SKCA
MCID: SCK003
MIFTS: 74

Sickle Cell Anemia (SKCA)

Categories: Blood diseases, Bone diseases, Endocrine diseases, Genetic diseases, Immune diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Sickle Cell Anemia

MalaCards integrated aliases for Sickle Cell Anemia:

Name: Sickle Cell Anemia 57 12 75 75 53 59 74 37 13 15 38 63
Hemoglobin Sc Disease 12 75 53 44 17 72
Anemia, Sickle Cell 44 40 72
Sickle Cell-Hemoglobin C Disease Syndrome 53 59
Sickle Cell Disease 59 74
Hbsc Disease 53 59
Sickle-Cell/hb-C Disease Without Crisis 12
Sickling Disorder Due to Hemoglobin S 53
Hemoglobin S Disease Without Crisis 12
Sickle Cell - Hemoglobin C Disease 53
Sickle Cell-Hemoglobin C Disease 29
Hb-Ss Disease Without Crisis 12
Hemoglobin S Disease 53
Hb-S/hb-C Disease 12
Sickle Cell Trait 72
Drepanocytosis 12
Hb Sc Disease 12
Hbs Disease 53
Skca 74

Characteristics:

Orphanet epidemiological data:

59
sickle cell anemia
Inheritance: Autosomal recessive; Prevalence: 1-5/10000 (France),1-5/10000 (United States),1-5/10000 (Europe); Age of onset: All ages; Age of death: adult,early childhood,infantile;
sickle cell-hemoglobin c disease syndrome
Inheritance: Autosomal recessive; Age of onset: All ages;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
persistence of fetal hemoglobin can ameliorate many disease aspects
presence of comorbid alpha-thalassemia may have beneficial effects


HPO:

32
sickle cell anemia:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:10923
OMIM 57 603903
KEGG 37 H00229
SNOMED-CT 68 35434009 80046004
MESH via Orphanet 45 D000755
ICD10 via Orphanet 34 D57.0 D57.1 D57.2
UMLS via Orphanet 73 C0002895 C0019034
MedGen 42 C0002895
UMLS 72 C0002895 C0019034 C0037054

Summaries for Sickle Cell Anemia

NIH Rare Diseases : 53 Hemoglobin SC disease, is a type of sickle cell disease, which means it affects the shape of the red blood cells. Red blood cells contain a protein called hemoglobin, which is responsible for carrying blood throughout the body. People with hemoglobin SC disease have red blood cells that are differently shaped and therefore do not carry oxygen as effectively. Symptoms of hemoglobin SC disease include anemia and episodes of fatigue and extreme pain (vaso-occlusive crisis). The severity of the symptoms can vary from person to person. Hemoglobin SC disease is caused by mutations in the gene that tells our bodies how to make hemoglobin. These mutations cause changes in the shape of the red blood cells. People affected by hemoglobin SC disease need to be especially careful to avoid infection and should be checked regularly by doctors to make sure all of the organs in the body are functioning properly. In times when the anemia becomes severe, a person affected by hemoglobin SC disease may require a blood transfusion. A bone marrow transplant may also be recommended depending on the severity of the symptoms.

MalaCards based summary : Sickle Cell Anemia, also known as hemoglobin sc disease, is related to acute chest syndrome and deficiency anemia, and has symptoms including angina pectoris, abdominal pain and edema. An important gene associated with Sickle Cell Anemia is HBB (Hemoglobin Subunit Beta), and among its related pathways/superpathways are Glucose / Energy Metabolism and Selenium Micronutrient Network. The drugs Artesunate and Peginterferon alfa-2a have been mentioned in the context of this disorder. Affiliated tissues include Blood, bone and bone marrow, and related phenotypes are chronic hemolytic anemia and recurrent infections

Disease Ontology : 12 A blood protein disease that is characterized by low number of red blood cells, repeated infections, and periodic episodes of pain, resulting from atypical hemoglobin molecules called hemoglobin S, which can distort red blood cells into a sickle, or crescent, shape.

OMIM : 57 Sickle cell anemia is a multisystem disease associated with episodes of acute illness and progressive organ damage. Hemoglobin polymerization, leading to erythrocyte rigidity and vasoocclusion, is central to the pathophysiology of the disease, but the importance of chronic anemia, hemolysis, and vasculopathy has been established. The most common cause of sickle cell anemia is the HbS variant (141900.0243), with hemoglobin SS disease being most prevalent in Africans (review by Rees et al., 2010). See review of infection in sickle cell disease by Booth et al. (2010). Piel et al. (2017) reviewed the genetic and nongenetic modifiers of the severity of sickle cell disease. (603903)

KEGG : 37
Sickle cell anaemia (SCA) is a recessive genetic disease caused by a single-point mutation in the beta globin gene in codon 6 (Glu6Val) that specifies one of the chains of haemoglobin. The disease is characterized by a chronic haemolytic anaemia with the sickle cells which show abnormal morphology due to the damage of the membrane skeletons and agglutinate under deoxygenated conditions.

UniProtKB/Swiss-Prot : 74 Sickle cell anemia: Characterized by abnormally shaped red cells resulting in chronic anemia and periodic episodes of pain, serious infections and damage to vital organs. Normal red blood cells are round and flexible and flow easily through blood vessels, but in sickle cell anemia, the abnormal hemoglobin (called Hb S) causes red blood cells to become stiff. They are C-shaped and resembles a sickle. These stiffer red blood cells can led to microvascular occlusion thus cutting off the blood supply to nearby tissues.

PubMed Health : 63 About sickle cell anemia: Sickle cell anemia (uh-NEE-me-uh) is the most common form of sickle cell disease (SCD). SCD is a serious disorder in which the body makes sickle-shaped red blood cells. “Sickle-shaped” means that the red blood cells are shaped like a crescent. Normal red blood cells are disc-shaped and look like doughnuts without holes in the center. They move easily through your blood vessels. Red blood cells contain an iron-rich protein called hemoglobin (HEE-muh-glow-bin). This protein carries oxygen from the lungs to the rest of the body. Sickle cells contain abnormal hemoglobin called sickle hemoglobin or hemoglobin S. Sickle hemoglobin causes the cells to develop a sickle, or crescent, shape. Sickle cells are stiff and sticky. They tend to block blood flow in the blood vessels of the limbs and organs. Blocked blood flow can cause pain and organ damage. It can also raise the risk for infection.

Wikipedia : 75 Sickle cell disease (SCD) is a group of blood disorders typically inherited from a person's parents. The... more...

Related Diseases for Sickle Cell Anemia

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

(show top 50) (show all 961)
# Related Disease Score Top Affiliating Genes
1 acute chest syndrome 33.2 VCAM1 HBB CD40LG
2 deficiency anemia 32.7 HBG2 HBB HBA2 G6PD EPO
3 hemoglobin c disease 31.4 MTHFR HBB
4 cholelithiasis 30.9 UGT1A6 UGT1A1 HBB
5 plasmodium falciparum malaria 30.9 TNF HBB G6PD
6 glucosephosphate dehydrogenase deficiency 30.8 UGT1A1 HBG2 HBB G6PD
7 fetal hemoglobin quantitative trait locus 1 30.8 HBG2 HBG1 HBB
8 cerebrovascular disease 30.7 VCAM1 TNF MTHFR F2
9 erythroleukemia, familial 30.6 HBG1 HBB EPO
10 hemoglobinopathy 30.5 UGT1A1 HBG1 HBB HBA2 HBA1 EPO
11 spinal cord infarction 30.4 MTHFR F2
12 hemoglobin e disease 30.4 HBS1L HBB F2
13 hereditary spherocytosis 30.4 UGT1A1 HBG1 HBB G6PD
14 vasculitis 30.3 VCAM1 TNF CD40LG
15 sudden sensorineural hearing loss 30.3 MTHFR F2
16 vascular disease 30.3 VCAM1 TNF MTHFR F2
17 endocarditis 30.3 VCAM1 TNF F2
18 hemolytic anemia 30.3 HBG2 HBB HBA2 HBA1 G6PD EPO
19 microcytic anemia 30.1 HBA2 HBA1 EPO
20 thalassemia 30.1 UGT1A1 HBS1L HBG1 HBB HBA2 HBA1
21 hereditary persistence of fetal hemoglobin-sickle cell disease syndrome 30.0 HBG2 HBG1 HBB BCL11A
22 eclampsia 30.0 TNF MTHFR F2
23 neonatal anemia 29.9 HBG1 HBA2 EPO
24 intracranial hypertension 29.9 TNF MTHFR F2
25 sickle cell disease 29.9 VCAM1 HBS1L HBG2 HBG1 HBB HBA2
26 retinal vascular disease 29.8 MTHFR HBA2 HBA1
27 congenital hemolytic anemia 29.7 HBG1 HBB HBA2 G6PD EPO
28 rheumatic disease 29.7 VCAM1 TNF CD40LG
29 schistosomiasis 29.7 TNF F2 CD40LG
30 cerebral palsy 29.7 TNF MTHFR F2
31 bilirubin metabolic disorder 29.6 UGT1A6 UGT1A1 G6PD F2
32 hepatitis e 29.6 TNF F2 CD40LG
33 inherited metabolic disorder 29.5 UGT1A6 UGT1A1 MTHFR
34 antiphospholipid syndrome 29.3 VCAM1 MTHFR F2 CD40LG
35 gilbert syndrome 29.3 UGT1A8 UGT1A6 UGT1A1 G6PD
36 hemoglobin h disease 29.2 HBG2 HBB HBA2 HBA1 G6PD EPO
37 alpha-thalassemia 29.2 VCAM1 UGT1A1 HBG2 HBG1 HBB HBA2
38 bilirubin, serum level of, quantitative trait locus 1 29.2 UGT1A8 UGT1A6 UGT1A1
39 crigler-najjar syndrome, type ii 29.1 UGT1A8 UGT1A6 UGT1A1
40 beta-thalassemia 28.9 UGT1A1 HBS1L HBG2 HBG1 HBB HBA2
41 malaria 28.8 VCAM1 TNF HBB HBA2 HBA1 G6PD
42 sickle cell disease associated with an other hemoglobin anomaly 12.4
43 sickle cell disease and related diseases 12.3
44 hpa i recognition polymorphism, beta-globin-related 11.7
45 bone marrow necrosis 11.6
46 focal segmental glomerulosclerosis 11.6
47 distal renal tubular acidosis 11.6
48 endosteal hyperostosis, autosomal dominant 11.5
49 fetal hemoglobin quantitative trait locus 5 11.5
50 roberts syndrome 11.5

Comorbidity relations with Sickle Cell Anemia via Phenotypic Disease Network (PDN):


Acute Cystitis Deficiency Anemia
Hypertension, Essential Iron Deficiency Anemia

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



Diseases related to Sickle Cell Anemia

Symptoms & Phenotypes for Sickle Cell Anemia

Human phenotypes related to Sickle Cell Anemia:

59 32 (show all 40)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 chronic hemolytic anemia 59 32 obligate (100%) Obligate (100%) HP:0004870
2 recurrent infections 59 32 hallmark (90%) Very frequent (99-80%) HP:0002719
3 osteoporosis 59 32 frequent (33%) Frequent (79-30%) HP:0000939
4 osteomyelitis 59 32 frequent (33%) Frequent (79-30%) HP:0002754
5 chest pain 59 32 frequent (33%) Frequent (79-30%) HP:0100749
6 abnormality of the spleen 59 32 frequent (33%) Frequent (79-30%) HP:0001743
7 iron deficiency anemia 59 32 frequent (33%) Frequent (79-30%) HP:0001891
8 thrombocytosis 59 32 frequent (33%) Frequent (79-30%) HP:0001894
9 reticulocytosis 59 32 frequent (33%) Frequent (79-30%) HP:0001923
10 leukocytosis 59 32 frequent (33%) Frequent (79-30%) HP:0001974
11 pigment gallstones 59 32 frequent (33%) Frequent (79-30%) HP:0011981
12 avascular necrosis 32 frequent (33%) HP:0010885
13 abnormality of the nervous system 59 32 occasional (7.5%) Occasional (29-5%) HP:0000707
14 cholestasis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001396
15 elevated serum creatinine 59 32 occasional (7.5%) Occasional (29-5%) HP:0003259
16 unconjugated hyperbilirubinemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0008282
17 persistence of hemoglobin f 59 32 occasional (7.5%) Occasional (29-5%) HP:0011904
18 hypoxemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0012418
19 increased lactate dehydrogenase activity 59 32 occasional (7.5%) Occasional (29-5%) HP:0025435
20 microcytic anemia 59 32 very rare (1%) Very rare (<4-1%) HP:0001935
21 increased mean corpuscular volume 59 32 very rare (1%) Very rare (<4-1%) HP:0005518
22 hemolytic anemia 59 32 Very frequent (99-80%) HP:0001878
23 hypertension 32 HP:0000822
24 splenomegaly 32 HP:0001744
25 hepatomegaly 32 HP:0002240
26 aseptic necrosis 59 Frequent (79-30%)
27 renal insufficiency 32 HP:0000083
28 retinopathy 32 HP:0000488
29 cardiomegaly 32 HP:0001640
30 abdominal pain 32 HP:0002027
31 hematuria 32 HP:0000790
32 cholelithiasis 32 HP:0001081
33 jaundice 32 HP:0000952
34 pain 59 Very frequent (99-80%)
35 abnormality of the vasculature 59 Occasional (29-5%)
36 hypochromic anemia 59 Very rare (<4-1%)
37 stroke 32 HP:0001297
38 recurrent bacterial infections 32 HP:0002718
39 priapism 32 HP:0200023
40 increased red cell sickling tendency 32 HP:0008346

Symptoms via clinical synopsis from OMIM:

57
Abdomen:
abdominal pain

Neurologic Central Nervous System:
stroke
pain, secondary to vasoocclusion

Cardiovascular Vascular:
pulmonary hypertension
vasculopathy
microcirculatory occlusion
hyperemia

Abdomen Spleen:
functional asplenia

Skeletal Limbs:
avascular joint necrosis
joint and leg pain

Hematology:
leukocytosis
hypoxemia
hemolysis
sickle cell anemia
anemia, chronic

Genitourinary External Genitalia Male:
priapism

Genitourinary Kidneys:
renal failure

Respiratory Lung:
acute chest syndrome

Immunology:
increased susceptibility to bacterial infections
resistance to falciparum malaria infection

Clinical features from OMIM:

603903

UMLS symptoms related to Sickle Cell Anemia:


angina pectoris, abdominal pain, edema, chest pain

Drugs & Therapeutics for Sickle Cell Anemia

PubMed Health treatment related to Sickle Cell Anemia: 63

Sickle cell anemia has no widely available cure. However, treatments can help relieve symptoms and treat complications. The goals of treating sickle cell anemia are to relieve pain; prevent infections, organ damage, and strokes; and control complications (if they occur). Blood and marrow stem cell transplants may offer a cure for a small number of people who have sickle cell anemia. Researchers continue to look for new treatments for the disease. Infants who have been diagnosed with sickle cell anemia through newborn screening are treated with antibiotics to prevent infections and receive needed vaccinations. Their parents are educated about the disease and how to manage it. These initial treatment steps have greatly improved the outcome for children who have sickle cell anemia.

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

(show top 50) (show all 421)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Artesunate Approved, Investigational Phase 4 88495-63-0 5464098 6917864
2
Peginterferon alfa-2a Approved, Investigational Phase 4 198153-51-4 5360545
3
Ribavirin Approved Phase 4 36791-04-5 37542
4
Peginterferon alfa-2b Approved Phase 4 99210-65-8, 215647-85-1
5
Atorvastatin Approved Phase 4 134523-00-5 60823
6
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4 437-38-7 3345
7
Riociguat Approved Phase 4 625115-55-1
8
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
9
Remifentanil Approved Phase 4 132875-61-7 60815
10
Acetaminophen Approved Phase 4 103-90-2 1983
11
Proguanil Approved Phase 4 500-92-5 4923
12
Sulfadoxine Approved, Investigational Phase 4 2447-57-6 17134
13
Pyrimethamine Approved, Investigational, Vet_approved Phase 4 58-14-0 4993
14
Ketamine Approved, Vet_approved Phase 4 6740-88-1 3821
15
Amodiaquine Approved, Investigational Phase 4 86-42-0 2165
16
Desogestrel Approved Phase 4 54024-22-5 40973
17
Etonogestrel Approved, Investigational Phase 4 54048-10-1 6917715 40976
18
Tocopherol Approved, Investigational Phase 4 1406-66-2, 54-28-4 14986
19
Deferiprone Approved Phase 4 30652-11-0 2972
20
Ketorolac Approved Phase 4 74103-06-3, 66635-83-4 3826
21
Ibuprofen Approved Phase 4 15687-27-1 3672
22
Vitamin E Approved, Nutraceutical, Vet_approved Phase 4 59-02-9 14985
23
Calcium Approved, Nutraceutical Phase 4 7440-70-2 271
24
Vitamin D3 Approved, Nutraceutical Phase 4 67-97-0 6221 5280795
25
Ergocalciferol Approved, Nutraceutical Phase 4 50-14-6 5280793
26
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
27
Calcifediol Approved, Nutraceutical Phase 4 19356-17-3 6433735 5283731
28
Dihydroartemisinin Experimental, Investigational Phase 4 71939-50-9 6918483
29
Piperaquine Experimental, Investigational Phase 4 4085-31-8 5079497
30 Tocotrienol Investigational Phase 4 6829-55-6
31 Anthelmintics Phase 4
32 Amodiaquine, artesunate drug combination Phase 4
33 Interferon alpha-2 Phase 4
34 Interferon-alpha Phase 4
35 interferons Phase 4
36 Antimetabolites Phase 4
37 Anticonvulsants Phase 4
38 Anti-Arrhythmia Agents Phase 4
39 calcium channel blockers Phase 4
40 Lipid Regulating Agents Phase 4
41 Hypolipidemic Agents Phase 4
42 Sodium Channel Blockers Phase 4
43 Diuretics, Potassium Sparing Phase 4
44 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4
45 Anticholesteremic Agents Phase 4
46 Anesthetics, Local Phase 4
47 Performance-Enhancing Substances Phase 4
48 Anesthetics Phase 4
49 Anesthetics, General Phase 4
50 Anesthetics, Intravenous Phase 4

Interventional clinical trials:

(show top 50) (show all 804)
# 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 A Randomized, Double Blind Trial on the Efficacy and Safety of Amodiaquine-Artesunate and Amodiaquine Alone in the Treatment of Children With Uncomplicated Falciparum Malaria Unknown status NCT00238017 Phase 4 amodiaquine-artesunate versus amodiaquine
3 Phase IV Study of Effectiveness of Interferon and Ribavirin Treatment in Thalassemia Major Patients With Chronic Viral Hepatitis C Unknown status NCT00887081 Phase 4 PEG-IFN alpha2a or PEG-IFN alpha2b and Ribavirin
4 Future of Spermatogenesis in Men With Sickle Cell Disease Medically Treated. Completed NCT01609192 Phase 4 Hydrea® (hydroxyurea )
5 Evaluation of the Impact of Renal Function on the Pharmacokinetics of Hydroxyurea (SIKLOS ®) in Normal-renal Function, Hyperfiltrating and Renal Failure Sickle Cell Disease Patients (DARH) Completed NCT02522104 Phase 4 Siklos
6 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
7 Rejuvesol® Washed RBC in Sickle Cell Patients Requiring Frequent Transfusions Completed NCT02731157 Phase 4 Rejuvesol
8 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)
9 Intranasal Fentanyl Versus Intravenous Morphine in the Emergency Department Treatment of Severe Painful Sickle Cell Crises in Children Completed NCT03682211 Phase 4 Fentanyl Citrate;Morphine sulphate
10 Pilot Pharmacokinetic Study In Patients With Inadequate Response To Deferasirox (Exjade) Completed NCT00749515 Phase 4 Deferoxamine;Deferasirox
11 Low-dose Ketamine Versus Morphine for Severe Painful Sickle Cell Crises in Children at Mulago Hospital: A Randomised Controlled Trial Completed NCT02434939 Phase 4 Low dose ketamine;Morphine
12 Effect of Intravenous Infusion of Lidocaine, Magnesium Sulphate and Remifentanil Perioperatively in Patients Undergoing Mastectomy: a Prospective, Randomized and Double-blind Study Completed NCT02309879 Phase 4 Remifentanil infusion;Lidocaine infusion;Magnesium sulphate infusion;Magnesium sulphate and Lidocaine infusion
13 A Randomised Controlled Trial of Atorvastatin as an Anti-Inflammatory Agent in Non-Cystic Fibrosis Bronchiectasis Completed NCT01299181 Phase 4 Atorvastatin
14 A Randomised Controlled Trial of Atorvastatin as an Anti-Inflammatory Agent in Non-Cystic Fibrosis Bronchiectasis in Patients With Pseudomonas Aeruginosa Completed NCT01299194 Phase 4 ATORVASTATIN
15 The Effect of Riociguat on Gas Exchange, Exercise Performance, and Pulmonary Artery Pressure During Acute Altitude Exposure Completed NCT02024386 Phase 4 Riociguat
16 Does IV Acetaminophen Reduce Opioid Requirement in Pediatric Emergency Department Patients With Acute Sickle Cell Crises? Recruiting NCT03541980 Phase 4 Acetaminophen;Normal saline
17 Enhancing Preventive Therapy of Malaria In Children With Sickle Cell Anemia in East Africa (EPiTOMISE) Recruiting NCT03178643 Phase 4 Proguanil Oral Tablet;Sulfadoxine/Pyrimethanine-Amodiaquine (SP-AQ);Dihydroartemisinin-Piperaquine (DP)
18 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
19 Comparison of Nebulized Sub-dissociative Dose Ketamine at Three Different Dosing Regimens for Treating Acute Pain in the Pediatric ED: A Prospective, Randomized Double-Blind Trial Recruiting NCT03950817 Phase 4 Nebulized Sub-dissociative Dose Ketamine at either 0.75 mg/kg;Nebulized Sub-dissociative Dose Ketamine at 1 mg/kg;Nebulized Sub-dissociative Dose Ketamine at 1.5 mg/kg.
20 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
21 Use of Etonogestrel-releasing Contraceptive Implant in Women With Sickle Cell Disease Active, not recruiting NCT02594462 Phase 4 etonogestrel-releasing implant contraceptive
22 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
23 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
24 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
25 Early Low-dose Ketamine Infusion Versus Usual Care for Sickle Cell Pain Crisis: a Randomized, Prospective Study. Not yet recruiting NCT04005209 Phase 4 Ketamine
26 Ketorolac Versus Ibuprofen for the Painful Crisis of Sickle Cell Disease - Southwestern Comprehensive Sickle Cell Center Terminated NCT00115336 Phase 4 Intravenous Ketorolac;Ibuprofen
27 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
28 A Pilot Study on the Effects of Intravenous Ketamine on Acute Pain Crisis in Patients With Sickle Cell Disease Terminated NCT00252122 Phase 4 Ketamine
29 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
30 Endothelial Function in Patients With Sickle Cell Anemia Before and After Sildenafil Withdrawn NCT00937144 Phase 4 Viagra (Sildenafil);placebo
31 Non-Invasive Assessment of Opioid Analgesia in Children With Sickle Cell Disease Withdrawn NCT00513864 Phase 4 Dextromethorphan;Codeine;Morphine
32 A Randomized, Controlled Trial of Autologous Platelet Gel Treatment in Diabetic Foot Ulcers Withdrawn NCT00338702 Phase 4
33 Transfusion Alternatives Pre-Operatively in Sickle Cell Disease Unknown status NCT00512577 Phase 3
34 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
35 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
36 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
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 Phase III Randomized Study of Poloxamer 188 for Vaso-Occlusive Crisis of Sickle Cell Disease Completed NCT00004408 Phase 3 poloxamer 188
39 MAST - Magnesium for Sickle Cell Acute Crisis in Children Completed NCT00313963 Phase 3 Magnesium Sulfate;Normal Saline
40 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
41 N-Acetylcysteine in Patients With Sickle Cell Disease - Reducing the Incidence of Daily Life Pain Completed NCT01849016 Phase 3 N-Acetylcysteine;Placebo
42 Penicillin Prophylaxis in Sickle Cell Disease (PROPS) Completed NCT00000585 Phase 3 penicillin
43 Pediatric Hydroxyurea Phase III Clinical Trial (BABY HUG) Completed NCT00006400 Phase 3 Hydroxyurea;Placebo
44 Leukapheresis of Volunteers With Sickle Cell Trait to Evaluate Mobilization of Stem Cells With Granulocyte Colony-Stimulating Factor and Stem Cell Collection and Storage for Allogeneic Transplantation Completed NCT00005782 Phase 3 Granulocyte colony-stimulating factor
45 Stroke Prevention in Sickle Cell Anemia (STOP 1) Completed NCT00000592 Phase 3
46 Stroke Prevention in Sickle Cell Anemia (STOP 2) Completed NCT00006182 Phase 3
47 Multicenter Study of Hydroxyurea in Patients With Sickle Cell Anemia (MSH) Completed NCT00000586 Phase 3 hydroxyurea
48 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
49 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
50 Randomized Trial of High-dose Intravenous Methylprednisolone and Steroid Taper for Vaso-occlusive Crises in Sickle Cell Disease Completed NCT00263562 Phase 3 Methylprednisolone plus prednisone taper

Search NIH Clinical Center for Sickle Cell Anemia

Inferred drug relations via UMLS 72 / NDF-RT 51 :


Sodium phenylbutyrate

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Sickle Cell Anemia cell therapies at LifeMap Discovery.

Cochrane evidence based reviews: hemoglobin sc disease

Genetic Tests for Sickle Cell Anemia

Genetic tests related to Sickle Cell Anemia:

# Genetic test Affiliating Genes
1 Sickle Cell-Hemoglobin C Disease 29

Anatomical Context for Sickle Cell Anemia

MalaCards organs/tissues related to Sickle Cell Anemia:

41
Bone, Bone Marrow, Endothelial, Testes, Liver, Kidney, T Cells
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Sickle Cell Anemia:
# Tissue Anatomical CompartmentCell Relevance
1 Blood Peripheral Blood Erythrocytes Affected by disease

Publications for Sickle Cell Anemia

Articles related to Sickle Cell Anemia:

(show top 50) (show all 5923)
# Title Authors PMID Year
1
Management of sickle cell disease: summary of the 2014 evidence-based report by expert panel members. 38 8 71
25203083 2014
2
Mortality in sickle cell disease. Life expectancy and risk factors for early death. 38 8 71
7993409 1994
3
Elderly survivors with homozygous sickle cell disease. 8 71
17287491 2007
4
Relatively benign sickle-cell anaemia in 60 patients aged over 30 in the West Indies. 8 71
4232783 1968
5
Hydroxyurea for Children with Sickle Cell Anemia in Sub-Saharan Africa. 38 8
30501550 2019
6
A Phase 3 Trial of l-Glutamine in Sickle Cell Disease. 38 8
30021096 2018
7
Fine-mapping at three loci known to affect fetal hemoglobin levels explains additional genetic variation. 38 8
21057501 2010
8
Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia. 38 8
18245381 2008
9
Treatment of sickle cell anemia mouse model with iPS cells generated from autologous skin. 38 8
18063756 2007
10
Genetic dissection and prognostic modeling of overt stroke in sickle cell anemia. 38 8
15778708 2005
11
Impaired vasodilation by red blood cells in sickle cell disease. 38 8
15699345 2005
12
Arginine supplementation of sickle transgenic mice reduces red cell density and Gardos channel activity. 38 71
11830454 2002
13
Molecular analysis of the beta-globin gene cluster in the Niokholo Mandenka population reveals a recent origin of the beta(S) Senegal mutation. 38 71
11741197 2002
14
Monoclonal antibodies to alphaVbeta3 (7E3 and LM609) inhibit sickle red blood cell-endothelium interactions induced by platelet-activating factor. 38 8
10627437 2000
15
First unaffected pregnancy using preimplantation genetic diagnosis for sickle cell anemia. 38 8
10328069 1999
16
Transgenic knockout mice exclusively expressing human hemoglobin S after transfer of a 240-kb betas-globin yeast artificial chromosome: A mouse model of sickle cell anemia. 38 8
9843985 1998
17
Ribozyme-mediated repair of sickle beta-globin mRNAs in erythrocyte precursors. 38 8
9616120 1998
18
Hydroxyurea and sickle cell anemia. Clinical utility of a myelosuppressive "switching" agent. The Multicenter Study of Hydroxyurea in Sickle Cell Anemia. 38 8
8982148 1996
19
Sickle cell anemia in septuagenarians. 38 8
7579371 1995
20
Effect of hydroxyurea on the frequency of painful crises in sickle cell anemia. Investigators of the Multicenter Study of Hydroxyurea in Sickle Cell Anemia. 38 8
7715639 1995
21
Fatal pneumococcal septicemia in hemoglobin SC disease. 38 8
8201467 1994
22
Sequence of the -530 region of the beta-globin gene of sickle cell anemia patients with the Arabian haplotype. 38 71
8199597 1994
23
Augmentation by erythropoietin of the fetal-hemoglobin response to hydroxyurea in sickle cell disease. 38 8
7677965 1993
24
A short-term trial of butyrate to stimulate fetal-globin-gene expression in the beta-globin disorders. 38 8
7677966 1993
25
Herrick's 1910 case report of sickle cell anemia. The rest of the story. 38 8
2642320 1989
26
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. 38 71
2898142 1988
27
Beta S gene in Sicily is in linkage disequilibrium with the Benin haplotype: implications for gene flow. 38 71
2893541 1988
28
Rapid prenatal diagnosis of sickle cell anemia by a new method of DNA analysis. 38 71
3821796 1987
29
Hydroxyurea induction of hemoglobin F production in sickle cell disease: relationship between cytotoxicity and F cell production. 38 8
2418898 1986
30
Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia. 38 8
2999980 1985
31
Developmental pattern of splenic dysfunction in sickle cell disorders. 38 8
2412200 1985
32
Hematologically and genetically distinct forms of sickle cell anemia in Africa. The Senegal type and the Benin type. 38 71
2579336 1985
33
Evidence for the multicentric origin of the sickle cell hemoglobin gene in Africa. 38 71
6584911 1984
34
Treatment of sickle cell anemia with 5-azacytidine results in increased fetal hemoglobin production and is associated with nonrandom hypomethylation of DNA around the gamma-delta-beta-globin gene complex. 38 8
6192443 1983
35
Clinical, hematological, and biochemical features of Hb SC disease. 38 8
7137165 1982
36
Use of restriction endonucleases for mapping the allele for beta s-globin. 38 71
6285354 1982
37
Direct identification of sickle cell anemia by blot hybridization. 38 71
6272289 1981
38
Sickle cell anemia a molecular disease. 38 71
15395398 1949
39
Sickle Cell Disease. 8
28423290 2017
40
EMQN Best Practice Guidelines for molecular and haematology methods for carrier identification and prenatal diagnosis of the haemoglobinopathies. 71
25052315 2015
41
Guidelines for the primary prevention of stroke: a statement for healthcare professionals from the American Heart Association/American Stroke Association. 71
25355838 2014
42
Sickle cell disease incidence among newborns in New York State by maternal race/ethnicity and nativity. 8
23018751 2013
43
An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals. 8
22975760 2013
44
Hemoglobins S and C interfere with actin remodeling in Plasmodium falciparum-infected erythrocytes. 71
22075726 2011
45
Correction of sickle cell disease in adult mice by interference with fetal hemoglobin silencing. 8
21998251 2011
46
Sickle hemoglobin confers tolerance to Plasmodium infection. 71
21529713 2011
47
Sickle-cell disease. 8
21131035 2010
48
The inherited diseases of hemoglobin are an emerging global health burden. 8
20233970 2010
49
Genetic variation in human HBB is associated with Plasmodium falciparum transmission. 71
20305663 2010
50
Infection in sickle cell disease: a review. 8
19497774 2010

Variations for Sickle Cell Anemia

ClinVar genetic disease variations for Sickle Cell Anemia:

6 (show all 20)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 HBB NM_000518.5(HBB): c.79G> A (p.Glu27Lys) single nucleotide variant Pathogenic rs33950507 11:5248173-5248173 11:5226943-5226943
2 HBB NM_000518.5(HBB): c.20A> T (p.Glu7Val) single nucleotide variant Pathogenic rs334 11:5248232-5248232 11:5227002-5227002
3 HBB NM_000518.5(HBB): c.52A> T (p.Lys18Ter) single nucleotide variant Pathogenic rs33986703 11:5248200-5248200 11:5226970-5226970
4 HBB NM_000518.5(HBB): c.118C> T (p.Gln40Ter) single nucleotide variant Pathogenic rs11549407 11:5248004-5248004 11:5226774-5226774
5 HBB NM_000518.5(HBB): c.92+1G> A single nucleotide variant Pathogenic rs33971440 11:5248159-5248159 11:5226929-5226929
6 HBB NM_000518.5(HBB): c.315+1G> A single nucleotide variant Pathogenic rs33945777 11:5247806-5247806 11:5226576-5226576
7 HBB NM_000518.5(HBB): c.92+5G> C single nucleotide variant Pathogenic rs33915217 11:5248155-5248155 11:5226925-5226925
8 HBB NM_000518.5(HBB): c.92+6T> C single nucleotide variant Pathogenic rs35724775 11:5248154-5248154 11:5226924-5226924
9 HBB NM_000518.5(HBB): c.93-21G> A single nucleotide variant Pathogenic rs35004220 11:5248050-5248050 11:5226820-5226820
10 HBB NM_000518.5(HBB): c.316-106C> G single nucleotide variant Pathogenic rs34690599 11:5247062-5247062 11:5225832-5225832
11 HBB NM_000518.5(HBB): c.-79A> G single nucleotide variant Pathogenic rs34598529 11:5248330-5248330 11:5227100-5227100
12 HBB NM_000518.4(HBB): c.364G> A (p.Glu122Lys) single nucleotide variant Pathogenic rs33946267 11:5246908-5246908 11:5225678-5225678
13 HBB NM_000518.4(HBB): c.19G> A (p.Glu7Lys) single nucleotide variant Pathogenic rs33930165 11:5248233-5248233 11:5227003-5227003
14 HBB NM_000518.5(HBB): c.-138C> A single nucleotide variant Pathogenic/Likely pathogenic rs33944208 11:5248389-5248389 11:5227159-5227159
15 HBB NM_000518.5(HBB): c.-137C> A single nucleotide variant Pathogenic/Likely pathogenic rs33941377 11:5248388-5248388 11:5227158-5227158
16 HBB NM_000518.4(HBB): c.208G> A (p.Gly70Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs33947415 11:5247914-5247914 11:5226684-5226684
17 HBB NM_000518.4(HBB): c.364G> C (p.Glu122Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs33946267 11:5246908-5246908 11:5225678-5225678
18 HBB NM_000518.5(HBB): c.*56A> T single nucleotide variant Uncertain significance rs537944366 11:5246772-5246772 11:5225542-5225542
19 HBB NM_000518.5(HBB): c.*53C> A single nucleotide variant Uncertain significance rs886048393 11:5246775-5246775 11:5225545-5225545
20 HBB NM_000518.5(HBB): c.9T> C (p.His3=) single nucleotide variant Benign rs713040 11:5248243-5248243 11:5227013-5227013

UniProtKB/Swiss-Prot genetic disease variations for Sickle Cell Anemia:

74
# Symbol AA change Variation ID SNP ID
1 HBB p.Glu7Val VAR_002863 rs334

Expression for Sickle Cell Anemia

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

Pathways for Sickle Cell Anemia

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

(show all 13)
# Super pathways Score Top Affiliating Genes
1 12.19 UGT1A8 UGT1A6 UGT1A1 MTHFR HBG1 HBB
2
Show member pathways
11.99 TNF MTHFR HBB HBA1 F2
3
Show member pathways
11.7 HBB HBA2 HBA1
4 11.68 VCAM1 TNF CD40LG
5
Show member pathways
11.55 UGT1A8 UGT1A6 UGT1A1
6
Show member pathways
11.45 UGT1A8 UGT1A6 UGT1A1
7
Show member pathways
11.41 VCAM1 TNF CD40LG
8 11.26 UGT1A6 UGT1A1 TNF
9
Show member pathways
11.09 HBB HBA2 HBA1
10
Show member pathways
11.03 UGT1A8 UGT1A6 UGT1A1
11 10.92 VCAM1 TNF HBB HBA2 HBA1
12 10.79 VCAM1 TNF HBB HBA2 HBA1 CD40LG
13 10.73 VCAM1 TNF

GO Terms for Sickle Cell Anemia

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

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.92 VCAM1 TNF HBB HBA2 HBA1 F2
2 external side of plasma membrane GO:0009897 9.67 VCAM1 TNF F2 CD40LG
3 blood microparticle GO:0072562 9.55 HBG2 HBB HBA2 HBA1 F2
4 endocytic vesicle lumen GO:0071682 9.43 HBB HBA2 HBA1
5 hemoglobin complex GO:0005833 9.35 HBG2 HBG1 HBB HBA2 HBA1
6 haptoglobin-hemoglobin complex GO:0031838 9.02 HBG2 HBG1 HBB HBA2 HBA1

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

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 blood coagulation GO:0007596 9.84 HBG2 HBG1 HBB F2
2 response to ethanol GO:0045471 9.77 VCAM1 UGT1A1 G6PD
3 response to nutrient GO:0007584 9.73 VCAM1 UGT1A1 EPO
4 response to hydrogen peroxide GO:0042542 9.69 HBB HBA2 HBA1
5 positive regulation of cell death GO:0010942 9.65 HBB HBA2 HBA1
6 cellular oxidant detoxification GO:0098869 9.65 HBG2 HBG1 HBB HBA2 HBA1
7 bicarbonate transport GO:0015701 9.63 HBB HBA2 HBA1
8 acute-phase response GO:0006953 9.61 UGT1A1 F2 EPO
9 leukocyte tethering or rolling GO:0050901 9.6 VCAM1 TNF
10 retinoic acid metabolic process GO:0042573 9.58 UGT1A8 UGT1A1
11 cellular glucuronidation GO:0052695 9.58 UGT1A6 UGT1A1
12 erythrocyte maturation GO:0043249 9.57 G6PD EPO
13 response to salt stress GO:0009651 9.55 TNF EPO
14 xenobiotic glucuronidation GO:0052697 9.54 UGT1A8 UGT1A6 UGT1A1
15 flavone metabolic process GO:0051552 9.52 UGT1A8 UGT1A1
16 flavonoid glucuronidation GO:0052696 9.5 UGT1A8 UGT1A6 UGT1A1
17 regulation of immunoglobulin secretion GO:0051023 9.49 TNF CD40LG
18 negative regulation of steroid metabolic process GO:0045939 9.4 UGT1A8 UGT1A1
19 hydrogen peroxide catabolic process GO:0042744 9.35 HBG2 HBG1 HBB HBA2 HBA1
20 protein heterooligomerization GO:0051291 9.33 HBB HBA2 HBA1
21 oxygen transport GO:0015671 9.02 HBG2 HBG1 HBB HBA2 HBA1

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

# Name GO ID Score Top Affiliating Genes
1 heme binding GO:0020037 9.77 HBG2 HBG1 HBB HBA2 HBA1
2 oxygen binding GO:0019825 9.72 HBG2 HBG1 HBB HBA2 HBA1
3 transferase activity, transferring hexosyl groups GO:0016758 9.65 UGT1A8 UGT1A6 UGT1A1
4 peroxidase activity GO:0004601 9.65 HBG2 HBG1 HBB HBA2 HBA1
5 glucuronosyltransferase activity GO:0015020 9.63 UGT1A8 UGT1A6 UGT1A1
6 retinoic acid binding GO:0001972 9.61 UGT1A8 UGT1A6 UGT1A1
7 UDP-glycosyltransferase activity GO:0008194 9.58 UGT1A8 UGT1A6 UGT1A1
8 oxygen carrier activity GO:0005344 9.55 HBG2 HBG1 HBB HBA2 HBA1
9 organic acid binding GO:0043177 9.35 HBG2 HBG1 HBB HBA2 HBA1
10 haptoglobin binding GO:0031720 9.02 HBG2 HBG1 HBB HBA2 HBA1

Sources for Sickle Cell Anemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....