MCID: HMG001
MIFTS: 47

Hemoglobin C Disease malady

Categories: Rare diseases, Blood diseases, Genetic diseases

Aliases & Classifications for Hemoglobin C Disease

Aliases & Descriptions for Hemoglobin C Disease:

Name: Hemoglobin C Disease 12 50 56 29 42 14 69
Hb C Disease 50 69
Hb-C Disease 12

Characteristics:

Orphanet epidemiological data:

56
hemoglobin c disease
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Belgium); Age of onset: All ages; Age of death: normal life expectancy;

Classifications:



External Ids:

Disease Ontology 12 DOID:2859
ICD10 33 D58.2
MeSH 42 D006445
NCIt 47 C34675
SNOMED-CT 64 51053007
Orphanet 56 ORPHA2132
UMLS via Orphanet 70 C0019021
MESH via Orphanet 43 D006445
ICD10 via Orphanet 34 D58.2
UMLS 69 C0019021

Summaries for Hemoglobin C Disease

NIH Rare Diseases : 50 hemoglobin c disease is a condition affecting a protein in the blood (hemoglobin) which transports oxygen throughout the body. symptoms of this condition can include fatigue, weakness, and anemia. the spleen can also become enlarged as a result of this disease. for many people with this condition, symptoms are relatively mild and the lifespan is normal. some people with this condition do not exhibit any symptoms at all. treatment for any symptoms that do present include taking folic acid supplements. hemoglobin c disease is caused by a mutation in the gene that provides instructions to the body to make hemoglobin. this mutation causes a change in the shape of the red blood cells so that oxygen isn't carried as well throughout the body.  last updated: 11/10/2016

MalaCards based summary : Hemoglobin C Disease, also known as hb c disease, is related to sickle cell anemia and adult-onset multiple mitochondrial dna deletion syndrome due to dguok deficiency. An important gene associated with Hemoglobin C Disease is HBB (Hemoglobin Subunit Beta), and among its related pathways/superpathways are Folate Metabolism and Malaria. The drugs Peginterferon alfa-2b and Ribavirin have been mentioned in the context of this disorder. Affiliated tissues include spleen, bone and bone marrow.

Wikipedia : 71 Hemoglobin C (abbreviated as Hb C or HbC) is an abnormal hemoglobin in which substitution of a glutamic... more...

Related Diseases for Hemoglobin C 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 C Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 42)
id Related Disease Score Top Affiliating Genes
1 sickle cell anemia 11.6
2 adult-onset multiple mitochondrial dna deletion syndrome due to dguok deficiency 10.2 HBB HBD
3 middle ear adenoma 10.2 HBB HBD
4 costello syndrome 10.2 HBB HBD
5 hepatic infarction 10.2 HBB HBD
6 intracranial structure hemangioma 10.2 HBB HBD
7 brachydactyly type a1d 10.2 HBB HBE1
8 chylocele of tunica vaginalis 10.2 HBB HBD
9 mixed malaria 10.1 HBB HBD
10 fallopian tube leiomyoma 10.1 HBB MTHFR
11 meningeal melanocytoma 10.1 HBB HBD HBE1
12 tk2-related mitochondrial dna depletion syndrome, myopathic form 10.1 HBB HBD
13 extrahepatic bile duct papillary adenoma 10.1 HBB HBD MRAP
14 michelin tire baby syndrome 10.0 HBA1 HBB
15 surfactant metabolism dysfunction, pulmonary, 3 10.0 HBA1 HBB
16 chronic laryngitis 10.0 HBA1 HBB
17 anthracosis 10.0 CDIPT MRAP
18 alzheimer's disease 11 9.9 HBA1 MTHFR
19 fetal hemoglobin quantitative trait locus 1 9.9 HBA1 HBB
20 larynx sarcoma 9.9 HBA1 HBB HBD
21 oxyphilic adenoma 9.9 HBA1 HBB HBE1
22 thalassemia 9.9
23 splenic sequestration 9.9
24 splenic infarction 9.8
25 purpura 9.8
26 sickle cell disease 9.8
27 thrombotic thrombocytopenic purpura 9.8
28 tracheal cancer 9.8 HBA1 HBB HBD HBE1
29 t-cell large granular lymphocyte leukemia 9.8 HBA1 HBB HBD HBE1
30 hemoglobinopathy 9.7
31 hemolytic anemia 9.7
32 osteomyelitis 9.7
33 vernal conjunctivitis 9.7 HBA1 MTHFR
34 gaba-transaminase deficiency 9.6 HBA1 HBB HBD HBE1 SCN2A
35 thalassemia-beta, dominant inclusion-body 9.6 HBA1 HBB HBD HBE1 SCN2A
36 heinz body anemia 9.6 HBA1 HBB HBD HBE1 SCN2A
37 rheumatic fever 9.6
38 essential thrombocythemia 9.6
39 retinitis 9.6
40 thrombosis 9.6
41 gout 9.6
42 endometrial adenocarcinoma 8.7 CDIPT CXCR1 HBA1 HBB HBD HBE1

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



Diseases related to Hemoglobin C Disease

Symptoms & Phenotypes for Hemoglobin C Disease

Drugs & Therapeutics for Hemoglobin C Disease

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

(show top 50) (show all 874)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Peginterferon alfa-2b Approved Phase 4,Phase 3,Phase 2 99210-65-8, 215647-85-1
2
Ribavirin Approved Phase 4,Phase 3,Phase 2 36791-04-5 37542
3
Sertraline Approved Phase 4 79617-96-2 68617
4
Ursodeoxycholic acid Approved, Investigational Phase 4 128-13-2 31401
5
Dopamine Approved Phase 4,Phase 3,Phase 2,Phase 1 51-61-6, 62-31-7 681
6
Methylphenidate Approved, Investigational Phase 4 113-45-1 4158
7
Insulin Aspart Approved Phase 4,Phase 3,Phase 2 116094-23-6 16132418
8
Insulin Lispro Approved Phase 4,Phase 3,Phase 2 133107-64-9
9
Insulin-glulisine Approved Phase 4,Phase 3,Phase 2 207748-29-6
10
Zinc Approved Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1 7440-66-6 32051 23994
11
rituximab Approved Phase 4,Phase 3 174722-31-7 10201696
12
Iron Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 7439-89-6 23925
13
Albendazole Approved, Vet_approved Phase 4 54965-21-8 2082
14
Artemether Approved Phase 4,Phase 3 71963-77-4 119380 68911
15
Lumefantrine Approved Phase 4,Phase 3 82186-77-4 6437380
16
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 22916-47-8 4189
17
Praziquantel Approved, Vet_approved Phase 4 55268-74-1 4891
18
Bivalirudin Approved, Investigational Phase 4,Phase 3 128270-60-0 16129704
19
Heparin Approved, Investigational Phase 4,Phase 3,Phase 2 9005-49-6 772 46507594
20
Amoxicillin Approved, Vet_approved Phase 4 26787-78-0 33613 2171
21
Metronidazole Approved Phase 4,Phase 1,Phase 2 443-48-1 4173
22
Benzocaine Approved Phase 4,Phase 3,Phase 2,Phase 1 1994-09-7, 94-09-7 2337
23
Everolimus Approved Phase 4,Phase 3,Phase 2,Phase 1 159351-69-6 6442177
24
Mycophenolate mofetil Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 128794-94-5 5281078
25
Mycophenolic acid Approved Phase 4,Phase 3,Phase 2,Phase 1 24280-93-1 446541
26
Pancrelipase Approved Phase 4,Phase 3,Phase 2,Phase 1 53608-75-6
27
Sirolimus Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 53123-88-9 5284616 6436030 46835353
28
Tacrolimus Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 104987-11-3 445643 439492
29
Insulin Glargine Approved Phase 4,Phase 3,Phase 2,Phase 1 160337-95-1
30
Metformin Approved Phase 4,Phase 2,Phase 3,Phase 1 657-24-9 14219 4091
31
Pioglitazone Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 111025-46-8 4829
32
Darbepoetin alfa Approved, Investigational Phase 4,Phase 2,Phase 3 11096-26-7, 209810-58-2
33
Glyburide Approved Phase 4,Phase 3,Phase 2 10238-21-8 3488
34
Aspirin Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1 50-78-2 2244
35
Copper Approved Phase 4,Phase 2 15158-11-9, 7440-50-8 27099
36
Hydroxocobalamin Approved Phase 4,Phase 3,Phase 2 13422-51-0 11953898 5460373 44475014
37
Selenium Approved, Vet_approved Phase 4,Phase 3,Phase 2 7782-49-2
38
Liraglutide Approved Phase 4,Phase 3,Phase 2 204656-20-2
39
Repaglinide Approved, Investigational Phase 4,Phase 3 135062-02-1 65981
40
Linagliptin Approved Phase 4,Phase 3,Phase 2 668270-12-0 10096344
41
Rivaroxaban Approved Phase 4 366789-02-8
42
Omeprazole Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2 73590-58-6 4594
43
Saxagliptin Approved Phase 4,Phase 3,Phase 2 361442-04-8 11243969
44
Alogliptin Approved Phase 4,Phase 3,Phase 2 850649-61-5 11450633
45
Efavirenz Approved, Investigational Phase 4,Phase 3 154598-52-4 64139
46
Lamivudine Approved, Investigational Phase 4,Phase 3 134678-17-4 60825
47
Amlodipine Approved Phase 4,Phase 3 88150-42-9 2162
48
Hydrochlorothiazide Approved, Vet_approved Phase 4,Phase 3,Phase 2 58-93-5 3639
49
Exenatide Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 141758-74-9 15991534
50
Menthol Approved Phase 4,Phase 3 2216-51-5 16666

Interventional clinical trials:

(show top 50) (show all 2390)
id Name Status NCT ID Phase
1 A Pilot Study to Treat Patients With Chronic Hepatitis C Virus (HCV) Genotype 1 and End-Stage Renal Disease (ESRD) Unknown status NCT01731301 Phase 4
2 Diabetes and Depression in Hispanics and African Americans: Treatment of Depression With Sertraline and Its Effect on A1c and Quality of Life Unknown status NCT00624013 Phase 4
3 Efficacy and Safety of Ursodeoxycholic Acid (UDCA) Added to the DPP-4 Inhibitor in People With Type 2 Diabetes and Chronic Liver Diseases Unknown status NCT01337440 Phase 4
4 Clinical Study to Evaluate the Efficacy of Anakinra in Patients With Rheumatoid Arthritis and Diabetes Unknown status NCT02236481 Phase 4
5 Improving Function, Quality of Life, Glycemia in Diabetics With Dementia Unknown status NCT00792662 Phase 4
6 Curcumin for Type 2 Diabetic Patients Unknown status NCT01052597 Phase 4
7 Periodontal Therapy in Coronary Artery Patients Unknown status NCT01609725 Phase 4
8 Effect of Vitamin D on Metabolic Parameters in Patients With the Metabolic Syndrome Unknown status NCT01237769 Phase 4
9 Continuous Glucose Monitoring in Patients With Type 2 Diabetes Unknown status NCT00529815 Phase 4
10 The ACT-OUT Trial: ACTivity OUTcomes Based on High Carbohydrate or High Fat Diet in Metabolic Syndrome Unknown status NCT01357382 Phase 4
11 CONSISTENT 1: Metabolic and Safety Outcomes of Hylenex Recombinant (Hyaluronidase Human Injection) Preadministered at CSII Infusion Site in Participants With Type 1 Diabetes Mellitus (T1DM) Unknown status NCT01848990 Phase 4
12 Immune Intervention With Rituximab to Preserve Beta Cell Function in Early Onset Type 1 Diabetes Unknown status NCT01280682 Phase 4
13 Hemostasis in Kocher-Langenbeck Approaches for Acetabular Surgery Using a Topical Surgical Hemostat (Vitagel) Unknown status NCT01230931 Phase 4
14 Nutrient Fortified Oat Drink Unknown status NCT01418898 Phase 4
15 The Use of Iron Therapy for Patients With Anemia After Surgery Unknown status NCT01975272 Phase 4
16 Artemisinin-based Combination Therapy-Intermittent Preventive Treatment (ACT-IPT) Trial Among Schoolchildren in Kassena-Nankana, Ghana Unknown status NCT01459146 Phase 4
17 Probiotic BIO-25 as a Supplement to Statins for the Treatment of Hypercholesterolemia Unknown status NCT01849185 Phase 4
18 Comparing Bivalirudin Versus Heparin/ GP IIB/IIA in Patients Undergoing PCI Unknown status NCT00476944 Phase 4
19 Metronidazole and Amoxicillin for the Treatment of Type 2 Diabetic Subjects With Periodontitis Unknown status NCT02135952 Phase 4
20 A Study To Compare Sirolimus Versus Tacrolimus In De Novo Simultaneous Pancreas- Kidney Allograft Recipients Receiving An Induction Therapy With Antithymocyte Globulin Plus Mycophenolate Mofetil Plus Corticosteroids Unknown status NCT00693446 Phase 4
21 Assessment of the Effect of Vitamin C on Anemia in Patients With Continuous Ambulatory Peritoneal Dialysis Completed NCT02780505 Phase 4
22 Relationship of Periodontal Disease Treatment and Type 2 Diabetes Mellitus in the Gullah Population Completed NCT01798225 Phase 4
23 Bedtime Insulins and Oral Antihyperglycemic Drugs in Type 2 Diabetes Completed NCT00641407 Phase 4
24 Glargine Versus NPH in Patients With Chronic Kidney Disease Completed NCT02451917 Phase 4
25 A Safety and Efficacy Study of Two Dose Levels of Taliglucerase Alfa in Pediatric Subjects With Gaucher Disease Completed NCT01132690 Phase 4
26 Impact of Periodontal Treatment on Serum Levels of Hepcidin and Hemoglobin Completed NCT02641210 Phase 4
27 Duloxetine in Patients With Diabetic in Peripheral Neuropathic Pain With or Without Co-morbid Major Depressive Disorder Completed NCT00844194 Phase 4
28 Pharmacist-led Group Medical Visits to Help With Diabetes Management Completed NCT00554671 Phase 4
29 A Study on the Correlation Between Interleukin 28B Genotypes With Clinical and Demographic Characteristics in Treatment-Naïve and Treatment-Experienced Patients With Chronic Hepatitis C Completed NCT01675427 Phase 4
30 Efficacy Study of Pioglitazone and Metformin and Association Between Pioglitazone Response and Peroxisome Proliferator-activated Receptor Gamma Gene Variants in Bangladeshi Type 2 Diabetes Mellitus Subjects Completed NCT01589445 Phase 4
31 Observational Study to Assess Glycosylated Hemoglobin Changes After 6 Months of Treatment With Pioglitazone. Completed NCT00449553 Phase 4
32 Ferumoxytol for Iron-Deficiency Anemia in Chronic Kidney Disease and Peritoneal Dialysis Patients Completed NCT01942460 Phase 4
33 Effect of Atorvastatin on Glycemic Control in Prediabetic Patients Completed NCT02470455 Phase 4
34 Galvus on Met Phase 4 Study : Study to Evaluate the Efficacy and Safety of Early Combination of Vildagliptin and Metformin in Patients With Type 2 Diabetes Mellitus Completed NCT00975065 Phase 4
35 Study of Safety and Effectiveness of Apidra® in Combination With Basal Insulin in Patients With Type 1 & 2 Diabetes Mellitus Completed NCT00526513 Phase 4
36 Effect of Immediate Hemoglobin A1c on Glycemic Control in Children With Type I Diabetes Mellitus Completed NCT00898534 Phase 4
37 Comparison Among Erythropoietin Stimulating Agents Completed NCT02049346 Phase 4
38 Blood Glucose Self Monitoring and HbA1c Effects on Glucose Control Completed NCT00688363 Phase 4
39 A Study of Subcutaneous Mircera for the Maintenance Treatment of Participants With Chronic Renal Anemia Completed NCT00642668 Phase 4
40 AVANDIA With Glyburide In African American And Hispanic Patients With Type 2 Diabetes Not Controlled by Glyburide Alone Completed NCT00333723 Phase 4
41 Contribution of Pancreatic αcells Function to Blood Glucose Regulation in Chinese Type 2 Diabetics― the Effect of Sitagliptin on Glucagon Secretion, Insulin Secretion and Insulin Resistance in Chinese Type 2 Diabetics Completed NCT01610154 Phase 4
42 A Study to Observe the Number of Patients Who Develop Pure Red Cell Aplasia (PRCA, a Rare Form of Anemia) While Receiving Epoetin Alfa or Other Recombinant Erythropoietins Completed NCT00211029 Phase 4
43 Initiation and Titration of Amaryl Completed NCT01144728 Phase 4
44 Pioglitazone Versus Metformin in Type 2 Diabetes Completed NCT00815399 Phase 4
45 Ticagrelor China Pharmacokinetic/Pharmacodynamic Study Completed NCT02064985 Phase 4
46 Safety and Effectiveness Study of Insulin Glargine (LANTUS) Initiation and Titration in Patients With Type 2 Diabetes Completed NCT01127269 Phase 4
47 A Study Comparing Insulin Intensification Therapies in Patients With Type 2 Diabetes Mellitus Completed NCT01175811 Phase 4
48 Effect of Prenatal Nutritional Supplementation on Birth Outcome in Hounde District, Burkina Faso Completed NCT00909974 Phase 4
49 A Study of The Relationship Between Drop in Hemoglobin and Sustained Virological Response in Patients With Chronic Hepatitis C Treated With Copegus (Ribavirin) and Pegasys (Peginterferon Alfa-2a) Completed NCT01585324 Phase 4
50 Efficacy Assessment of Insulin Glargine Versus LiraglutidE After Oral Agents Failure Completed NCT01117350 Phase 4

Search NIH Clinical Center for Hemoglobin C Disease

Cochrane evidence based reviews: hemoglobin c disease

Genetic Tests for Hemoglobin C Disease

Genetic tests related to Hemoglobin C Disease:

id Genetic test Affiliating Genes
1 Hemoglobin C Disease 29

Anatomical Context for Hemoglobin C Disease

MalaCards organs/tissues related to Hemoglobin C Disease:

39
Spleen, Bone, Bone Marrow, Placenta

Publications for Hemoglobin C Disease

Articles related to Hemoglobin C Disease:

(show top 50) (show all 97)
id Title Authors Year
1
Abnormal expression of inflammatory genes in placentas of women with sickle cell anemia and sickle hemoglobin C disease. ( 27546026 )
2016
2
Hemoglobin C disease. ( 25488433 )
2015
3
Medullary Microvascular Thrombosis and Injury in Sickle Hemoglobin C Disease. ( 26546258 )
2015
4
The effects of exchange transfusion for prevention of complications during pregnancy of sickle hemoglobin C disease patients. ( 26337929 )
2015
5
Impaired blood rheology plays a role in the chronic disorders associated with sickle cell-hemoglobin C disease. ( 24633868 )
2014
6
Red blood cell nitric oxide synthase activation is increased in patients with sickle cell hemoglobin C disease. ( 25379969 )
2014
7
Homozygous hemoglobin C disease. ( 24137818 )
2013
8
Severe proliferative retinopathy is associated with blood hyperviscosity in sickle cell hemoglobin-C disease but not in sickle cell anemia. ( 23076002 )
2013
9
Autoimmune haemolysis in unexpectedly mild sickle cell/hemoglobin C disease. ( 23760759 )
2013
10
Relationships between systemic vascular resistance, blood rheology and nitric oxide in children with sickle cell anemia or sickle cell-hemoglobin C disease. ( 23302597 )
2013
11
Diverse phenotypic expression of sickle cell hemoglobin C disease in an Indian family. ( 20556388 )
2011
12
Paravertebral mass in a patient with hemoglobin C disease. ( 21602071 )
2011
13
Thrombotic thrombocytopenic purpura and multiorgan system failure in a child with sickle cell-hemoglobin C disease. ( 19525485 )
2010
14
Red blood cell aggregation, aggregate strength and oxygen transport potential of blood are abnormal in both homozygous sickle cell anemia and sickle-hemoglobin C disease. ( 19644138 )
2009
15
Heme degradation and oxidative stress in murine models for hemoglobinopathies: thalassemia, sickle cell disease and hemoglobin C disease. ( 18262448 )
2008
16
Successful mobilization and transplantation of filgrastim mobilized hematopoietic stem cells in sickle cell-hemoglobin C disease. ( 16708064 )
2006
17
Homozygous hemoglobin C disease. ( 16276560 )
2005
18
Hemoglobin C disease. ( 15470225 )
2004
19
Images in clinical medicine. Homozygous hemoglobin C disease. ( 15215497 )
2004
20
Sickle cell hemoglobin C disease in Saudi Arabia. ( 12682691 )
2003
21
Life-threatening thrombotic thrombocytopenic purpura (TTP) in a patient with sickle cell-hemoglobin C disease. ( 12923661 )
2003
22
Intrathoracic extramedullary hematopoietic tumor in hemoglobin C disease. ( 9140302 )
1997
23
Intrathoracic extramedullary hematopoietic tumor in hemoglobin C disease. ( 9140301 )
1997
24
Acute splenic complications in children with sickle cell-hemoglobin C disease. ( 9202620 )
1997
25
Intrathoracic extramedullary hematopoietic tumor in hemoglobin C disease. ( 8639058 )
1996
26
Retrospective diagnosis of sickle cell-hemoglobin C disease and parvovirus infection by molecular DNA analysis of postmortem tissue. ( 8522312 )
1995
27
Iron deficiency and hemoglobin C disease. ( 7608805 )
1995
28
Evolution of a retinal hemorrhage in a patient with sickle cell-hemoglobin C disease. ( 7639661 )
1995
29
Hemoglobin C disease in infancy and childhood. ( 7965426 )
1994
30
Thrombotic thrombocytopenic purpura associated with sickle cell-hemoglobin C disease. ( 7973909 )
1994
31
Concurrent sickle cell hemoglobin C disease and diabetes mellitus: no added risk of proliferative retinopathy? ( 7966431 )
1994
32
The obstetric performance of sickle cell disease patients and homozygous hemoglobin C disease patients in Ile-Ife, Nigeria. ( 1351002 )
1992
33
A fatal case of acute splenic sequestration in a 53-year-old woman with sickle-hemoglobin C disease. ( 1731518 )
1992
34
The distinct pathobiology of sickle cell-hemoglobin C disease. Therapeutic implications. ( 1864818 )
1991
35
Acute renal failure in a patient with essential thrombocythemia, diabetes mellitus, and heterozygous hemoglobin C disease. ( 2300836 )
1990
36
Vasoocclusion with homozygous hemoglobin-C disease. ( 3239710 )
1988
37
Clinical presentation of sickle cell-hemoglobin C disease. ( 3761071 )
1986
38
Regulation of cation content and cell volume in hemoglobin erythrocytes from patients with homozygous hemoglobin C disease. ( 3998150 )
1985
39
Mild splenic sequestration crises in sickle-hemoglobin C disease. ( 6723180 )
1984
40
Sickle-cell hemoglobin C disease in pregnancy: report of a case with review of the literature. ( 7380681 )
1980
41
Outcome of pregnancy in sickle cell anemia and sickle cell-hemoglobin C disease. An analysis of 181 pregnancies in 98 patients, and a review of the literature. ( 7416213 )
1980
42
Massive splenic infarction in sickle cell-hemoglobin C disease: angiographic findings. ( 410268 )
1977
43
Spontaneous rupture of the spleen in homozygous hemoglobin C disease. ( 576317 )
1977
44
Splenic sequestration syndrome in sickle/hemoglobin C disease at low altitude. ( 874706 )
1977
45
Splenic sequestration syndrome at mountain altitudes in sickle/hemoglobin C disease. ( 830911 )
1977
46
Splenic infarction in sickle cell-hemoglobin C disease. Demonstration by selective splenic arteriogram and scintillation scan. ( 949192 )
1976
47
Severe proliferative retinopathy as the only sign of sickle cell hemoglobin C disease. ( 1275039 )
1976
48
Red cell life span in sickle cell-hemoglobin C disease with a note about sickle cell-hemoglobin O ARAB. ( 1120186 )
1975
49
Occlusion of the macular capillaries in sickle cell hemoglobin C disease. ( 4819448 )
1974
50
Sickle cell and sickle cell-hemoglobin C disease during pregnancy. ( 5049901 )
1972

Variations for Hemoglobin C Disease

ClinVar genetic disease variations for Hemoglobin C Disease:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 HBB NM_000518.4(HBB): c.19G> A (p.Glu7Lys) single nucleotide variant Pathogenic,protective rs33930165 GRCh37 Chromosome 11, 5248233: 5248233

Expression for Hemoglobin C Disease

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

Pathways for Hemoglobin C Disease

GO Terms for Hemoglobin C Disease

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

id Name GO ID Score Top Affiliating Genes
1 endocytic vesicle lumen GO:0071682 9.26 HBA1 HBB
2 blood microparticle GO:0072562 9.26 HBA1 HBB HBD HBE1
3 haptoglobin-hemoglobin complex GO:0031838 9.16 HBA1 HBB
4 hemoglobin complex GO:0005833 8.92 HBA1 HBB HBD HBE1

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

id Name GO ID Score Top Affiliating Genes
1 cellular oxidant detoxification GO:0098869 9.43 HBA1 HBB
2 blood coagulation GO:0007596 9.43 HBB HBD HBE1
3 response to hydrogen peroxide GO:0042542 9.4 HBA1 HBB
4 bicarbonate transport GO:0015701 9.37 HBA1 HBB
5 positive regulation of cell death GO:0010942 9.32 HBA1 HBB
6 hydrogen peroxide catabolic process GO:0042744 9.16 HBA1 HBB
7 protein heterooligomerization GO:0051291 9.13 HBA1 HBB HBE1
8 oxygen transport GO:0015671 8.92 HBA1 HBB HBD HBE1

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

id Name GO ID Score Top Affiliating Genes
1 iron ion binding GO:0005506 9.56 HBA1 HBB HBD HBE1
2 heme binding GO:0020037 9.46 HBA1 HBB HBD HBE1
3 peroxidase activity GO:0004601 9.37 HBA1 HBB
4 haptoglobin binding GO:0031720 9.32 HBA1 HBB
5 oxygen binding GO:0019825 9.26 HBA1 HBB HBD HBE1
6 oxygen transporter activity GO:0005344 8.92 HBA1 HBB HBD HBE1

Sources for Hemoglobin C 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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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