skill, relative 9.8
33 hypertension, essential 9.8
34 nail disorder, nonsyndromic congenital, 2 9.8
35 sarcoidosis 1 9.8
36 cystic fibrosis 9.8
37 plasmodium falciparum blood infection level 9.8
38 gallbladder disease 1 9.8
39 stroke, ischemic 9.8
40 diabetes mellitus, ketosis-prone 9.8
41 oculocutaneous albinism 9.8
42 salmonellosis 9.8
43 cholelithiasis 9.8
44 hemiplegia 9.8
45 respiratory failure 9.8
46 lyme disease 9.8
47 hemosiderosis 9.8
48 neutropenia 9.8
49 guillain-barre syndrome 9.8
50 hereditary spherocytosis 9.8

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



Diseases related to Hemoglobin Se Disease

Symptoms & Phenotypes for Hemoglobin Se Disease

UMLS symptoms related to Hemoglobin Se Disease:


angina pectoris; abdominal pain; chest pain; edema

Drugs & Therapeutics for Hemoglobin Se Disease

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

(show top 50) (show all 353)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Deferasirox Approved, Investigational Phase 4 201530-41-8 5493381 214348
2
Hydromorphone Approved, Illicit Phase 4 466-99-9 5284570
3
Pyrimethamine Approved, Investigational, Vet_approved Phase 4 58-14-0 4993
4
Sulfadoxine Approved, Investigational Phase 4 2447-57-6 17134
5
Dihydroartemisinin Approved, Experimental, Investigational Phase 4 71939-50-9 6918483
6
Amodiaquine Approved, Investigational Phase 4 86-42-0 2165
7
Piperaquine Approved, Experimental, Investigational Phase 4 4085-31-8 5079497
8
Proguanil Approved Phase 4 500-92-5 4923
9
Etonogestrel Approved, Investigational Phase 4 54048-10-1 6917715 40976
10
Desogestrel Approved Phase 4 54024-22-5 40973
11
Hydroxyurea Approved Phase 4 127-07-1 3657
12
Tocopherol Approved, Investigational Phase 4 1406-66-2
13
Iron Approved Phase 4 7439-89-6 23925 29936
14
Deferoxamine Approved, Investigational Phase 4 70-51-9 2973
15
Deferiprone Approved Phase 4 30652-11-0 2972
16
Lactitol Approved, Investigational Phase 4 585-86-4 157355
17
Ketamine Approved, Vet_approved Phase 4 6740-88-1 3821
18
Ibuprofen Approved Phase 4 15687-27-1 3672
19
Ketorolac Approved Phase 4 74103-06-3, 66635-83-4 3826
20
Calcifediol Approved, Nutraceutical Phase 4 19356-17-3 5283731 6433735
21
Vitamin E Approved, Nutraceutical, Vet_approved Phase 4 59-02-9 14985
22 Tocotrienol Investigational Phase 4 6829-55-6
23 Antimalarials Phase 4
24 Antiparasitic Agents Phase 4
25 Antiprotozoal Agents Phase 4
26 Artemisinine Phase 4
27 Artemisinins Phase 4
28 Hydroxycholecalciferols Phase 4
29 Contraceptive Agents Phase 4
30
Ethylene Phase 4 74-85-1 6325
31 Progestins Phase 4
32 Vitamins Phase 4
33 Nutrients Phase 4
34 Micronutrients Phase 4
35 Trace Elements Phase 4
36 Tocopherols Phase 4
37 Tocotrienols Phase 4
38 Chelating Agents Phase 4
39 Iron Chelating Agents Phase 4
40 Pharmaceutical Solutions Phase 4
41 Anti-Inflammatory Agents Phase 4
42 Anesthetics, Dissociative Phase 4
43 Antirheumatic Agents Phase 4
44 Analgesics, Non-Narcotic Phase 4
45 Anti-Inflammatory Agents, Non-Steroidal Phase 4
46 Cyclooxygenase Inhibitors Phase 4
47 Ketorolac Tromethamine Phase 4
48 Heptavalent Pneumococcal Conjugate Vaccine Phase 4
49
Heroin Phase 4 5462328
50
Magnesium Sulfate Approved, Investigational, Vet_approved Phase 3 7487-88-9 24083

Interventional clinical trials:

(show top 50) (show all 765)
# Name Status NCT ID Phase Drugs
1 Effect of Mobile-Directly Observed Therapy (DOT) on Adherence to Hydroxyurea Treatment in Adult HbSS Patients at Muhimbili National Hospital (MNH) in Tanzania: a Pilot Study Unknown status NCT02844673 Phase 4 Hydroxyurea
2 The Efficacy and Safety of Ferriprox® for the Treatment of Transfusional Iron Overload in Patients With Sickle Cell Disease or Other Anemias Unknown status NCT02041299 Phase 4 Deferiprone;Deferoxamine
3 Intranasal Fentanyl for Initial Treatment of a Vaso-occlusive Crisis: A Randomized, Double Blind Placebo Controlled Trial Completed NCT01482091 Phase 4 Fentanyl Citrate;Normal Saline
4 Does IV Acetaminophen Reduce Opioid Requirement in Pediatric Emergency Department Patients With Acute Sickle Cell Crises? Completed NCT03541980 Phase 4 Acetaminophen;Normal saline
5 Evaluation of the Impact of Renal Function on the Pharmacokinetics of Hydroxyurea (SIKLOS ®) in Normal-renal Function, Hyperfiltrating and Renal Failure Sickle Cell Disease Patients (DARH) Completed NCT02522104 Phase 4 Siklos
6 Enhancing Preventive Therapy of Malaria In Children With Sickle Cell Anemia in East Africa (EPiTOMISE) Completed NCT03178643 Phase 4 Proguanil Oral Tablet;Sulfadoxine/Pyrimethanine-Amodiaquine (SP-AQ);Dihydroartemisinin-Piperaquine (DP)
7 A Randomized Phase IV Control Trial of Single High Dose Oral Vitamin D3 (Stoss Therapy) in Pediatric Patients Undergoing HSCT to Prevent Vitamin D Deficiency and Insufficiency During Transplant Completed NCT03176849 Phase 4
8 Rejuvesol® Washed RBC in Sickle Cell Patients Requiring Frequent Transfusions Completed NCT02731157 Phase 4 Rejuvesol
9 Intranasal Fentanyl Versus Intravenous Morphine in the Emergency Department Treatment of Severe Painful Sickle Cell Crises in Children Completed NCT03682211 Phase 4 Fentanyl Citrate;Morphine sulphate
10 Use of Etonogestrel-releasing Contraceptive Implant in Women With Sickle Cell Disease Completed NCT02594462 Phase 4 etonogestrel-releasing implant contraceptive
11 Pilot Pharmacokinetic Study In Patients With Inadequate Response To Deferasirox (Exjade) Completed NCT00749515 Phase 4 Deferoxamine;Deferasirox
12 Future of Spermatogenesis in Men With Sickle Cell Disease Medically Treated. Completed NCT01609192 Phase 4 Hydrea® (hydroxyurea )
13 Comparing Acute Pain Management Protocols for Patients With Sickle Cell Disease Completed NCT02222246 Phase 4 Hydromorphone (Standardized, weight-based dosing);Morphine Sulfate (Standardized, weight-based dosing);Hydromorphone (Patient Specific dosing);Morphine Sulfate (Patient Specific dosing)
14 A Phase 4, Open-Label, Single-Center Study to Assess Pharmacokinetic Characteristics and Safety of Endari in Patients With Sickle Cell Disease Recruiting NCT04684381 Phase 4 L-glutamine
15 A Phase 4, Multicenter, Open-label Study to Evaluate the Treatment Effect of Voxelotor on Physical Activity in Adolescents and Adults With Sickle Cell Disease Recruiting NCT04400487 Phase 4 Voxelotor
16 Desmopressin as a Therapy for Nocturnal Enuresis in Pediatric Patients With Sickle Cell Disease Recruiting NCT04420585 Phase 4 Desmopressin
17 The Effect of Voxelotor on Exercise Capacity of Youths With Sickle Cell Anemia Recruiting NCT04581356 Phase 4 Voxelotor
18 Endothelial Monocyte-activating Polypeptide-II as an Endothelial Dysfunction Marker and Its Relation to the Oxidative Stress in Egyptian Sickle Patients Active, not recruiting NCT03903133 Phase 4 Vitamin E
19 Risk Stratification for Clinical Severity of Sickle Cell Disease in Nigeria and Assessment of Efficacy and Safety During Treatment With Hydroxyurea Active, not recruiting NCT02149537 Phase 4 hydroxyurea
20 Long-term Safety and Efficacy Study of Ferriprox® for the Treatment of Transfusional Iron Overload in Patients With Sickle Cell Disease or Other Anemias Enrolling by invitation NCT02443545 Phase 4 Deferiprone
21 Early Low-dose Ketamine Infusion Versus Usual Care for Sickle Cell Pain Crisis: a Randomized, Prospective Study. Not yet recruiting NCT04005209 Phase 4 Ketamine
22 An Open-label, Multi-center, Phase IV, Rollover Study for Patients With Sickle Cell Disease Who Have Completed a Prior Novartis-Sponsored Crizanlizumab Study Not yet recruiting NCT04657822 Phase 4 Crizanlizumab
23 An Indian Multi-centric Phase IV Study to Assess the Safety of Crizanlizumab With or Without Hydroxyurea Therapy in Sickle Cell Disease Patients With Vaso-occlusive Crises. Not yet recruiting NCT04662931 Phase 4 crizanlizumab
24 Ketorolac Versus Ibuprofen for the Painful Crisis of Sickle Cell Disease - Southwestern Comprehensive Sickle Cell Center Terminated NCT00115336 Phase 4 Intravenous Ketorolac;Ibuprofen
25 An Open, Multicenter Clinical Trial to Investigate the Immunogenicity and Safety of the Pneumococcal 7-Valent Conjugate Vaccine (PREVENAR) in Sickle Cell Disease Infants. Terminated NCT00368186 Phase 4
26 A Pilot Study on the Effects of Intravenous Ketamine on Acute Pain Crisis in Patients With Sickle Cell Disease Terminated NCT00252122 Phase 4 Ketamine
27 An Evaluation of the Effectiveness of Ibuprofen and Opioid (Morphine or Diamorphine) for Acute Pain in Sickle Cell Disease: a Double-blind, Placebo-controlled Randomised Trial Terminated NCT00880373 Phase 4 Ibuprofen;Placebo;Diamorphine or Morphine
28 Endothelial Function in Patients With Sickle Cell Anemia Before and After Sildenafil Withdrawn NCT00937144 Phase 4 Viagra (Sildenafil);placebo
29 Non-Invasive Assessment of Opioid Analgesia in Children With Sickle Cell Disease Withdrawn NCT00513864 Phase 4 Dextromethorphan;Codeine;Morphine
30 Preventing Stroke Triggers in Children With Sickle Cell Anaemia in Mulago Hospital, Kampala (PREST ): a Randomized Control Trial Unknown status NCT03666806 Phase 2, Phase 3
31 Omega 3 Fatty Acid Therapy for Prevention of Vaso-occlusive Crisis and Manifestations in Omani Patients With Sickle Cell Disease Unknown status NCT02525107 Phase 3
32 Ketamine as an Adjuvant Therapy for Acute Vaso Occlusive Crisis in Pediatric Patients With Sickle Cell Disease, a Pilot Study Unknown status NCT02801292 Phase 3 Ketamine
33 Development of a Ready-to-use Nutraceutical Food for Patients With Sickle Cell Disease (SCD): Testing of Vascular Support Components Unknown status NCT01718054 Phase 2, Phase 3 Chloroquine
34 A Prospective Randomized Comparative Study of Efficacy and Safety of Combined Deferiprone (DFP) and Deferasirox Versus DFP and Desferrioxamine (DFO) Therapy in Diseases With Severe Iron Overload Unknown status NCT01511848 Phase 2, Phase 3 DFP (ferriprox) and deferasirox (ICL 670);DFP, DFO
35 A Phase 3, Prospective, Randomized, Double-Blind, Placebo Controlled, Multi-center Study of SC411 for Sickle Cell Disease Unknown status NCT02604368 Phase 3 SC411;Placebo
36 Transfusion Alternatives Pre-Operatively in Sickle Cell Disease Unknown status NCT00512577 Phase 3
37 Stroke Prevention in Sickle Cell Anemia (STOP 1) Completed NCT00000592 Phase 3
38 Penicillin Prophylaxis in Sickle Cell Disease (PROPS) Completed NCT00000585 Phase 3 penicillin
39 MAST - Magnesium for Sickle Cell Acute Crisis in Children Completed NCT00313963 Phase 3 Magnesium Sulfate;Normal Saline
40 Multicenter Study of Hydroxyurea in Patients With Sickle Cell Anemia (MSH) Completed NCT00000586 Phase 3 hydroxyurea
41 A Phase 3, Multicenter ,Randomized, Double-Blind, Placebo-Controlled, Parallel-Group Study to Evaluate the Efficacy and Safety of Rivipansel (GMI-1070) in the Treatment of Vaso-Occlusive Crisis in Hospitalized Subjects With Sickle Cell Disease Completed NCT02187003 Phase 3 Rivipansel
42 Silent Cerebral Infarct Transfusion Multi-Center Clinical Trial Completed NCT00072761 Phase 3
43 Stroke Prevention in Sickle Cell Anemia (STOP 2) Completed NCT00006182 Phase 3
44 A PHASE III, PROSPECTIVE, RANDOMIZED, DOUBLE-BLIND, PLACEBO-CONTROLLED, PARALLEL-GROUP, MULTICENTER STUDY OF L GLUTAMINE THERAPY FOR SICKLE CELL ANEMIA AND SICKLE ß0-THALASSEMIA Completed NCT01179217 Phase 3 L-glutamine;Placebo
45 Hypnosis as a Pain and Symptom Management Strategy in Patients With Sickle Cell Disease Completed NCT00393250 Phase 3
46 Intravenous Magnesium for Sickle Cell Vasoocclusive Crisis Completed NCT01197417 Phase 2, Phase 3 Intravenous Magnesium Sulfate;Normal Saline Placebo
47 A Randomized, Controlled, Double-blind Clinical Trial of L-arginine as Adjuvant Therapy for Sickle Cell Disease Completed NCT01142219 Phase 3 L-arginine;Placebo
48 A Phase 3, Double-blind, Randomized, Placebo-controlled, Multicenter Study of Voxelotor Administered Orally to Patients With Sickle Cell Disease Completed NCT03036813 Phase 3 voxelotor
49 Presumptive Treatment With Sulfadoxine- Pyrimethamine Versus Weekly Chloroquine for Malaria Prophylaxis in Children With Sickle Cell Anemia Completed NCT00399074 Phase 3 sulfadoxine pyrimethamine
50 Allogeneic Hematopoietic Stem Cell Transplant for Patients With High Risk Hemoglobinopathy Using a Preparative Regimen to Achieve Stable Mixed Chimerism Completed NCT00176852 Phase 2, Phase 3 Busulfan, Fludarabine, ATG, TLI;Busulfan, Cyclophosphamide, ATG, GCSF;Campath, Fludarabine, Cyclophosphamide

Search NIH Clinical Center for Hemoglobin Se Disease

Inferred drug relations via UMLS 70 / NDF-RT 51 :


Sodium phenylbutyrate

Genetic Tests for Hemoglobin Se Disease

Genetic tests related to Hemoglobin Se Disease:

# Genetic test Affiliating Genes
1 Hb Ss Disease 29 HBB

Anatomical Context for Hemoglobin Se Disease

MalaCards organs/tissues related to Hemoglobin Se Disease:

40
Bone, Bone Marrow, Endothelial, Spleen, Liver, T Cells, Kidney

Publications for Hemoglobin Se Disease

Articles related to Hemoglobin Se Disease:

(show top 50) (show all 69)
# Title Authors PMID Year
1
The Prevalence of Sickle Cell Disease and Its Implication for Newborn Screening in Germany (Hamburg Metropolitan Area). 6
26275168 2016
2
Molecular diagnostics of the HBB gene in an Omani cohort using bench-top DNA Ion Torrent PGM technology. 6
24880717 2014
3
Prevalence of sickle cell disease in a pediatric population suffering from severe infections: a Congolese experience. 6
25023084 2014
4
Prevalence of the β(S) gene among scheduled castes, scheduled tribes and other backward class groups in Central India. 6
25023085 2014
5
An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals. 6
22975760 2013
6
Hemoglobins S and C interfere with actin remodeling in Plasmodium falciparum-infected erythrocytes. 6
22075726 2011
7
Sickle hemoglobin confers tolerance to Plasmodium infection. 6
21529713 2011
8
Genetic variation in human HBB is associated with Plasmodium falciparum transmission. 6
20305663 2010
9
Haemoglobin S and haemoglobin C: 'quick but costly' versus 'slow but gratis' genetic adaptations to Plasmodium falciparum malaria. 6
18048408 2008
10
Impaired cytoadherence of Plasmodium falciparum-infected erythrocytes containing sickle hemoglobin. 6
18192399 2008
11
Elderly survivors with homozygous sickle cell disease. 6
17287491 2007
12
How malaria has affected the human genome and what human genetics can teach us about malaria. 6
16001361 2005
13
A new variant with two amino acid substitutions: Hb S-Cameroon [beta6(A3)Glu-->Val;beta90(F6)Glu-->Lys]. 6
15182055 2004
14
Primary role for adherent leukocytes in sickle cell vascular occlusion: a new paradigm. 6
11880644 2002
15
Arginine supplementation of sickle transgenic mice reduces red cell density and Gardos channel activity. 6
11830454 2002
16
Molecular analysis of the beta-globin gene cluster in the Niokholo Mandenka population reveals a recent origin of the beta(S) Senegal mutation. 6
11741197 2002
17
Characterization of syntenin, a syndecan-binding PDZ protein, as a component of cell adhesion sites and microfilaments. 6
11179419 2001
18
Hemoglobin S/O(Arab): thirteen new cases and review of the literature. 6
10203101 1999
19
HbS-oman heterozygote: a new dominant sickle syndrome. 6
9834244 1998
20
Hb Köln [beta98(FG5)Val-->Met]: the first case found in a Chinese family. 6
9859938 1998
21
A transgenic mouse model of hemoglobin S Antilles disease. 6
9166865 1997
22
Mortality in sickle cell disease. Life expectancy and risk factors for early death. 6
7993409 1994
23
Sequence of the -530 region of the beta-globin gene of sickle cell anemia patients with the Arabian haplotype. 6
8199597 1994
24
Why are some genetic diseases common? Distinguishing selection from other processes by molecular analysis of globin gene variants. 6
8462981 1993
25
A novel sickle cell mutation of yet another origin in Africa: the Cameroon type. 6
1376298 1992
26
Hemoglobin variants and activity of the (K+Cl-) cotransport system in human erythrocytes. 6
1732017 1992
27
Trapped-oligonucleotide nucleotide incorporation (TONI) assay, a simple method for screening point mutations. 6
1301203 1992
28
Hb Rancho Mirage [beta 143(H21)His----Asp]; a variant in the 2,3-DPG binding site showing normal oxygen affinity at physiological pH. 6
1634360 1992
29
Genetic disease detection and DNA amplification using cloned thermostable ligase. 6
1986365 1991
30
Haemoglobin alpha 2 beta 2 23Val----Ile produced in Escherichia coli facilitates Hb S polymerization. 6
2189492 1990
31
A transgenic mouse model of sickle cell disorder. 6
2296310 1990
32
A new doubly substituted sickling haemoglobin: HbS-Oman. 6
2930724 1989
33
Hb A-like sickle haemoglobin: Hb S-providence. 6
3191036 1988
34
Molecular basis and prenatal diagnosis of beta-thalassemia. 6
3048433 1988
35
Structural analysis of the 5' flanking region of the beta-globin gene in African sickle cell anemia patients: further evidence for three origins of the sickle cell mutation in Africa. 6
2898142 1988
36
Beta S gene in Sicily is in linkage disequilibrium with the Benin haplotype: implications for gene flow. 6
2893541 1988
37
Evidence of the African origin of sickle cell hemoglobin in western Sicily. 6
2898460 1988
38
Sickle cell trait in a white Jewish family presenting as splenic infarction at high altitude. 6
3354556 1988
39
Globin gene-associated restriction-fragment-length polymorphisms in southern African peoples. 6
2891298 1987
40
Position-independent, high-level expression of the human beta-globin gene in transgenic mice. 6
3690667 1987
41
Rapid prenatal diagnosis of sickle cell anemia by a new method of DNA analysis. 6
3821796 1987
42
Hemoglobin S Antilles: a variant with lower solubility than hemoglobin S and producing sickle cell disease in heterozygotes. 6
3467311 1986
43
Geographical survey of beta S-globin gene haplotypes: evidence for an independent Asian origin of the sickle-cell mutation. 6
3752087 1986
44
Hematologically and genetically distinct forms of sickle cell anemia in Africa. The Senegal type and the Benin type. 6
2579336 1985
45
The interaction of hemoglobin O Arab with Hb S and beta+ thalassemia among Israeli Arabs. 6
3859465 1985
46
Evidence for the multicentric origin of the sickle cell hemoglobin gene in Africa. 6
6584911 1984
47
Origin of the beta S-globin gene in blacks: the contribution of recurrent mutation or gene conversion or both. 6
6583683 1984
48
Use of restriction endonucleases for mapping the allele for beta s-globin. 6
6285354 1982
49
Linkage of beta-thalassaemia mutations and beta-globin gene polymorphisms with DNA polymorphisms in human beta-globin gene cluster. 6
6280057 1982
50
Sickle gene. Its origin and diffusion from West Africa. 6
6268660 1981

Variations for Hemoglobin Se Disease

ClinVar genetic disease variations for Hemoglobin Se Disease:

6 (show top 50) (show all 74)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LOC106099062 , HBB , LOC107133510 NM_000518.5(HBB):c.20A>T (p.Glu7Val) SNV other 15333 rs334 GRCh37: 11:5248232-5248232
GRCh38: 11:5227002-5227002
2 LOC106099062 , HBB , LOC107133510 NM_000518.5(HBB):c.20A>T (p.Glu7Val) SNV Pathogenic 15333 rs334 GRCh37: 11:5248232-5248232
GRCh38: 11:5227002-5227002
3 LOC106099062 , HBB , LOC107133510 NM_000518.5(HBB):c.20A>T (p.Glu7Val) SNV Pathogenic 446735 rs334 GRCh37: 11:5248232-5248232
GRCh38: 11:5227002-5227002
4 LOC110006319 , HBB , LOC107133510 NM_000518.4(HBB):c.364G>A (p.Glu122Lys) SNV Pathogenic 446736 rs33946267 GRCh37: 11:5246908-5246908
GRCh38: 11:5225678-5225678
5 LOC106099062 , HBB , LOC107133510 NM_000518.5(HBB):c.249G>Y (p.Lys83Asn) SNV Pathogenic 446737 rs33991993 GRCh37: 11:5247873-5247873
GRCh38: 11:5226643-5226643
6 LOC106099062 , HBB , LOC107133510 NM_000518.5(HBB):c.20A>T (p.Glu7Val) SNV Pathogenic 446738 rs334 GRCh37: 11:5248232-5248232
GRCh38: 11:5227002-5227002
7 LOC106099062 , HBB , LOC107133510 NM_000518.4(HBB):c.271G>A (p.Glu91Lys) SNV Pathogenic 446747 rs33913712 GRCh37: 11:5247851-5247851
GRCh38: 11:5226621-5226621
8 LOC110006319 , HBB , LOC107133510 NM_000518.4(HBB):c.364G>C (p.Glu122Gln) SNV Pathogenic 15152 rs33946267 GRCh37: 11:5246908-5246908
GRCh38: 11:5225678-5225678
9 LOC106099062 , HBB , LOC107133510 NM_000518.4(HBB):c.19G>A (p.Glu7Lys) SNV Pathogenic 15126 rs33930165 GRCh37: 11:5248233-5248233
GRCh38: 11:5227003-5227003
10 LOC110006319 , HBB , LOC107133510 NM_000518.5(HBB):c.316-106C>G SNV Pathogenic 15457 rs34690599 GRCh37: 11:5247062-5247062
GRCh38: 11:5225832-5225832
11 LOC106099062 , LOC110006319 , HBB , LOC107133510 NM_000518.5(HBB):c.315+1G>A SNV Pathogenic 15438 rs33945777 GRCh37: 11:5247806-5247806
GRCh38: 11:5226576-5226576
12 LOC106099062 , HBB , LOC107133510 NM_000518.5(HBB):c.118C>T (p.Gln40Ter) SNV Pathogenic 15402 rs11549407 GRCh37: 11:5248004-5248004
GRCh38: 11:5226774-5226774
13 LOC106099062 , HBB , LOC107133510 NM_000518.5(HBB):c.93-21G>A SNV Pathogenic 15454 rs35004220 GRCh37: 11:5248050-5248050
GRCh38: 11:5226820-5226820
14 LOC106099062 , HBB , LOC107133510 NM_000518.5(HBB):c.92+6T>C SNV Pathogenic 15450 rs35724775 GRCh37: 11:5248154-5248154
GRCh38: 11:5226924-5226924
15 LOC106099062 , HBB , LOC107133510 NM_000518.5(HBB):c.92+5G>C SNV Pathogenic 15447 rs33915217 GRCh37: 11:5248155-5248155
GRCh38: 11:5226925-5226925
16 LOC106099062 , HBB , LOC107133510 NM_000518.5(HBB):c.92+1G>A SNV Pathogenic 15436 rs33971440 GRCh37: 11:5248159-5248159
GRCh38: 11:5226929-5226929
17 LOC106099062 , HBB , LOC107133510 NM_000518.5(HBB):c.52A>T (p.Lys18Ter) SNV Pathogenic 15401 rs33986703 GRCh37: 11:5248200-5248200
GRCh38: 11:5226970-5226970
18 HBB , LOC106099062 , LOC107133510 NM_000518.5(HBB):c.-79A>G SNV Pathogenic 15469 rs34598529 GRCh37: 11:5248330-5248330
GRCh38: 11:5227100-5227100
19 HBB , LOC106099062 , LOC107133510 NM_000518.5(HBB):c.-137C>A SNV Pathogenic 36285 rs33941377 GRCh37: 11:5248388-5248388
GRCh38: 11:5227158-5227158
20 LOC106099062 , HBB , LOC107133510 NM_000518.5(HBB):c.93-21G>A SNV Pathogenic 15454 rs35004220 GRCh37: 11:5248050-5248050
GRCh38: 11:5226820-5226820
21 LOC106099062 , HBB , LOC107133510 NM_000518.5(HBB):c.112del (p.Trp38fs) Deletion Pathogenic 15431 rs63750532 GRCh37: 11:5248010-5248010
GRCh38: 11:5226780-5226780
22 LOC106099062 , HBB , LOC107133510 NM_000518.5(HBB):c.75T>A (p.Gly25=) SNV Pathogenic 15459 rs33951465 GRCh37: 11:5248177-5248177
GRCh38: 11:5226947-5226947
23 LOC106099062 , HBB , LOC107133510 NM_000518.5(HBB):c.47G>A (p.Trp16Ter) SNV Pathogenic 15403 rs63750783 GRCh37: 11:5248205-5248205
GRCh38: 11:5226975-5226975
24 LOC106099062 , HBB , LOC107133510 NM_000518.5(HBB):c.25_26del (p.Lys9fs) Deletion Pathogenic 15413 rs35497102 GRCh37: 11:5248226-5248227
GRCh38: 11:5226996-5226997
25 LOC106099062 , HBB , LOC107133510 NM_000518.5(HBB):c.20del (p.Glu7fs) Deletion Pathogenic 15418 rs63749819 GRCh37: 11:5248232-5248232
GRCh38: 11:5227002-5227002
26 LOC106099062 , HBB , LOC107133510 NM_000518.5(HBB):c.2T>G (p.Met1Arg) SNV Pathogenic 15434 rs33941849 GRCh37: 11:5248250-5248250
GRCh38: 11:5227020-5227020
27 HBB , LOC106099062 , LOC107133510 NM_000518.5(HBB):c.-78A>G SNV Pathogenic 15471 rs33931746 GRCh37: 11:5248329-5248329
GRCh38: 11:5227099-5227099
28 HBB , LOC106099062 , LOC107133510 NM_000518.5(HBB):c.-106G>C SNV Pathogenic 36281 rs63750681 GRCh37: 11:5248357-5248357
GRCh38: 11:5227127-5227127
29 HBB , LOC106099062 , LOC107133510 NM_000518.5(HBB):c.-137C>T SNV Pathogenic 36287 rs33941377 GRCh37: 11:5248388-5248388
GRCh38: 11:5227158-5227158
30 LOC110006319 , HBB , LOC107133510 NM_000518.5(HBB):c.*110T>C SNV Pathogenic 36332 rs33978907 GRCh37: 11:5246718-5246718
GRCh38: 11:5225488-5225488
31 LOC110006319 , HBB , LOC107133510 NM_000518.5(HBB):c.316-2A>G SNV Pathogenic 21191 rs33914668 GRCh37: 11:5246958-5246958
GRCh38: 11:5225728-5225728
32 LOC110006319 , HBB , LOC107133510 NM_000518.5(HBB):c.316-7C>A SNV Pathogenic 551906 rs34483965 GRCh37: 11:5246963-5246963
GRCh38: 11:5225733-5225733
33 LOC110006319 , HBB , LOC107133510 NM_000518.5(HBB):c.316-197C>T SNV Pathogenic 15458 rs34451549 GRCh37: 11:5247153-5247153
GRCh38: 11:5225923-5225923
34 LOC106099062 , HBB , LOC107133510 NM_000518.5(HBB):c.92+5G>C SNV Pathogenic 15447 rs33915217 GRCh37: 11:5248155-5248155
GRCh38: 11:5226925-5226925
35 LOC106099062 , HBB , LOC107133510 NM_000518.5(HBB):c.92+1G>T SNV Pathogenic 15437 rs33971440 GRCh37: 11:5248159-5248159
GRCh38: 11:5226929-5226929
36 LOC106099062 , HBB , LOC107133510 NM_000518.5(HBB):c.92+1G>A SNV Pathogenic 15436 rs33971440 GRCh37: 11:5248159-5248159
GRCh38: 11:5226929-5226929
37 LOC106099062 , HBB , LOC107133510 NM_000518.4(HBB):c.92G>C (p.Arg31Thr) SNV Pathogenic 15234 rs33960103 GRCh37: 11:5248160-5248160
GRCh38: 11:5226930-5226930
38 LOC106099062 , HBB , LOC107133510 NM_000518.5(HBB):c.85dup (p.Leu29fs) Duplication Pathogenic 15432 rs35532010 GRCh37: 11:5248166-5248167
GRCh38: 11:5226936-5226937
39 LOC106099062 , HBB , LOC107133510 NM_000518.5(HBB):c.82G>T (p.Ala28Ser) SNV Pathogenic 15239 rs35424040 GRCh37: 11:5248170-5248170
GRCh38: 11:5226940-5226940
40 LOC106099062 , HBB , LOC107133510 NM_000518.5(HBB):c.52A>T (p.Lys18Ter) SNV Pathogenic 15401 rs33986703 GRCh37: 11:5248200-5248200
GRCh38: 11:5226970-5226970
41 LOC106099062 , HBB , LOC107133510 NM_000518.4(HBB):c.27dupG (p.Ser10Valfs*14) Duplication Pathogenic 36308 rs35699606 GRCh37: 11:5248224-5248225
GRCh38: 11:5226994-5226995
42 LOC106099062 , HBB , LOC107133510 NM_000518.5(HBB):c.17_18del (p.Pro6fs) Deletion Pathogenic 15422 rs34889882 GRCh37: 11:5248234-5248235
GRCh38: 11:5227004-5227005
43 HBB , LOC106099062 , LOC107133510 NM_000518.5(HBB):c.-78A>C SNV Pathogenic 15470 rs33931746 GRCh37: 11:5248329-5248329
GRCh38: 11:5227099-5227099
44 LOC110006319 , HBB , LOC107133510 NM_000518.4(HBB):c.410G>A (p.Gly137Asp) SNV Pathogenic 15202 rs33949486 GRCh37: 11:5246862-5246862
GRCh38: 11:5225632-5225632
45 LOC110006319 , HBB , LOC107133510 NM_000518.5(HBB):c.364G>T (p.Glu122Ter) SNV Pathogenic 15404 rs33946267 GRCh37: 11:5246908-5246908
GRCh38: 11:5225678-5225678
46 LOC110006319 , HBB , LOC107133510 NM_000518.4(HBB):c.332T>C (p.Leu111Pro) SNV Pathogenic 15352 rs35256489 GRCh37: 11:5246940-5246940
GRCh38: 11:5225710-5225710
47 LOC110006319 , HBB , LOC107133510 NM_000518.5(HBB):c.316-106C>G SNV Pathogenic 15457 rs34690599 GRCh37: 11:5247062-5247062
GRCh38: 11:5225832-5225832
48 LOC106099062 , LOC110006319 , HBB , LOC107133510 NM_000518.5(HBB):c.315+1G>A SNV Pathogenic 15438 rs33945777 GRCh37: 11:5247806-5247806
GRCh38: 11:5226576-5226576
49 LOC106099062 , HBB , LOC107133510 NM_000518.5(HBB):c.79G>A (p.Glu27Lys) SNV Pathogenic 15161 rs33950507 GRCh37: 11:5248173-5248173
GRCh38: 11:5226943-5226943
50 LOC106099062 , HBB , LOC107133510 NM_000518.5(HBB):c.130G>T (p.Glu44Ter) SNV Pathogenic 15406 rs33922842 GRCh37: 11:5247992-5247992
GRCh38: 11:5226762-5226762

Expression for Hemoglobin Se Disease

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

Pathways for Hemoglobin Se Disease

GO Terms for Hemoglobin Se Disease

Sources for Hemoglobin Se Disease

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