SCD
MCID: SCK005
MIFTS: 56

Sickle Cell Disease (SCD)

Categories: Blood diseases, Immune diseases, Rare diseases

Aliases & Classifications for Sickle Cell Disease

MalaCards integrated aliases for Sickle Cell Disease:

Name: Sickle Cell Disease 25 43 54 6 42 3
Sickling Disorder Due to Hemoglobin S 43
Sickle Cell Disorders 43
Hemoglobin S Disease 43
Anemia, Sickle Cell 70
Hbs Disease 43
Scd 43

Classifications:



External Ids:

ICD10 32 D57
UMLS 70 C0002895

Summaries for Sickle Cell Disease

MedlinePlus : 42 What is sickle cell disease (SCD)? Sickle cell disease (SCD) is a group of inherited red blood cell disorders. If you have SCD, there is a problem with your hemoglobin. Hemoglobin is a protein in red blood cells that carries oxygen throughout the body. With SCD, the hemoglobin forms into stiff rods within the red blood cells. This changes the shape of the red blood cells. The cells are supposed to be disc-shaped, but this changes them into a crescent, or sickle, shape. The sickle-shaped cells are not flexible and cannot change shape easily. Many of them burst apart as they move through your blood vessels. The sickle cells usually only last 10 to 20 days, instead of the normal 90 to 120 days. Your body may have trouble making enough new cells to replace the ones that you lost. Because of this, you may not have enough red blood cells. This is a condition called anemia, and it can make you feel tired. The sickle-shaped cells can also stick to vessel walls, causing a blockage that slows or stops the flow of blood. When this happens, oxygen can't reach nearby tissues. The lack of oxygen can cause attacks of sudden, severe pain, called pain crises. These attacks can occur without warning. If you get one, you might need to go to the hospital for treatment. What causes sickle cell disease (SCD)? The cause of SCD is a defective gene, called a sickle cell gene. People with the disease are born with two sickle cell genes, one from each parent. If you are born with one sickle cell gene, it's called sickle cell trait. People with sickle cell trait are generally healthy, but they can pass the defective gene on to their children. Who is at risk for sickle cell disease (SCD)? In the United States, most of the people with SCD are African Americans: About 1 in 13 African American babies is born with sickle cell trait About 1 in every 365 black children is born with sickle cell disease SCD also affects some people who come from Hispanic, southern European, Middle Eastern, or Asian Indian backgrounds. What are the symptoms of sickle cell disease (SCD)? People with SCD start to have signs of the disease during the first year of life, usually around 5 months of age. Early symptoms of SCD may include Painful swelling of the hands and feet Fatigue or fussiness from anemia A yellowish color of the skin (jaundice) or the whites of the eyes (icterus) The effects of SCD vary from person to person and can change over time. Most of the signs and symptoms of SCD are related to complications of the disease. They may include severe pain, anemia, organ damage, and infections. How is sickle cell disease (SCD) diagnosed? A blood test can show if you have SCD or sickle cell trait. All states now test newborns as part of their screening programs, so treatment can begin early. People who are thinking about having children can have the test to find out how likely it is that their children will have SCD. Doctors can also diagnose SCD before a baby is born. That test uses a sample of amniotic fluid (the liquid in the sac surrounding the baby) or tissue taken from the placenta (the organ that brings oxygen and nutrients to the baby). What are the treatments for sickle cell disease (SCD)? The only cure for SCD is bone marrow or stem cell transplantation. Because these transplants are risky and can have serious side effects, they are usually only used in children with severe SCD. For the transplant to work, the bone marrow must be a close match. Usually, the best donor is a brother or sister. There are treatments that can help relieve symptoms, lessen complications, and prolong life: Antibiotics to try to prevent infections in younger children Pain relievers for acute or chronic pain Hydroxyurea, a medicine that has been shown to reduce or prevent several SCD complications. It increases the amount of fetal hemoglobin in the blood. This medicine is not right for everyone; talk to your health care provider about whether you should take it. This medicine is not safe during pregnancy. Childhood vaccinations to prevent infections Blood transfusions for severe anemia. If you have had some serious complications, such as a stroke, you may have transfusions to prevent more complications. There are other treatments for specific complications. To stay as healthy as possible, make sure that you get regular medical care, live a healthy lifestyle, and avoid situations that may set off a pain crisis. NIH: National Heart, Lung, and Blood Institute

MalaCards based summary : Sickle Cell Disease, also known as sickling disorder due to hemoglobin s, is related to acute chest syndrome and sickle cell disease and related diseases, and has symptoms including angina pectoris, abdominal pain and chest pain. An important gene associated with Sickle Cell Disease is HBB (Hemoglobin Subunit Beta), and among its related pathways/superpathways are Glucose / Energy Metabolism and Factors involved in megakaryocyte development and platelet production. The drugs Proguanil and Deferasirox have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, endothelial and bone, and related phenotype is Increased shRNA abundance.

MedlinePlus Genetics : 43 Sickle cell disease is a group of disorders that affects hemoglobin, the molecule in red blood cells that delivers oxygen to cells throughout the body. People with this disease have atypical hemoglobin molecules called hemoglobin S, which can distort red blood cells into a sickle, or crescent, shape.Signs and symptoms of sickle cell disease usually begin in early childhood. Characteristic features of this disorder include a low number of red blood cells (anemia), repeated infections, and periodic episodes of pain. The severity of symptoms varies from person to person. Some people have mild symptoms, while others are frequently hospitalized for more serious complications.The signs and symptoms of sickle cell disease are caused by the sickling of red blood cells. When red blood cells sickle, they break down prematurely, which can lead to anemia. Anemia can cause shortness of breath, fatigue, and delayed growth and development in children. The rapid breakdown of red blood cells may also cause yellowing of the eyes and skin, which are signs of jaundice. Painful episodes can occur when sickled red blood cells, which are stiff and inflexible, get stuck in small blood vessels. These episodes deprive tissues and organs, such as the lungs, kidneys, spleen, and brain, of oxygen-rich blood and can lead to organ damage. A particularly serious complication of sickle cell disease is high blood pressure in the blood vessels that supply the lungs (pulmonary hypertension), which can lead to heart failure. Pulmonary hypertension occurs in about 10 percent of adults with sickle cell disease.

CDC : 3 SCD is a group of inherited red blood cell disorders. Healthy red blood cells are round, and they move through small blood vessels to carry oxygen to all parts of the body. In someone who has SCD, the red blood cells become hard and sticky and look like a C-shaped farm tool called a "sickle". The sickle cells die early, which causes a constant shortage of red blood cells. Also, when they travel through small blood vessels, they get stuck and clog the blood flow. This can cause pain and other serious problems such infection, acute chest syndrome and stroke.

Wikipedia : 73 Sickle cell disease (SCD) is a group of blood disorders typically inherited from a person's parents. The... more...

GeneReviews: NBK1377

Related Diseases for Sickle Cell Disease

Diseases in the Sickle Cell Disease family:

Sickle Cell Disease and Related Diseases

Diseases related to Sickle Cell Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 900)
# Related Disease Score Top Affiliating Genes
1 acute chest syndrome 32.8 VCAM1 HBB G6PD
2 sickle cell disease and related diseases 32.5 LOC107133510 LOC106099062 HBB
3 splenic sequestration 31.9 HBB EPO
4 hereditary persistence of fetal hemoglobin-sickle cell disease syndrome 31.8 LOC110006319 LOC107133510 LOC106099062 HBG2 HBG1 HBB
5 sickle cell anemia 31.7 VCAM1 UGT1A1 PGF LOC110006319 LOC107133510 LOC106099062
6 iron metabolism disease 31.4 HBB G6PD EPO
7 malaria 31.3 VCAM1 SELP LOC110006319 LOC107133510 LOC106099062 HBB
8 thalassemia 31.2 MIR144 LOC110006319 LOC107133510 LOC106099062 HBG1 HBD
9 splenic infarction 31.2 LOC107133510 LOC106099062 HBB
10 bilirubin metabolic disorder 31.2 UGT1A1 HBG2 G6PD EPO
11 glucosephosphate dehydrogenase deficiency 31.2 UGT1A1 HBG2 HBB G6PD
12 hemoglobin c disease 31.1 SLC12A4 LOC107133510 LOC106099062 HBD HBB
13 hemoglobinopathy 31.0 VCAM1 UGT1A1 LOC110006319 LOC107133510 LOC106099062 HBS1L
14 hemolytic anemia 30.9 UGT1A1 LOC107133510 LOC106099062 KCNN4 HBG2 HBG1
15 acute erythroid leukemia 30.8 HBG1 HBB EPO
16 deficiency anemia 30.7 SELP LOC107133510 LOC106099062 HBS1L HBG2 HBG1
17 iron deficiency anemia 30.7 HBG2 G6PD EPO
18 beta-thalassemia major 30.7 LOC110006319 LOC107133510 LOC106099062 HBB
19 hereditary spherocytosis 30.6 UGT1A1 HBG2 HBG1 HBB G6PD BCL11A
20 polycythemia 30.5 HBB HBA2 EPO
21 beta-thalassemia 30.4 UGT1A1 LOC110006319 LOC107133510 LOC106099062 HBS1L HBG2
22 peripheral vascular disease 30.4 VCAM1 SELP EPO
23 hemoglobin se disease 30.3 LOC110006319 LOC107133510 LOC106099062 HBB
24 hypertensive encephalopathy 30.3 PGF EPO
25 blood group incompatibility 30.3 UGT1A1 G6PD
26 microvascular complications of diabetes 1 30.2 VCAM1 SELP PGF EPO
27 hemoglobin e disease 30.1 LOC107133510 LOC106099062 HBS1L HBD HBB BCL11A
28 alpha-thalassemia 30.1 VCAM1 UGT1A1 LOC110006319 LOC107133510 LOC106099062 HBS1L
29 congenital hemolytic anemia 30.0 HBG2 HBG1 HBD HBB HBA2 G6PD
30 hemoglobin d disease 30.0 LOC110006319 LOC107133510 HBD HBB
31 beta-thalassemia intermedia 29.9 LOC110006319 LOC107133510 LOC106099062 HBB
32 thalassemia minor 29.8 UGT1A1 LOC107133510 LOC106099062 HBD HBB HBA2
33 fetal hemoglobin quantitative trait locus 1 29.6 LOC110006319 LOC107133510 LOC106099062 HBG2 HBG1 HBD
34 diabetes mellitus 29.6 VCAM1 SELP PGF MIR144 HBB G6PD
35 schnyder corneal dystrophy 11.5
36 sickle cell disease associated with an other hemoglobin anomaly 11.3
37 sickle beta thalassemia 11.3
38 moyamoya disease 1 11.3
39 ehlers-danlos syndrome, spondylodysplastic type, 3 11.2
40 fatty liver disease 11.2
41 qt interval, variation in 11.1
42 fetal hemoglobin quantitative trait locus 5 11.1
43 endosteal hyperostosis, autosomal dominant 11.1
44 osteomesopyknosis 11.1
45 sickle cell - hemoglobin d disease 11.1
46 carnitine deficiency, systemic primary 11.1
47 pulmonary hypertension 11.0
48 abdominal obesity-metabolic syndrome 1 11.0
49 dysostosis 11.0
50 hemosiderosis 11.0

Graphical network of the top 20 diseases related to Sickle Cell Disease:



Diseases related to Sickle Cell Disease

Symptoms & Phenotypes for Sickle Cell Disease

UMLS symptoms related to Sickle Cell Disease:


angina pectoris; abdominal pain; chest pain; edema

GenomeRNAi Phenotypes related to Sickle Cell Disease according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance GR00327-A 8.92 EPO G6PD HBD HBG2

Drugs & Therapeutics for Sickle Cell Disease

Drugs for Sickle Cell Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 361)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Proguanil Approved Phase 4 500-92-5 4923
2
Deferasirox Approved, Investigational Phase 4 201530-41-8 5493381 214348
3
Hydromorphone Approved, Illicit Phase 4 466-99-9 5284570
4
Etonogestrel Approved, Investigational Phase 4 54048-10-1 6917715 40976
5
Desogestrel Approved Phase 4 54024-22-5 40973
6
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4 437-38-7 3345
7
Pyrimethamine Approved, Investigational, Vet_approved Phase 4 58-14-0 4993
8
Sulfadoxine Approved, Investigational Phase 4 2447-57-6 17134
9
Dihydroartemisinin Approved, Experimental, Investigational Phase 4 71939-50-9 6918483
10
Amodiaquine Approved, Investigational Phase 4 86-42-0 2165
11
Piperaquine Approved, Experimental, Investigational Phase 4 4085-31-8 5079497
12
Tocopherol Approved, Investigational Phase 4 1406-66-2
13
Deferiprone Approved Phase 4 30652-11-0 2972
14
Deferoxamine Approved, Investigational Phase 4 70-51-9 2973
15
Lactitol Approved, Investigational Phase 4 585-86-4 157355
16
Ketamine Approved, Vet_approved Phase 4 6740-88-1 3821
17
Ibuprofen Approved Phase 4 15687-27-1 3672
18
Ketorolac Approved Phase 4 74103-06-3, 66635-83-4 3826
19
Vitamin D3 Approved, Nutraceutical Phase 4 67-97-0 5280795 6221
20
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
21
Ergocalciferol Approved, Nutraceutical Phase 4 50-14-6 5280793
22
Calcifediol Approved, Nutraceutical Phase 4 19356-17-3 5283731 6433735
23
Vitamin E Approved, Nutraceutical, Vet_approved Phase 4 59-02-9 14985
24 Tocotrienol Investigational Phase 4 6829-55-6
25 Vitamins Phase 4
26 Trace Elements Phase 4
27 Nutrients Phase 4
28 Vitamin D2 Phase 4
29 Ergocalciferols Phase 4
30 Calciferol Phase 4
31 Micronutrients Phase 4
32 Hormones Phase 4
33 Antipyretics Phase 4
34 Folic Acid Antagonists Phase 4
35 Contraceptive Agents Phase 4
36 Antimalarials Phase 4
37 Antiparasitic Agents Phase 4
38 Antiprotozoal Agents Phase 4
39
Ethylene Phase 4 74-85-1 6325
40 Progestins Phase 4
41 Artemisinine Phase 4
42 Artemisinins Phase 4
43 Hydroxycholecalciferols Phase 4
44 Anesthetics Phase 4
45 Anesthetics, Intravenous Phase 4
46 Anesthetics, General Phase 4
47 Tocopherols Phase 4
48 Tocotrienols Phase 4
49 Chelating Agents Phase 4
50 Iron Chelating Agents Phase 4

Interventional clinical trials:

(show top 50) (show all 779)
# Name Status NCT ID Phase Drugs
1 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
2 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
3 Rejuvesol® Washed RBC in Sickle Cell Patients Requiring Frequent Transfusions Completed NCT02731157 Phase 4 Rejuvesol
4 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
5 Use of Etonogestrel-releasing Contraceptive Implant in Women With Sickle Cell Disease Completed NCT02594462 Phase 4 etonogestrel-releasing implant contraceptive
6 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)
7 Future of Spermatogenesis in Men With Sickle Cell Disease Medically Treated. Completed NCT01609192 Phase 4 Hydrea® (hydroxyurea )
8 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
9 Does IV Acetaminophen Reduce Opioid Requirement in Pediatric Emergency Department Patients With Acute Sickle Cell Crises? Completed NCT03541980 Phase 4 Acetaminophen;Normal saline
10 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)
11 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
12 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
13 Pilot Pharmacokinetic Study In Patients With Inadequate Response To Deferasirox (Exjade) Completed NCT00749515 Phase 4 Deferoxamine;Deferasirox
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 Low Dose Ketamine for Acute Pain Crisis in Patients With Sickle Cell Disease Recruiting NCT04330183 Phase 4 Ketamine;Normal Saline
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 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
21 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
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 Early Low-dose Ketamine Infusion Versus Usual Care for Sickle Cell Pain Crisis: a Randomized, Prospective Study. Not yet recruiting NCT04005209 Phase 4 Ketamine
25 A Pilot Study on the Effects of Intravenous Ketamine on Acute Pain Crisis in Patients With Sickle Cell Disease Terminated NCT00252122 Phase 4 Ketamine
26 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
27 Ketorolac Versus Ibuprofen for the Painful Crisis of Sickle Cell Disease - Southwestern Comprehensive Sickle Cell Center Terminated NCT00115336 Phase 4 Intravenous Ketorolac;Ibuprofen
28 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
29 Non-Invasive Assessment of Opioid Analgesia in Children With Sickle Cell Disease Withdrawn NCT00513864 Phase 4 Dextromethorphan;Codeine;Morphine
30 Endothelial Function in Patients With Sickle Cell Anemia Before and After Sildenafil Withdrawn NCT00937144 Phase 4 Viagra (Sildenafil);placebo
31 Transfusion Alternatives Pre-Operatively in Sickle Cell Disease Unknown status NCT00512577 Phase 3
32 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
33 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
34 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
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 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
37 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
38 A Randomized, Controlled, Double-blind Clinical Trial of L-arginine as Adjuvant Therapy for Sickle Cell Disease Completed NCT01142219 Phase 3 L-arginine;Placebo
39 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
40 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
41 Hypnosis as a Pain and Symptom Management Strategy in Patients With Sickle Cell Disease Completed NCT00393250 Phase 3
42 Penicillin Prophylaxis in Sickle Cell Disease (PROPS) Completed NCT00000585 Phase 3 penicillin
43 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
44 Intravenous Magnesium for Sickle Cell Vasoocclusive Crisis Completed NCT01197417 Phase 2, Phase 3 Intravenous Magnesium Sulfate;Normal Saline Placebo
45 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
46 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
47 N-Acetylcysteine in Patients With Sickle Cell Disease - Reducing the Incidence of Daily Life Pain Completed NCT01849016 Phase 3 N-Acetylcysteine;Placebo
48 Evaluation of the Lung Capillary Blood Volume in Children With Sickle Cell Disease Completed NCT00560261 Phase 3
49 Vitamin D Intervention in Children With Sickle Cell Disease: A Pilot Randomized Controlled Trial Completed NCT03417947 Phase 3
50 Ameliorating Attention Problems in Children With SCD Completed NCT01411280 Phase 3 methylphenidate

Search NIH Clinical Center for Sickle Cell Disease

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


Sodium phenylbutyrate

Genetic Tests for Sickle Cell Disease

Anatomical Context for Sickle Cell Disease

MalaCards organs/tissues related to Sickle Cell Disease:

40
Bone Marrow, Endothelial, Bone, Spleen, Placenta, Neutrophil, T Cells

Publications for Sickle Cell Disease

Articles related to Sickle Cell Disease:

(show top 50) (show all 15303)
# Title Authors PMID Year
1
Mortality in sickle cell disease. Life expectancy and risk factors for early death. 25 6 61
7993409 1994
2
The Prevalence of Sickle Cell Disease and Its Implication for Newborn Screening in Germany (Hamburg Metropolitan Area). 6 61
26275168 2016
3
Prevalence of sickle cell disease in a pediatric population suffering from severe infections: a Congolese experience. 6 61
25023084 2014
4
Prevalence of the β(S) gene among scheduled castes, scheduled tribes and other backward class groups in Central India. 6 61
25023085 2014
5
Elderly survivors with homozygous sickle cell disease. 61 6
17287491 2007
6
Lactate dehydrogenase as a biomarker of hemolysis-associated nitric oxide resistance, priapism, leg ulceration, pulmonary hypertension, and death in patients with sickle cell disease. 25 54 61
16291595 2006
7
Primary role for adherent leukocytes in sickle cell vascular occlusion: a new paradigm. 6 61
11880644 2002
8
Arginine supplementation of sickle transgenic mice reduces red cell density and Gardos channel activity. 61 6
11830454 2002
9
Antenatal diagnosis of sickle-cell anaemia by D.N.A. analysis of amniotic-fluid cells. 6 61
81926 1978
10
CRISPR-Cas9 Gene Editing for Sickle Cell Disease and β-Thalassemia. 25 61
33283989 2021
11
Promising Strategies for Sickle Cell Disease and β-Thalassemia. 42 61
33433564 2021
12
Sickle cell disease. 25 61
28159390 2017
13
How we manage iron overload in sickle cell patients. 25 61
28295188 2017
14
Gene Therapy for β-Hemoglobinopathies. 25 61
28377044 2017
15
Interventions for preventing silent cerebral infarcts in people with sickle cell disease. 61 25
28500860 2017
16
Intravascular hemolysis and the pathophysiology of sickle cell disease. 61 25
28248201 2017
17
Gene Therapy in a Patient with Sickle Cell Disease. 25 61
28249145 2017
18
Crizanlizumab for the Prevention of Pain Crises in Sickle Cell Disease. 25 61
27959701 2017
19
Prophylactic versus selective blood transfusion for sickle cell disease in pregnancy. 25 61
28005272 2016
20
Sickle cell disease: when and how to transfuse. 25 61
27913538 2016
21
New developments in anti-sickling agents: can drugs directly prevent the polymerization of sickle haemoglobin in vivo? 61 25
27605087 2016
22
The potential of gene therapy approaches for the treatment of hemoglobinopathies: achievements and challenges. 61 25
27695619 2016
23
Haematopoietic stem cell transplantation for sickle cell disease - current practice and new approaches. 61 25
27255787 2016
24
Fetal haemoglobin in sickle-cell disease: from genetic epidemiology to new therapeutic strategies. 25 61
27353686 2016
25
New insights into sickle cell disease: mechanisms and investigational therapies. 25 61
27055046 2016
26
Alternative donor allogeneic hematopoietic cell transplantation for hemoglobinopathies. 25 61
27000737 2016
27
Indications and Results of HLA-Identical Sibling Hematopoietic Cell Transplantation for Sickle Cell Disease. 25 61
26500093 2016
28
Neutrophils, platelets, and inflammatory pathways at the nexus of sickle cell disease pathophysiology. 61 25
26758915 2016
29
Central nervous system complications and management in sickle cell disease. 25 61
26758917 2016
30
2015 Clinical trials update in sickle cell anemia. 61 25
26178236 2015
31
The LSD1 inhibitor RN-1 induces fetal hemoglobin synthesis and reduces disease pathology in sickle cell mice. 61 25
26031919 2015
32
Update of hematopoietic cell transplantation for sickle cell disease. 61 25
25767957 2015
33
Pregnancy in patients with sickle cell disease: maternal and perinatal outcomes. 61 25
24866352 2015
34
Phytomedicines (medicines derived from plants) for sickle cell disease. 61 25
25844571 2015
35
Variation in pediatric emergency department care of sickle cell disease and fever. 61 25
25779022 2015
36
Elevated tricuspid regurgitant velocity as a marker for pulmonary hypertension in children with sickle cell disease: less prevalent and predictive than previously thought? 25 61
24942020 2015
37
Immunologic effects of hydroxyurea in sickle cell anemia. 25 61
25180279 2014
38
Management of sickle cell disease: summary of the 2014 evidence-based report by expert panel members. 61 25
25203083 2014
39
The ethics of a proposed study of hematopoietic stem cell transplant for children with "less severe" sickle cell disease. 61 25
24963044 2014
40
Sickle cell disease and pregnancy outcomes: population-based study on 8.8 million births. 25 61
24344096 2014
41
Pulmonary hypertension of sickle cell disease beyond classification constraints. 61 25
24794120 2014
42
Evidence-based focused review of the status of hematopoietic stem cell transplantation as treatment of sickle cell disease and thalassemia. 61 25
24511087 2014
43
Red blood cell alloimmunization in sickle cell disease and in thalassaemia: current status, future perspectives and potential role of molecular typing. 61 25
24117723 2014
44
Targeted fetal hemoglobin induction for treatment of beta hemoglobinopathies. 61 25
24589264 2014
45
Management of sickle cell disease in the community. 61 25
24613806 2014
46
Hydroxyurea is associated with lower costs of care of young children with sickle cell anemia. 61 25
23999955 2013
47
The natural history of sickle cell disease. 25 61
23813607 2013
48
A randomized, placebo-controlled trial of arginine therapy for the treatment of children with sickle cell disease hospitalized with vaso-occlusive pain episodes. 61 25
23645695 2013
49
Stroke in patients with sickle cell disease. 25 61
23782084 2013
50
Bacteremia risk and outpatient management of febrile patients with sickle cell disease. 25 61
23669523 2013

Variations for Sickle Cell Disease

ClinVar genetic disease variations for Sickle Cell Disease:

6 (show top 50) (show all 67)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LOC106099062 , HBB , LOC107133510 NM_000518.5(HBB):c.112del (p.Trp38fs) Deletion Pathogenic 15431 rs63750532 GRCh37: 11:5248010-5248010
GRCh38: 11:5226780-5226780
2 LOC106099062 , HBB , LOC107133510 NM_000518.5(HBB):c.75T>A (p.Gly25=) SNV Pathogenic 15459 rs33951465 GRCh37: 11:5248177-5248177
GRCh38: 11:5226947-5226947
3 LOC106099062 , HBB , LOC107133510 NM_000518.5(HBB):c.47G>A (p.Trp16Ter) SNV Pathogenic 15403 rs63750783 GRCh37: 11:5248205-5248205
GRCh38: 11:5226975-5226975
4 LOC106099062 , HBB , LOC107133510 NM_000518.5(HBB):c.25_26del (p.Lys9fs) Deletion Pathogenic 15413 rs35497102 GRCh37: 11:5248226-5248227
GRCh38: 11:5226996-5226997
5 LOC106099062 , HBB , LOC107133510 NM_000518.5(HBB):c.20del (p.Glu7fs) Deletion Pathogenic 15418 rs63749819 GRCh37: 11:5248232-5248232
GRCh38: 11:5227002-5227002
6 LOC106099062 , HBB , LOC107133510 NM_000518.5(HBB):c.2T>G (p.Met1Arg) SNV Pathogenic 15434 rs33941849 GRCh37: 11:5248250-5248250
GRCh38: 11:5227020-5227020
7 HBB , LOC106099062 , LOC107133510 NM_000518.5(HBB):c.-78A>G SNV Pathogenic 15471 rs33931746 GRCh37: 11:5248329-5248329
GRCh38: 11:5227099-5227099
8 HBB , LOC106099062 , LOC107133510 NM_000518.5(HBB):c.-106G>C SNV Pathogenic 36281 rs63750681 GRCh37: 11:5248357-5248357
GRCh38: 11:5227127-5227127
9 HBB , LOC106099062 , LOC107133510 NM_000518.5(HBB):c.-137C>T SNV Pathogenic 36287 rs33941377 GRCh37: 11:5248388-5248388
GRCh38: 11:5227158-5227158
10 LOC110006319 , HBB , LOC107133510 NM_000518.5(HBB):c.*110T>C SNV Pathogenic 36332 rs33978907 GRCh37: 11:5246718-5246718
GRCh38: 11:5225488-5225488
11 LOC110006319 , HBB , LOC107133510 NM_000518.5(HBB):c.316-2A>G SNV Pathogenic 21191 rs33914668 GRCh37: 11:5246958-5246958
GRCh38: 11:5225728-5225728
12 LOC110006319 , HBB , LOC107133510 NM_000518.5(HBB):c.316-7C>A SNV Pathogenic 551906 rs34483965 GRCh37: 11:5246963-5246963
GRCh38: 11:5225733-5225733
13 LOC110006319 , HBB , LOC107133510 NM_000518.5(HBB):c.316-197C>T SNV Pathogenic 15458 rs34451549 GRCh37: 11:5247153-5247153
GRCh38: 11:5225923-5225923
14 LOC106099062 , HBB , LOC107133510 NM_000518.5(HBB):c.20A>T (p.Glu7Val) SNV Pathogenic 15333 rs334 GRCh37: 11:5248232-5248232
GRCh38: 11:5227002-5227002
15 LOC110006319 , HBB , LOC107133510 NM_000518.4(HBB):c.364G>C (p.Glu122Gln) SNV Pathogenic 15152 rs33946267 GRCh37: 11:5246908-5246908
GRCh38: 11:5225678-5225678
16 LOC106099062 , HBB , LOC107133510 NM_000518.4(HBB):c.19G>A (p.Glu7Lys) SNV Pathogenic 15126 rs33930165 GRCh37: 11:5248233-5248233
GRCh38: 11:5227003-5227003
17 LOC106099062 , HBB , LOC107133510 NM_000518.5(HBB):c.79G>A (p.Glu27Lys) SNV Pathogenic 15161 rs33950507 GRCh37: 11:5248173-5248173
GRCh38: 11:5226943-5226943
18 LOC110006319 , HBB , LOC107133510 NM_000518.5(HBB):c.316-106C>G SNV Pathogenic 15457 rs34690599 GRCh37: 11:5247062-5247062
GRCh38: 11:5225832-5225832
19 LOC106099062 , LOC110006319 , HBB , LOC107133510 NM_000518.5(HBB):c.315+1G>A SNV Pathogenic 15438 rs33945777 GRCh37: 11:5247806-5247806
GRCh38: 11:5226576-5226576
20 LOC106099062 , HBB , LOC107133510 NM_000518.5(HBB):c.118C>T (p.Gln40Ter) SNV Pathogenic 15402 rs11549407 GRCh37: 11:5248004-5248004
GRCh38: 11:5226774-5226774
21 LOC106099062 , HBB , LOC107133510 NM_000518.5(HBB):c.93-21G>A SNV Pathogenic 15454 rs35004220 GRCh37: 11:5248050-5248050
GRCh38: 11:5226820-5226820
22 LOC106099062 , HBB , LOC107133510 NM_000518.5(HBB):c.92+6T>C SNV Pathogenic 15450 rs35724775 GRCh37: 11:5248154-5248154
GRCh38: 11:5226924-5226924
23 LOC106099062 , HBB , LOC107133510 NM_000518.5(HBB):c.92+5G>C SNV Pathogenic 15447 rs33915217 GRCh37: 11:5248155-5248155
GRCh38: 11:5226925-5226925
24 LOC106099062 , HBB , LOC107133510 NM_000518.5(HBB):c.92+1G>A SNV Pathogenic 15436 rs33971440 GRCh37: 11:5248159-5248159
GRCh38: 11:5226929-5226929
25 LOC106099062 , HBB , LOC107133510 NM_000518.5(HBB):c.52A>T (p.Lys18Ter) SNV Pathogenic 15401 rs33986703 GRCh37: 11:5248200-5248200
GRCh38: 11:5226970-5226970
26 HBB , LOC106099062 , LOC107133510 NM_000518.5(HBB):c.-79A>G SNV Pathogenic 15469 rs34598529 GRCh37: 11:5248330-5248330
GRCh38: 11:5227100-5227100
27 HBB , LOC106099062 , LOC107133510 NM_000518.5(HBB):c.-137C>A SNV Pathogenic 36285 rs33941377 GRCh37: 11:5248388-5248388
GRCh38: 11:5227158-5227158
28 LOC106099062 , HBB , LOC107133510 NM_000518.5(HBB):c.93-21G>A SNV Pathogenic 15454 rs35004220 GRCh37: 11:5248050-5248050
GRCh38: 11:5226820-5226820
29 LOC106099062 , HBB , LOC107133510 NM_000518.5(HBB):c.92+5G>C SNV Pathogenic 15447 rs33915217 GRCh37: 11:5248155-5248155
GRCh38: 11:5226925-5226925
30 LOC106099062 , HBB , LOC107133510 NM_000518.5(HBB):c.92+1G>T SNV Pathogenic 15437 rs33971440 GRCh37: 11:5248159-5248159
GRCh38: 11:5226929-5226929
31 LOC106099062 , HBB , LOC107133510 NM_000518.5(HBB):c.92+1G>A SNV Pathogenic 15436 rs33971440 GRCh37: 11:5248159-5248159
GRCh38: 11:5226929-5226929
32 LOC106099062 , HBB , LOC107133510 NM_000518.4(HBB):c.92G>C (p.Arg31Thr) SNV Pathogenic 15234 rs33960103 GRCh37: 11:5248160-5248160
GRCh38: 11:5226930-5226930
33 LOC106099062 , HBB , LOC107133510 NM_000518.5(HBB):c.85dup (p.Leu29fs) Duplication Pathogenic 15432 rs35532010 GRCh37: 11:5248166-5248167
GRCh38: 11:5226936-5226937
34 LOC106099062 , HBB , LOC107133510 NM_000518.5(HBB):c.82G>T (p.Ala28Ser) SNV Pathogenic 15239 rs35424040 GRCh37: 11:5248170-5248170
GRCh38: 11:5226940-5226940
35 LOC106099062 , HBB , LOC107133510 NM_000518.5(HBB):c.52A>T (p.Lys18Ter) SNV Pathogenic 15401 rs33986703 GRCh37: 11:5248200-5248200
GRCh38: 11:5226970-5226970
36 LOC106099062 , HBB , LOC107133510 NM_000518.4(HBB):c.27dupG (p.Ser10Valfs*14) Duplication Pathogenic 36308 rs35699606 GRCh37: 11:5248224-5248225
GRCh38: 11:5226994-5226995
37 LOC106099062 , HBB , LOC107133510 NM_000518.5(HBB):c.17_18del (p.Pro6fs) Deletion Pathogenic 15422 rs34889882 GRCh37: 11:5248234-5248235
GRCh38: 11:5227004-5227005
38 HBB , LOC106099062 , LOC107133510 NM_000518.5(HBB):c.-78A>C SNV Pathogenic 15470 rs33931746 GRCh37: 11:5248329-5248329
GRCh38: 11:5227099-5227099
39 LOC110006319 , HBB , LOC107133510 NM_000518.4(HBB):c.410G>A (p.Gly137Asp) SNV Pathogenic 15202 rs33949486 GRCh37: 11:5246862-5246862
GRCh38: 11:5225632-5225632
40 LOC110006319 , HBB , LOC107133510 NM_000518.5(HBB):c.364G>T (p.Glu122Ter) SNV Pathogenic 15404 rs33946267 GRCh37: 11:5246908-5246908
GRCh38: 11:5225678-5225678
41 LOC110006319 , HBB , LOC107133510 NM_000518.4(HBB):c.332T>C (p.Leu111Pro) SNV Pathogenic 15352 rs35256489 GRCh37: 11:5246940-5246940
GRCh38: 11:5225710-5225710
42 LOC110006319 , HBB , LOC107133510 NM_000518.5(HBB):c.316-106C>G SNV Pathogenic 15457 rs34690599 GRCh37: 11:5247062-5247062
GRCh38: 11:5225832-5225832
43 LOC106099062 , LOC110006319 , HBB , LOC107133510 NM_000518.5(HBB):c.315+1G>A SNV Pathogenic 15438 rs33945777 GRCh37: 11:5247806-5247806
GRCh38: 11:5226576-5226576
44 LOC106099062 , HBB , LOC107133510 NM_000518.5(HBB):c.130G>T (p.Glu44Ter) SNV Pathogenic 15406 rs33922842 GRCh37: 11:5247992-5247992
GRCh38: 11:5226762-5226762
45 LOC106099062 , HBB , LOC107133510 NM_000518.4(HBB):c.126_129delCTTT (p.Phe42fs) Deletion Pathogenic 15417 rs80356821 GRCh37: 11:5247993-5247996
GRCh38: 11:5226763-5226766
46 LOC106099062 , HBB , LOC107133510 NM_000518.5(HBB):c.118C>T (p.Gln40Ter) SNV Pathogenic 15402 rs11549407 GRCh37: 11:5248004-5248004
GRCh38: 11:5226774-5226774
47 LOC106099062 , HBB , LOC107133510 NM_000518.5(HBB):c.20A>T (p.Glu7Val) SNV Pathogenic 15333 rs334 GRCh37: 11:5248232-5248232
GRCh38: 11:5227002-5227002
48 LOC110006319 , HBB , LOC107133510 NM_000518.5(HBB):c.316-14T>G SNV Pathogenic 36313 rs35703285 GRCh37: 11:5246970-5246970
GRCh38: 11:5225740-5225740
49 LOC110006319 , HBB , LOC107133510 NM_000518.4(HBB):c.364G>A (p.Glu122Lys) SNV Pathogenic/Likely pathogenic 15292 rs33946267 GRCh37: 11:5246908-5246908
GRCh38: 11:5225678-5225678
50 LOC110006319 , HBB , LOC107133510 NM_000518.5(HBB):c.389C>T (p.Ala130Val) SNV Likely pathogenic 15245 rs111645889 GRCh37: 11:5246883-5246883
GRCh38: 11:5225653-5225653

Expression for Sickle Cell Disease

Search GEO for disease gene expression data for Sickle Cell Disease.

Pathways for Sickle Cell Disease

Pathways related to Sickle Cell Disease according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 12.05 UGT1A1 HBG1 HBB G6PD
2 11.65 HBG2 HBG1 HBD HBB
3 10.7 VCAM1 HBB HBA2
4 10.62 VCAM1 SELP HBB HBA2

GO Terms for Sickle Cell Disease

Cellular components related to Sickle Cell Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 blood microparticle GO:0072562 9.46 HBG2 HBD HBB HBA2
2 hemoglobin complex GO:0005833 9.35 HBG2 HBG1 HBD HBB HBA2
3 endocytic vesicle lumen GO:0071682 9.26 HBB HBA2
4 haptoglobin-hemoglobin complex GO:0031838 9.02 HBG2 HBG1 HBD HBB HBA2

Biological processes related to Sickle Cell Disease according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 response to ethanol GO:0045471 9.65 VCAM1 UGT1A1 G6PD
2 blood coagulation GO:0007596 9.62 HBG2 HBG1 HBD HBB
3 response to lipopolysaccharide GO:0032496 9.56 VCAM1 UGT1A1 SELP EPO
4 cellular oxidant detoxification GO:0098869 9.55 HBG2 HBG1 HBD HBB HBA2
5 response to nutrient GO:0007584 9.54 VCAM1 UGT1A1 EPO
6 calcium-mediated signaling using intracellular calcium source GO:0035584 9.49 VCAM1 SELP
7 leukocyte tethering or rolling GO:0050901 9.46 VCAM1 SELP
8 cell volume homeostasis GO:0006884 9.43 SLC12A4 KCNN4
9 erythrocyte maturation GO:0043249 9.4 G6PD EPO
10 hydrogen peroxide catabolic process GO:0042744 9.35 HBG2 HBG1 HBD HBB HBA2
11 oxygen transport GO:0015671 9.02 HBG2 HBG1 HBD HBB HBA2

Molecular functions related to Sickle Cell Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 heme binding GO:0020037 9.8 HBG2 HBG1 HBD HBB HBA2
2 peroxidase activity GO:0004601 9.77 HBG2 HBG1 HBD HBB HBA2
3 oxygen binding GO:0019825 9.72 HBG2 HBG1 HBD HBB HBA2
4 hemoglobin alpha binding GO:0031721 9.56 HBG2 HBG1 HBD HBB
5 oxygen carrier activity GO:0005344 9.55 HBG2 HBG1 HBD HBB HBA2
6 organic acid binding GO:0043177 9.35 HBG2 HBG1 HBD HBB HBA2
7 haptoglobin binding GO:0031720 9.02 HBG2 HBG1 HBD HBB HBA2

Sources for Sickle Cell Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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