MCID: HMG029
MIFTS: 39

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 52 71
Sickle Cell-Hemoglobin E Disease Syndrome 52 58
Hb Ss Disease 29 6
Hbse Disease 52 58
Sickle Cell - Hemoglobin E Disease 52
Anemia, Sickle Cell 71
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 72 C0272085
Orphanet 58 ORPHA251375
UMLS 71 C0002895 C1112747

Summaries for Hemoglobin Se Disease

NIH Rare Diseases : 52 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 sickle cell disease and alpha-thalassemia, and has symptoms including edema, abdominal pain and chest pain. An important gene associated with Hemoglobin Se Disease is HBB (Hemoglobin Subunit Beta). The drugs Iron and Deferasirox have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and t cells.

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 66)
# Related Disease Score Top Affiliating Genes
1 sickle cell disease 12.2
2 alpha-thalassemia 10.3
3 hemoglobin e disease 10.2
4 glucosephosphate dehydrogenase deficiency 10.2
5 plasmodium falciparum malaria 10.1
6 hemolytic anemia 10.1
7 thalassemia 10.1
8 fetal hemoglobin quantitative trait locus 6 10.1
9 helix syndrome 10.1
10 splenic sequestration 10.1
11 splenic infarction 10.1
12 hemoglobin d disease 10.1
13 47,xyy 10.0
14 splenomegaly 10.0
15 avascular necrosis 10.0
16 sickle cell anemia 10.0
17 malaria 10.0
18 hemoglobin e-beta-thalassemia syndrome 10.0
19 beta-thalassemia 10.0
20 acute chest syndrome 10.0
21 hemoglobinopathy 10.0
22 fetal hemoglobin quantitative trait locus 1 9.9
23 down syndrome 9.9
24 anemia, x-linked, with or without neutropenia and/or platelet abnormalities 9.9
25 deficiency anemia 9.9
26 microcytic anemia 9.9
27 megaloblastic anemia 9.9
28 hemoglobin c disease 9.9
29 hand skill, relative 9.8
30 hypertension, essential 9.8
31 nail disorder, nonsyndromic congenital, 2 9.8
32 sarcoidosis 1 9.8
33 cystic fibrosis 9.8
34 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 9.8
35 plasmodium falciparum blood infection level 9.8
36 gallbladder disease 1 9.8
37 diabetes mellitus, ketosis-prone 9.8
38 leukemia, acute lymphoblastic 9.8
39 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2 9.8
40 erythrocytosis, familial, 6 9.8
41 oculocutaneous albinism 9.8
42 salmonellosis 9.8
43 inclusion body myopathy with early-onset paget disease of bone with or without frontotemporal dementia 2 9.8
44 osteomyelitis 9.8
45 cholelithiasis 9.8
46 hemiplegia 9.8
47 respiratory failure 9.8
48 lyme disease 9.8
49 hemosiderosis 9.8
50 neutropenia 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:


edema, abdominal pain, chest pain, angina pectoris

Drugs & Therapeutics for Hemoglobin Se Disease

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

(show top 50) (show all 332)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Iron Approved, Experimental Phase 4 15438-31-0, 7439-89-6 27284 23925
2
Deferasirox Approved, Investigational Phase 4 201530-41-8 5493381
3
Hydromorphone Approved, Illicit Phase 4 466-99-9 5284570
4
Deferoxamine Approved, Investigational Phase 4 70-51-9 2973
5
Tocopherol Approved, Investigational Phase 4 1406-66-2, 54-28-4 14986
6
Sulfadoxine Approved, Investigational Phase 4 2447-57-6 17134
7
Pyrimethamine Approved, Investigational, Vet_approved Phase 4 58-14-0 4993
8
Desogestrel Approved Phase 4 54024-22-5 40973
9
Etonogestrel Approved, Investigational Phase 4 54048-10-1 40976 6917715
10
Proguanil Approved Phase 4 500-92-5 4923
11
Amodiaquine Approved, Investigational Phase 4 86-42-0 2165
12
Deferiprone Approved Phase 4 30652-11-0 2972
13
Ketamine Approved, Vet_approved Phase 4 6740-88-1 3821
14
Ketorolac Approved Phase 4 66635-83-4, 74103-06-3 3826
15
Vitamin E Approved, Nutraceutical, Vet_approved Phase 4 59-02-9 14985
16
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
17
Vitamin D3 Approved, Nutraceutical Phase 4 67-97-0 5280795 6221
18
Ergocalciferol Approved, Nutraceutical Phase 4 50-14-6 5280793
19
Calcifediol Approved, Nutraceutical Phase 4 19356-17-3 5283731 6433735
20 Tocotrienol Investigational Phase 4 6829-55-6
21
Dihydroartemisinin Experimental, Investigational Phase 4 71939-50-9 6918483
22
Piperaquine Experimental, Investigational Phase 4 4085-31-8 5079497
23 Liver Extracts Phase 4
24 Chelating Agents Phase 4
25 Iron Chelating Agents Phase 4
26 Tocotrienols Phase 4
27 Tocopherols Phase 4
28 Folic Acid Antagonists Phase 4
29 Antiprotozoal Agents Phase 4
30 Antiparasitic Agents Phase 4
31 Antimalarials Phase 4
32 Progestins Phase 4
33 Contraceptive Agents Phase 4
34
Ethylene Phase 4 74-85-1 6325
35 Artemisinins Phase 4
36 Artemisinine Phase 4
37 Calciferol Phase 4
38 Ergocalciferols Phase 4
39 Vitamin D2 Phase 4
40 Hydroxycholecalciferols Phase 4
41 Hemostatics Phase 4
42 Deamino Arginine Vasopressin Phase 4
43 Vasopressins Phase 4
44 Arginine Vasopressin Phase 4
45 Coagulants Phase 4
46 Heptavalent Pneumococcal Conjugate Vaccine Phase 4
47 Anesthetics, Dissociative Phase 4
48
Heroin Phase 4 5462328
49 Ketorolac Tromethamine Phase 4
50
Acetylcysteine Approved, Investigational Phase 3 616-91-1 12035

Interventional clinical trials:

(show top 50) (show all 725)
# 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 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
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 Rejuvesol® Washed RBC in Sickle Cell Patients Requiring Frequent Transfusions Completed NCT02731157 Phase 4 Rejuvesol
6 Pilot Pharmacokinetic Study In Patients With Inadequate Response To Deferasirox (Exjade) Completed NCT00749515 Phase 4 Deferoxamine;Deferasirox
7 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
8 Future of Spermatogenesis in Men With Sickle Cell Disease Medically Treated. Completed NCT01609192 Phase 4 Hydrea® (hydroxyurea )
9 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)
10 The Efficacy and Safety of Ferriprox® for the Treatment of Transfusional Iron Overload in Patients With Sickle Cell Disease or Other Anemias Recruiting NCT02041299 Phase 4 Deferiprone;Deferoxamine
11 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
12 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
13 Use of Etonogestrel-releasing Contraceptive Implant in Women With Sickle Cell Disease Active, not recruiting NCT02594462 Phase 4 etonogestrel-releasing implant contraceptive
14 Enhancing Preventive Therapy of Malaria In Children With Sickle Cell Anemia in East Africa (EPiTOMISE) Active, not recruiting NCT03178643 Phase 4 Proguanil Oral Tablet;Sulfadoxine/Pyrimethanine-Amodiaquine (SP-AQ);Dihydroartemisinin-Piperaquine (DP)
15 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
16 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 Enrolling by invitation NCT03176849 Phase 4
17 Early Low-dose Ketamine Infusion Versus Usual Care for Sickle Cell Pain Crisis: a Randomized, Prospective Study. Not yet recruiting NCT04005209 Phase 4 Ketamine
18 Desmopressin as a Therapy for Nocturnal Enuresis in Pediatric Patients With Sickle Cell Disease Not yet recruiting NCT04420585 Phase 4 Desmopressin
19 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 Not yet recruiting NCT04400487 Phase 4 Voxelotor
20 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
21 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
22 A Pilot Study on the Effects of Intravenous Ketamine on Acute Pain Crisis in Patients With Sickle Cell Disease Terminated NCT00252122 Phase 4 Ketamine
23 Ketorolac Versus Ibuprofen for the Painful Crisis of Sickle Cell Disease - Southwestern Comprehensive Sickle Cell Center Terminated NCT00115336 Phase 4 Intravenous Ketorolac;Ibuprofen
24 Endothelial Function in Patients With Sickle Cell Anemia Before and After Sildenafil Withdrawn NCT00937144 Phase 4 Viagra (Sildenafil);placebo
25 Non-Invasive Assessment of Opioid Analgesia in Children With Sickle Cell Disease Withdrawn NCT00513864 Phase 4 Dextromethorphan;Codeine;Morphine
26 Transfusion Alternatives Pre-Operatively in Sickle Cell Disease Unknown status NCT00512577 Phase 3
27 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
28 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
29 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
30 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
31 Stroke Prevention in Sickle Cell Anemia (STOP 1) Completed NCT00000592 Phase 3
32 Multicenter Study of Hydroxyurea in Patients With Sickle Cell Anemia (MSH) Completed NCT00000586 Phase 3 hydroxyurea
33 MAST - Magnesium for Sickle Cell Acute Crisis in Children Completed NCT00313963 Phase 3 Magnesium Sulfate;Normal Saline
34 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
35 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
36 Evaluation of Repeat Administration of Purified Poloxamer 188 in Vaso-Occlusive Crisis of Sickle Cell Disease (EPIC-E): An Open-Label Safety Extension Trial Assessing Repeat Administration of MST-188 (Purified Poloxamer 188) Injection in Subjects With Sickle Cell Disease Experiencing Vaso Occlusive Crisis Completed NCT02449616 Phase 3 MST-188
37 Evaluation of Purified Poloxamer 188 in Vaso-Occlusive Crisis of Sickle Cell Disease (EPIC): A Phase 3 Randomized, Double-Blind, Placebo-Controlled, Multicenter Clinical Trial of MST-188 (Purified Poloxamer 188) Injection in Subjects With Sickle Cell Disease Experiencing Vaso Occlusive Crisis Completed NCT01737814 Phase 3 Saline;MST-188
38 Phase III Randomized Study of Poloxamer 188 for Vaso-Occlusive Crisis of Sickle Cell Disease Completed NCT00004408 Phase 3 poloxamer 188
39 A Study to Provide Expanded Access of (Exjade®) Deferasirox to Patients With Congenital Disorders of Red Blood Cells and Chronic Iron Overload From Blood Transfusions Who Cannot Adequately be Treated With Other Locally Approved Iron Chelators Completed NCT00235391 Phase 3 Deferasirox
40 A Phase 3, Open-Label, Single-Arm Trial Evaluating the Safety, Tolerability, and Immunogenicity of 13-valent Pneumococcal Conjugate Vaccine in Children With Sickle Cell Disease Previously Immunized With 23vPS Vaccine Completed NCT00918580 Phase 3
41 Penicillin Prophylaxis in Sickle Cell Disease (PROPS) Completed NCT00000585 Phase 3 penicillin
42 N-Acetylcysteine in Patients With Sickle Cell Disease - Reducing the Incidence of Daily Life Pain Completed NCT01849016 Phase 3 N-Acetylcysteine;Placebo
43 A Randomized, Controlled, Double-blind Clinical Trial of L-arginine as Adjuvant Therapy for Sickle Cell Disease Completed NCT01142219 Phase 3 L-arginine;Placebo
44 Ameliorating Attention Problems in Children With SCD Completed NCT01411280 Phase 3 methylphenidate
45 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
46 Intravenous Magnesium for Sickle Cell Vasoocclusive Crisis Completed NCT01197417 Phase 2, Phase 3 Intravenous Magnesium Sulfate;Normal Saline Placebo
47 Bicentric Study of the Effect of Inhaled Nitric Oxide Compared to Placebo in Acute Chest Syndrome of Adult Sickle Cell Patients Completed NCT00748423 Phase 2, Phase 3 Nitric Oxide;Placebo
48 Presumptive Treatment With Sulfadoxine- Pyrimethamine Versus Weekly Chloroquine for Malaria Prophylaxis in Children With Sickle Cell Anemia Completed NCT00399074 Phase 3 sulfadoxine pyrimethamine
49 Choosing Opioid Management for Pain and Analyzing ACS Rates Equally Completed NCT01380197 Phase 3 Morphine;Nubain
50 Evaluation of the Lung Capillary Blood Volume in Children With Sickle Cell Disease Completed NCT00560261 Phase 3

Search NIH Clinical Center for Hemoglobin Se Disease

Inferred drug relations via UMLS 71 / NDF-RT 50 :


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, T Cells, Endothelial, Testes, Kidney, Spleen

Publications for Hemoglobin Se Disease

Articles related to Hemoglobin Se Disease:

(show top 50) (show all 54)
# Title Authors PMID Year
1
Hemoglobins S and C interfere with actin remodeling in Plasmodium falciparum-infected erythrocytes. 6
22075726 2011
2
Sickle hemoglobin confers tolerance to Plasmodium infection. 6
21529713 2011
3
Genetic variation in human HBB is associated with Plasmodium falciparum transmission. 6
20305663 2010
4
Haemoglobin S and haemoglobin C: 'quick but costly' versus 'slow but gratis' genetic adaptations to Plasmodium falciparum malaria. 6
18048408 2008
5
Impaired cytoadherence of Plasmodium falciparum-infected erythrocytes containing sickle hemoglobin. 6
18192399 2008
6
Elderly survivors with homozygous sickle cell disease. 6
17287491 2007
7
How malaria has affected the human genome and what human genetics can teach us about malaria. 6
16001361 2005
8
A new variant with two amino acid substitutions: Hb S-Cameroon [beta6(A3)Glu-->Val;beta90(F6)Glu-->Lys]. 6
15182055 2004
9
Primary role for adherent leukocytes in sickle cell vascular occlusion: a new paradigm. 6
11880644 2002
10
Arginine supplementation of sickle transgenic mice reduces red cell density and Gardos channel activity. 6
11830454 2002
11
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
12
Hb Köln [beta98(FG5)Val-->Met]: the first case found in a Chinese family. 6
9859938 1998
13
A transgenic mouse model of hemoglobin S Antilles disease. 6
9166865 1997
14
Mortality in sickle cell disease. Life expectancy and risk factors for early death. 6
7993409 1994
15
Sequence of the -530 region of the beta-globin gene of sickle cell anemia patients with the Arabian haplotype. 6
8199597 1994
16
Why are some genetic diseases common? Distinguishing selection from other processes by molecular analysis of globin gene variants. 6
8462981 1993
17
A novel sickle cell mutation of yet another origin in Africa: the Cameroon type. 6
1376298 1992
18
Trapped-oligonucleotide nucleotide incorporation (TONI) assay, a simple method for screening point mutations. 6
1301203 1992
19
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
20
Genetic disease detection and DNA amplification using cloned thermostable ligase. 6
1986365 1991
21
Haemoglobin alpha 2 beta 2 23Val----Ile produced in Escherichia coli facilitates Hb S polymerization. 6
2189492 1990
22
A transgenic mouse model of sickle cell disorder. 6
2296310 1990
23
Hb A-like sickle haemoglobin: Hb S-providence. 6
3191036 1988
24
Molecular basis and prenatal diagnosis of beta-thalassemia. 6
3048433 1988
25
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
26
Beta S gene in Sicily is in linkage disequilibrium with the Benin haplotype: implications for gene flow. 6
2893541 1988
27
Evidence of the African origin of sickle cell hemoglobin in western Sicily. 6
2898460 1988
28
Sickle cell trait in a white Jewish family presenting as splenic infarction at high altitude. 6
3354556 1988
29
Position-independent, high-level expression of the human beta-globin gene in transgenic mice. 6
3690667 1987
30
Globin gene-associated restriction-fragment-length polymorphisms in southern African peoples. 6
2891298 1987
31
Rapid prenatal diagnosis of sickle cell anemia by a new method of DNA analysis. 6
3821796 1987
32
Hemoglobin S Antilles: a variant with lower solubility than hemoglobin S and producing sickle cell disease in heterozygotes. 6
3467311 1986
33
Geographical survey of beta S-globin gene haplotypes: evidence for an independent Asian origin of the sickle-cell mutation. 6
3752087 1986
34
Hematologically and genetically distinct forms of sickle cell anemia in Africa. The Senegal type and the Benin type. 6
2579336 1985
35
Evidence for the multicentric origin of the sickle cell hemoglobin gene in Africa. 6
6584911 1984
36
Origin of the beta S-globin gene in blacks: the contribution of recurrent mutation or gene conversion or both. 6
6583683 1984
37
Use of restriction endonucleases for mapping the allele for beta s-globin. 6
6285354 1982
38
Linkage of beta-thalassaemia mutations and beta-globin gene polymorphisms with DNA polymorphisms in human beta-globin gene cluster. 6
6280057 1982
39
Sickle gene. Its origin and diffusion from West Africa. 6
6268660 1981
40
Direct identification of sickle cell anemia by blot hybridization. 6
6272289 1981
41
Antenatal diagnosis of sickle-cell anaemia by D.N.A. analysis of amniotic-fluid cells. 6
81926 1978
42
Identification of a nondeletion defect in alpha-thalassemia. 6
909565 1977
43
Relatively benign sickle-cell anaemia in 60 patients aged over 30 in the West Indies. 6
4232783 1968
44
Abnormal human haemoglobins. III. The chemical difference between normal and sickle cell haemoglobins. 6
13852872 1959
45
Gene mutations in human haemoglobin: the chemical difference between normal and sickle cell haemoglobin. 6
13464827 1957
46
A specific chemical difference between the globins of normal human and sickle-cell anaemia haemoglobin. 6
13369537 1956
47
Protection afforded by sickle-cell trait against subtertian malareal infection. 6
13115700 1954
48
Further studies on hemoglobin C. I. A description of three additional families segregating for hemoglobin C and sickle cell hemoglobin. 6
13066514 1953
49
Unrecognized hemoglobin SE disease as microcytosis. 61
27365881 2016
50
First Reported Case of Proliferative Retinopathy in Hemoglobin SE Disease. 61
25210638 2014

Variations for Hemoglobin Se Disease

ClinVar genetic disease variations for Hemoglobin Se Disease:

6 (show top 50) (show all 60) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 HBB NM_000518.4(HBB):c.19G>A (p.Glu7Lys)SNV Pathogenic 15126 rs33930165 11:5248233-5248233 11:5227003-5227003
2 HBB NM_000518.5(HBB):c.79G>A (p.Glu27Lys)SNV Pathogenic 15161 rs33950507 11:5248173-5248173 11:5226943-5226943
3 HBB NM_000518.4(HBB):c.92G>C (p.Arg31Thr)SNV Pathogenic 15234 rs33960103 11:5248160-5248160 11:5226930-5226930
4 HBB NM_000518.4(HBB):c.364G>A (p.Glu122Lys)SNV Pathogenic 15292 rs33946267 11:5246908-5246908 11:5225678-5225678
5 HBB NM_000518.5(HBB):c.249G>Y (p.Lys83Asn)SNV Pathogenic 15319 rs33991993 11:5247873-5247873 11:5226643-5226643
6 HBB NM_000518.4(HBB):c.332T>C (p.Leu111Pro)SNV Pathogenic 15352 rs35256489 11:5246940-5246940 11:5225710-5225710
7 HBB NM_000518.5(HBB):c.52A>T (p.Lys18Ter)SNV Pathogenic 15401 rs33986703 11:5248200-5248200 11:5226970-5226970
8 HBB NM_000518.5(HBB):c.118C>T (p.Gln40Ter)SNV Pathogenic 15402 rs11549407 11:5248004-5248004 11:5226774-5226774
9 HBB NM_000518.5(HBB):c.47G>A (p.Trp16Ter)SNV Pathogenic 15403 rs63750783 11:5248205-5248205 11:5226975-5226975
10 HBB NM_000518.5(HBB):c.364G>T (p.Glu122Ter)SNV Pathogenic 15404 rs33946267 11:5246908-5246908 11:5225678-5225678
11 HBB NM_000518.5(HBB):c.130G>T (p.Glu44Ter)SNV Pathogenic 15406 rs33922842 11:5247992-5247992 11:5226762-5226762
12 HBB NM_000518.5(HBB):c.25_26del (p.Lys9fs)deletion Pathogenic 15413 rs35497102 11:5248226-5248227 11:5226996-5226997
13 HBB NM_000518.5(HBB):c.20del (p.Glu7fs)deletion Pathogenic 15418 rs63749819 11:5248232-5248232 11:5227002-5227002
14 HBB NM_000518.5(HBB):c.17_18del (p.Pro6fs)deletion Pathogenic 15422 rs34889882 11:5248234-5248235 11:5227004-5227005
15 HBB NM_000518.5(HBB):c.112del (p.Trp38fs)deletion Pathogenic 15431 rs63750532 11:5248010-5248010 11:5226780-5226780
16 HBB NM_000518.5(HBB):c.2T>G (p.Met1Arg)SNV Pathogenic 15434 rs33941849 11:5248250-5248250 11:5227020-5227020
17 HBB NM_000518.5(HBB):c.92+1G>ASNV Pathogenic 15436 rs33971440 11:5248159-5248159 11:5226929-5226929
18 HBB NM_000518.5(HBB):c.315+1G>ASNV Pathogenic 15438 rs33945777 11:5247806-5247806 11:5226576-5226576
19 HBB NM_000518.5(HBB):c.92+5G>CSNV Pathogenic 15447 rs33915217 11:5248155-5248155 11:5226925-5226925
20 HBB NM_000518.5(HBB):c.93-21G>ASNV Pathogenic 15454 rs35004220 11:5248050-5248050 11:5226820-5226820
21 HBB NM_000518.5(HBB):c.316-106C>GSNV Pathogenic 15457 rs34690599 11:5247062-5247062 11:5225832-5225832
22 HBB NM_000518.5(HBB):c.316-197C>TSNV Pathogenic 15458 rs34451549 11:5247153-5247153 11:5225923-5225923
23 HBB NM_000518.5(HBB):c.-79A>GSNV Pathogenic 15469 rs34598529 11:5248330-5248330 11:5227100-5227100
24 HBB NM_000518.5(HBB):c.-78A>CSNV Pathogenic 15470 rs33931746 11:5248329-5248329 11:5227099-5227099
25 HBB NM_000518.5(HBB):c.316-2A>GSNV Pathogenic 21191 rs33914668 11:5246958-5246958 11:5225728-5225728
26 HBB NM_000518.5(HBB):c.70G>A (p.Val24Ile)SNV Pathogenic 478897 rs33929459 11:5248182-5248182 11:5226952-5226952
27 HBB NM_000518.5(HBB):c.-137C>TSNV Pathogenic 36287 rs33941377 11:5248388-5248388 11:5227158-5227158
28 HBB NM_000518.4(HBB):c.27dupG (p.Ser10Valfs*14)duplication Pathogenic 36308 rs35699606 11:5248224-5248225 11:5226994-5226995
29 HBB NM_000518.5(HBB):c.*110T>CSNV Pathogenic 36332 rs33978907 11:5246718-5246718 11:5225488-5225488
30 HBB NM_000518.5(HBB):c.-137C>ASNV Pathogenic/Likely pathogenic 36285 rs33941377 11:5248388-5248388 11:5227158-5227158
31 HBB NM_000518.5(HBB):c.75T>A (p.Gly25=)SNV Pathogenic/Likely pathogenic 15459 rs33951465 11:5248177-5248177 11:5226947-5226947
32 HBB NM_000518.5(HBB):c.-78A>GSNV Pathogenic/Likely pathogenic 15471 rs33931746 11:5248329-5248329 11:5227099-5227099
33 HBB NM_000518.5(HBB):c.92+1G>TSNV Pathogenic/Likely pathogenic 15437 rs33971440 11:5248159-5248159 11:5226929-5226929
34 HBB NM_000518.5(HBB):c.85dup (p.Leu29fs)duplication Pathogenic/Likely pathogenic 15432 rs35532010 11:5248166-5248167 11:5226936-5226937
35 HBB NM_000518.4(HBB):c.126_129delCTTT (p.Phe42fs)deletion Pathogenic/Likely pathogenic 15417 rs80356821 11:5247993-5247996 11:5226763-5226766
36 HBB NM_000518.5(HBB):c.82G>T (p.Ala28Ser)SNV Pathogenic/Likely pathogenic 15239 rs35424040 11:5248170-5248170 11:5226940-5226940
37 HBB NM_000518.5(HBB):c.-138C>ASNV Pathogenic/Likely pathogenic 393701 rs33944208 11:5248389-5248389 11:5227159-5227159
38 HBB NM_000518.5(HBB):c.316-7C>ASNV Pathogenic/Likely pathogenic 551906 rs34483965 11:5246963-5246963 11:5225733-5225733
39 HBB NM_000518.5(HBB):c.274C>T (p.Leu92=)SNV Conflicting interpretations of pathogenicity 439144 rs769583496 11:5247848-5247848 11:5226618-5226618
40 HBB NM_000518.5(HBB):c.294C>T (p.His98=)SNV Conflicting interpretations of pathogenicity 439783 rs34515413 11:5247828-5247828 11:5226598-5226598
41 HBB NM_000518.5(HBB):c.246C>A (p.Leu82=)SNV Conflicting interpretations of pathogenicity 439778 rs145669504 11:5247876-5247876 11:5226646-5226646
42 HBB NM_000518.5(HBB):c.389C>T (p.Ala130Val)SNV Conflicting interpretations of pathogenicity 15245 rs111645889 11:5246883-5246883 11:5225653-5225653
43 HBB NM_000518.5(HBB):c.20A>T (p.Glu7Val)SNV Conflicting interpretations of pathogenicity 15333 rs334 11:5248232-5248232 11:5227002-5227002
44 HBB NM_000518.4(HBB):c.208G>A (p.Gly70Ser)SNV Conflicting interpretations of pathogenicity 15138 rs33947415 11:5247914-5247914 11:5226684-5226684
45 HBB NM_000518.4(HBB):c.364G>C (p.Glu122Gln)SNV Conflicting interpretations of pathogenicity 15152 rs33946267 11:5246908-5246908 11:5225678-5225678
46 HBB NM_000518.5(HBB):c.92+6T>CSNV Conflicting interpretations of pathogenicity 15450 rs35724775 11:5248154-5248154 11:5226924-5226924
47 HBB NM_000518.4(HBB):c.410G>A (p.Gly137Asp)SNV Conflicting interpretations of pathogenicity 15202 rs33949486 11:5246862-5246862 11:5225632-5225632
48 HBB NM_000518.5(HBB):c.-106G>CSNV Conflicting interpretations of pathogenicity 36281 rs63750681 11:5248357-5248357 11:5227127-5227127
49 HBB NM_000518.5(HBB):c.-31C>TSNV Conflicting interpretations of pathogenicity 36291 rs63750628 11:5248282-5248282 11:5227052-5227052
50 HBB NM_000518.5(HBB):c.324C>T (p.Gly108=)SNV Conflicting interpretations of pathogenicity 36322 rs193922562 11:5246948-5246948 11:5225718-5225718

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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