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MCID: SCK003
MIFTS: 72

Sickle Cell Anemia

Categories: Genetic diseases, Rare diseases, Immune diseases, Blood diseases, Neuronal diseases, Nephrological diseases, Reproductive diseases, Bone diseases, Endocrine diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
Sources

Aliases & Classifications for Sickle Cell Anemia

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MalaCards integrated aliases for Sickle Cell Anemia:

Name: Sickle Cell Anemia 57 38 12 76 76 53 59 75 37 13 15 63
Hemoglobin Sc Disease 12 76 53 44 73
Anemia, Sickle Cell 44 40 73
Sickle Cell-Hemoglobin C Disease Syndrome 53 59
Sickle Cell Disease 59 75
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 73
Drepanocytosis 12
Hb Sc Disease 12
Hemoglobin S 6
Hbs Disease 53
Skca 75

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:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Immune diseases Blood diseases Neuronal diseases Nephrological diseases Reproductive diseases Bone diseases Endocrine diseases
See all MalaCards categories (disease lists)
ICD10: 33 34
Orphanet: 59  
Rare neurological diseases
Rare renal diseases
Rare infertility disorders
Rare gynaecological and obstetric diseases
Rare systemic and rhumatological diseases
Rare bone diseases
Rare endocrine diseases
Rare haematological diseases


Sources

Summaries for Sickle Cell Anemia

About this section
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 abdominal pain, angina pectoris and chest pain. An important gene associated with Sickle Cell Anemia is HBB (Hemoglobin Subunit Beta), and among its related pathways/superpathways are Glucose / Energy Metabolism and Folate Metabolism. The drugs Peginterferon alfa-2a and Peginterferon alfa-2b have been mentioned in the context of this disorder. Affiliated tissues include Blood, bone and bone marrow, and related phenotypes are aseptic necrosis and osteoporosis

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)

UniProtKB/Swiss-Prot : 75 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 : 76 Sickle cell disease (SCD) is a group of blood disorders typically inherited from a person\'s parents.... more...

Sources

Related Diseases for Sickle Cell Anemia

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

(show top 50) (show all 221)
# Related Disease Score Top Affiliating Genes
1 acute chest syndrome 33.0 CD40LG HBB VCAM1
2 deficiency anemia 31.9 EPO HBA2 HBB HBG2
3 hemoglobin c disease 31.1 HBB MTHFR
4 glucosephosphate dehydrogenase deficiency 30.6 HBB HBG2 UGT1A1
5 cholelithiasis 30.6 HBB UGT1A1 UGT1A6
6 splenic infarction 30.5 F2 HBB
7 fetal hemoglobin quantitative trait locus 1 30.4 HBB HBG1 HBG2
8 spinal cord infarction 30.3 F2 MTHFR
9 cerebrovascular disease 30.1 F2 MTHFR TNF VCAM1
10 hereditary spherocytosis 30.1 HBB HBG1 UGT1A1
11 endocarditis 30.0 F2 TNF VCAM1
12 arteries, anomalies of 29.9 F2 MTHFR TNF VCAM1
13 cholangitis 29.7 CD40LG F2 TNF
14 thalassemia 29.0 BCL11A EPO HBA1 HBA2 HBB HBG1
15 hemoglobinopathy 28.8 EPO HBA1 HBA2 HBB HBG1 UGT1A1
16 alpha-thalassemia 28.5 EPO HBA1 HBA2 HBB HBG1 HBG2
17 beta-thalassemia 28.1 BCL11A EPO HBA1 HBA2 HBB HBG1
18 sickle cell disease 27.8 BCL11A EPO HBA2 HBB HBG1 HBG2
19 malaria 26.8 ACKR1 CD40LG EPO HBA1 HBA2 HBB
20 bone marrow necrosis 11.4
21 roberts syndrome 11.2
22 hpa i recognition polymorphism, beta-globin-related 11.1
23 hemoglobin se disease 11.1
24 fetal hemoglobin quantitative trait locus 2 11.0
25 focal segmental glomerulosclerosis 11.0
26 renal tubular acidosis, distal 11.0
27 acute erythroid leukemia 10.6 EPO HBB HBG1
28 hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome 10.6 HBB HBG1 HBG2
29 trench fever 10.6 CD40LG TNF
30 marburg hemorrhagic fever 10.5 F2 TNF
31 encephalitozoonosis 10.5 CD40LG TNF
32 rheumatoid lung disease 10.5 CD40LG TNF
33 hemoglobin zurich 10.5 HBA2 HBB
34 miller fisher syndrome 10.5 CD40LG TNF
35 mesenteric vascular occlusion 10.5 F2 MTHFR
36 cerebritis 10.4
37 iritis 10.4 CD40LG EPO
38 leukocyte disease 10.4 CD40LG TNF UGT1A1
39 sudden sensorineural hearing loss 10.4 F2 MTHFR
40 hemoglobin e disease 10.4 F2 HBB HBS1L
41 legionellosis 10.4 CD40LG HBS1L TNF
42 alpha-thalassemia/mental retardation syndrome, chromosome 16-related 10.4 HBA1 HBA2
43 blood protein disease 10.4 F2 MTHFR
44 urinary system disease 10.4 CD40LG EPO TNF
45 hydrops fetalis, nonimmune 10.4 HBA1 HBA2
46 diabetes mellitus, insulin-dependent, 24 10.3 HBA1 HBA2
47 fournier gangrene 10.3 CD40LG F2
48 takayasu arteritis 10.3 CD40LG TNF VCAM1
49 hemangioma of liver 10.3 F2 HBA1
50 hereditary persistence of fetal hemoglobin-sickle cell disease syndrome 10.3 BCL11A HBB HBG1 HBG2

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
Sources

Symptoms & Phenotypes for Sickle Cell Anemia

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Symptoms via clinical synopsis from OMIM:

57
Abdomen:
abdominal pain

Neurologic Central Nervous System:
stroke
pain, secondary to vasoocclusion

Genitourinary Kidneys:
renal failure

AbdomenSpleen:
functional asplenia

Skeletal Limbs:
avascular joint necrosis
joint and leg pain

Hematology:
leukocytosis
hypoxemia
hemolysis
sickle cell anemia
anemia, chronic

Cardiovascular Vascular:
pulmonary hypertension
vasculopathy
microcirculatory occlusion
hyperemia

Genitourinary External Genitalia Male:
priapism

Respiratory Lung:
acute chest syndrome

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


Clinical features from OMIM:

603903

Human phenotypes related to Sickle Cell Anemia:

59 32 (show all 38)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 aseptic necrosis 59 32 frequent (33%) Frequent (79-30%) HP:0010885
2 osteoporosis 59 32 frequent (33%) Frequent (79-30%) HP:0000939
3 hemolytic anemia 59 32 Very frequent (99-80%) HP:0001878
4 microcytic anemia 59 32 very rare (1%) Very rare (<4-1%) HP:0001935
5 chronic hemolytic anemia 59 32 obligate (100%) Obligate (100%) HP:0004870
6 recurrent infections 59 32 hallmark (90%) Very frequent (99-80%) HP:0002719
7 abnormality of the spleen 59 32 frequent (33%) Frequent (79-30%) HP:0001743
8 iron deficiency anemia 59 32 frequent (33%) Frequent (79-30%) HP:0001891
9 thrombocytosis 59 32 frequent (33%) Frequent (79-30%) HP:0001894
10 reticulocytosis 59 32 frequent (33%) Frequent (79-30%) HP:0001923
11 leukocytosis 59 32 frequent (33%) Frequent (79-30%) HP:0001974
12 osteomyelitis 59 32 frequent (33%) Frequent (79-30%) HP:0002754
13 pigment gallstones 59 32 frequent (33%) Frequent (79-30%) HP:0011981
14 chest pain 59 32 frequent (33%) Frequent (79-30%) HP:0100749
15 abnormality of the nervous system 59 32 occasional (7.5%) Occasional (29-5%) HP:0000707
16 cholestasis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001396
17 abnormality of the vasculature 59 32 occasional (7.5%) Occasional (29-5%) HP:0002597
18 elevated serum creatinine 59 32 occasional (7.5%) Occasional (29-5%) HP:0003259
19 unconjugated hyperbilirubinemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0008282
20 persistence of hemoglobin f 59 32 occasional (7.5%) Occasional (29-5%) HP:0011904
21 hypoxemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0012418
22 abnormal lactate dehydrogenase activity 59 32 occasional (7.5%) Occasional (29-5%) HP:0045040
23 increased mean corpuscular volume 59 32 very rare (1%) Very rare (<4-1%) HP:0005518
24 splenomegaly 32 HP:0001744
25 hepatomegaly 32 HP:0002240
26 renal insufficiency 32 HP:0000083
27 retinopathy 32 HP:0000488
28 cardiomegaly 32 HP:0001640
29 abdominal pain 32 HP:0002027
30 cholelithiasis 32 HP:0001081
31 jaundice 32 HP:0000952
32 hematuria 32 HP:0000790
33 pain 59 Very frequent (99-80%)
34 hypochromic anemia 59 Very rare (<4-1%)
35 stroke 32 HP:0001297
36 recurrent bacterial infections 32 HP:0002718
37 priapism 32 HP:0200023
38 increased red cell sickling tendency 32 HP:0008346

UMLS symptoms related to Sickle Cell Anemia:


abdominal pain, angina pectoris, chest pain, edema
Sources

Drugs & Therapeutics for Sickle Cell Anemia

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PubMedHealth 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 388)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Peginterferon alfa-2a Approved, Investigational Phase 4 198153-51-4 5360545
2
Peginterferon alfa-2b Approved Phase 4 99210-65-8, 215647-85-1
3
Ribavirin Approved Phase 4 36791-04-5 37542
4
Morphine Approved, Investigational Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable 57-27-2 5288826
5
Hydroxyurea Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 127-07-1 3657
6
Deferasirox Approved, Investigational Phase 4,Phase 2,Phase 3 201530-41-8 5493381
7
Deferoxamine Approved, Investigational Phase 4,Phase 2,Phase 3 70-51-9 2973
8
Iron Approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 7439-89-6 23925
9
Proguanil Approved Phase 4,Phase 1,Phase 2,Not Applicable 500-92-5 4923
10
Deferiprone Approved Phase 4,Phase 2,Phase 3,Phase 1 30652-11-0 2972
11
Ketamine Approved, Vet_approved Phase 4,Phase 3,Phase 2,Not Applicable 6740-88-1 3821
12
Guaifenesin Approved, Investigational, Vet_approved Phase 4,Phase 1,Phase 2,Not Applicable 93-14-1 3516
13
Hydromorphone Approved, Illicit Phase 4,Phase 3,Phase 2 466-99-9 5284570
14
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4,Phase 2 437-38-7 3345
15
Amodiaquine Approved, Investigational Phase 4,Phase 1,Phase 2 86-42-0 2165
16
Pyrimethamine Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 1,Phase 2 58-14-0 4993
17
Sulfadoxine Approved, Investigational Phase 4,Phase 3,Phase 1,Phase 2 2447-57-6 17134
18
Codeine Approved, Illicit Phase 4,Phase 1,Phase 2 76-57-3 5284371
19
Dihydroartemisinin Approved, Investigational Phase 4 71939-50-9 6918483
20
Piperaquine Approved, Investigational Phase 4 4085-31-8 5079497
21
Ibuprofen Approved Phase 4,Phase 2,Not Applicable 15687-27-1 3672
22
Desogestrel Approved Phase 4 54024-22-5 40973
23
Etonogestrel Approved, Investigational Phase 4 54048-10-1 40976 6917715
24
Heroin Approved, Illicit, Investigational Phase 4 561-27-3 5462328
25
Ketorolac Approved Phase 4 74103-06-3, 66635-83-4 3826
26
Ergocalciferol Approved, Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1 50-14-6 5280793
27
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 1406-16-2
28
Vitamin D3 Approved, Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1 67-97-0 6221 5280795
29
Citric Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 2,Phase 1,Not Applicable,Early Phase 1 77-92-9 311
30 Anti-Infective Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1
31 Antimetabolites Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
32 Antiviral Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
33 Interferon-alpha Phase 4
34 interferons Phase 4
35 Analgesics Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
36 Analgesics, Opioid Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
37 Central Nervous System Depressants Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
38 Narcotics Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
39 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
40 Nucleic Acid Synthesis Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
41 Anesthetics Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
42 Anesthetics, General Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
43 Anesthetics, Intravenous Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
44 Calcium, Dietary Phase 4,Phase 2,Phase 3,Phase 1
45 Chelating Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
46 Iron Chelating Agents Phase 4,Phase 2,Phase 3,Phase 1
47 Liver Extracts Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
48 Antimalarials Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
49 Antiparasitic Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
50 Antiprotozoal Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable

Interventional clinical trials:

(show top 50) (show all 642)
# Name Status NCT ID Phase Drugs
1 Interferon and Ribavirin Treatment in Patients With Hemoglobinopathies Unknown status NCT00887081 Phase 4 PEG-IFN alpha2a or PEG-IFN alpha2b and Ribavirin
2 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)
3 Future of Spermatogenesis in Men With Sickle Cell Disease Medically Treated Completed NCT01609192 Phase 4 Hydrea® (hydroxyurea )
4 Rejuvesol® Washed RBC in Sickle Cell Patients Requiring Frequent Transfusions Completed NCT02731157 Phase 4 Rejuvesol
5 Evaluation of the Impact of Renal Function on the Pharmacokinetics of SIKLOS ® (DARH) Completed NCT02522104 Phase 4 Siklos
6 Intranasal Fentanyl for Initial Treatment of a Vaso-occlusive Crisis Completed NCT01482091 Phase 4 Fentanyl Citrate;Normal Saline
7 Pilot Study for Patients With Poor Response to Deferasirox Completed NCT00749515 Phase 4 Deferoxamine;Deferasirox
8 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)
9 Efficacy and Safety of Ferriprox® in Patients With Sickle Cell Disease or Other Anemias Recruiting NCT02041299 Phase 4 Deferiprone;Deferoxamine
10 Contraception in Women With Sickle Cell Disease Active, not recruiting NCT02594462 Phase 4 etonogestrel-releasing implant contraceptive
11 Risk Clinical Stratification of Sickle Cell Disease in Nigeria, Assessment of Efficacy/Safety of Hydroxyurea Treatment Active, not recruiting NCT02149537 Phase 4 hydroxyurea
12 Long-term Safety and Efficacy of Ferriprox® in Iron Overloaded Patients With Sickle Cell Disease or Other Anemias Enrolling by invitation NCT02443545 Phase 4 Deferiprone
13 Mobile-Directly Observed Therapy on Adherence to Hydroxyurea Enrolling by invitation NCT02844673 Phase 4 Hydroxyurea
14 Does IV Acetaminophen Reduce Opioid Requirement in Pediatric Emergency Department Patients With Acute Sickle Cell Crises? Not yet recruiting NCT03541980 Phase 4 Acetaminophen;Normal saline
15 A Randomized Phase IV Control Trial of Single High Dose Oral Vitamin D3 in Pediatric Patients Undergoing HSCT Not yet recruiting NCT03176849 Phase 4
16 Ibuprofen and Opioid (Morphine or Diamorphine) for Acute Pain in Sickle Cell Disease - Sickle With Ibuprofen & Morphine Terminated NCT00880373 Phase 4 Ibuprofen;Placebo;Diamorphine or Morphine
17 Pilot Study on the Effects of Intravenous Ketamine on Acute Pain Crisis in Patients With Sickle Cell Disease Terminated NCT00252122 Phase 4 Ketamine
18 Ketorolac Versus Ibuprofen to Treat Painful Episodes of Sickle Cell Disease Terminated NCT00115336 Phase 4 Intravenous Ketorolac;Ibuprofen
19 Immunogenicity and Safety Study of Pneumococcal 7-Valent Conjugate Vaccine in Sickle Cell Disease Infants. Terminated NCT00368186 Phase 4
20 Endothelial Function in Patients With Sickle Cell Anemia Before and After Sildenafil Withdrawn NCT00937144 Phase 4 Viagra (Sildenafil);placebo
21 Assessment of Opioid Analgesia in Sickle Cell Withdrawn NCT00513864 Phase 4 Dextromethorphan;Codeine;Morphine
22 Transfusion Alternatives Pre-Operatively in Sickle Cell Disease (TAPS) Unknown status NCT00512577 Phase 3
23 Ketamine as an Adjuvant Therapy for Acute Vaso Occlusive Crisis in Pediatric Patients With Sickle Cell Disease Unknown status NCT02801292 Phase 3 Ketamine
24 Vascular Function Intervention Trial in Sickle Cell Disease Unknown status NCT01718054 Phase 2, Phase 3 Chloroquine
25 Study Of Efficacy,Safety of Combined Deferasirox and Deferiprone Versus Combined Deferiprone and Desferal In Conditions of Iron Overload Unknown status NCT01511848 Phase 2, Phase 3 DFP (ferriprox) and deferasirox (ICL 670);DFP, DFO
26 A Phase III Safety and Efficacy Study of L-Glutamine to Treat Sickle Cell Disease or Sickle βo-thalassemia Completed NCT01179217 Phase 3 L-glutamine;Placebo
27 Evaluation of the Lung Capillary Blood Volume in Children With Sickle Cell Disease Completed NCT00560261 Phase 3
28 Sulfadoxine- Pyrimethamine Versus Weekly Chloroquine for Malaria Prevention in Children With Sickle Cell Anemia Completed NCT00399074 Phase 3 sulfadoxine pyrimethamine
29 Evaluation of Purified Poloxamer 188 in Vaso-Occlusive Crisis of Sickle Cell Disease (EPIC) Completed NCT01737814 Phase 3 Saline;MST-188
30 L-Arginine and Sickle Cell Disease Completed NCT01142219 Phase 3 L-arginine;Placebo
31 N-Acetylcysteine in Patients With Sickle Cell Disease Completed NCT01849016 Phase 3 N-Acetylcysteine;Placebo
32 Hypnosis to Manage Pain and Symptoms in Patients With Sickle Cell Disease Completed NCT00393250 Phase 3
33 Multicenter Study of Hydroxyurea in Patients With Sickle Cell Anemia (MSH) Completed NCT00000586 Phase 3 hydroxyurea
34 Phase III Randomized Study of Poloxamer 188 for Vaso-Occlusive Crisis of Sickle Cell Disease Completed NCT00004408 Phase 3 poloxamer 188
35 Steroid Treatment for Sickle Cell Pain Crisis Completed NCT00263562 Phase 3 Methylprednisolone plus prednisone taper
36 Apixaban in Patients With Sickle Cell Disease Completed NCT02179177 Phase 3 Apixaban;Placebo
37 Hydroxyurea to Prevent Organ Damage in Children With Sickle Cell Anemia Completed NCT00006400 Phase 3 Hydroxyurea;Placebo
38 Evaluation of Repeat Administration of Purified Poloxamer 188 Completed NCT02449616 Phase 3 MST-188
39 Study Evaluating 13-valent Pneumococcal Conjugate Vaccine (13vPnC) in Children With Sickle Cell Disease Completed NCT00918580 Phase 3
40 Silent Cerebral Infarct Transfusion Multi-Center Clinical Trial Completed NCT00072761 Phase 3
41 Stroke Prevention in Sickle Cell Anemia (STOP 1) Completed NCT00000592 Phase 3
42 Ameliorating Attention Problems in Children With Sickle Cell Disease (SCD) Completed NCT01411280 Phase 3 methylphenidate
43 Novel Use Of Hydroxyurea in an African Region With Malaria Completed NCT01976416 Phase 3 Hydroxyurea;Placebo
44 Penicillin Prophylaxis in Sickle Cell Disease (PROPS) Completed NCT00000585 Phase 3 penicillin
45 Intravenous Magnesium for Sickle Cell Vasoocclusive Crisis Completed NCT01197417 Phase 2, Phase 3 Intravenous Magnesium Sulfate;Normal Saline Placebo
46 Stroke Prevention in Sickle Cell Anemia (STOP 2) Completed NCT00006182 Phase 3
47 Effect of Inhaled Nitric Oxide in Acute Chest Syndrome (INOSTA Study) Completed NCT00748423 Phase 2, Phase 3 Nitric Oxide;Placebo
48 Choosing Opioid Management for Pain and Analyzing Acute Chest Syndrome (ACS) Rates Equally Completed NCT01380197 Phase 3 Morphine;Nubain
49 Mobilization and Handling of Stem Cells for Transplant From Healthy Volunteers With Sickle Cell Trait Completed NCT00005782 Phase 3 Granulocyte colony-stimulating factor
50 MAST - Magnesium for Sickle Cell Acute Crisis in Children Completed NCT00313963 Phase 3 Magnesium Sulfate;Normal Saline

Search NIH Clinical Center for Sickle Cell Anemia

Inferred drug relations via UMLS 73 / NDF-RT 51 :


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.
Stem-cell-based therapeutic approaches for Sickle Cell Anemia:
Bone marrow-derived hematopoietic stem cells for treatment of sickle cell disease
Genetically modified induced pluripotent cells for treatment of sickle cell anemia
Hematopoietic stem cell transplantation for the treatment of genetic blood cell-related diseases
NiCord
Embryonic/Adult Cultured Cells Related to Sickle Cell Anemia:
Bone marrow-derived hematopoietic stem cells (family)
Hematopoietic progenitor cells
Umbilical cord blood-derived hematopoietic stem cells (family)
Umbilical cord blood-derived stem cells (NiCord) PMIDs: 22198152

Cochrane evidence based reviews: anemia, sickle cell

Sources

Genetic Tests for Sickle Cell Anemia

About this section

Genetic tests related to Sickle Cell Anemia:

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

Anatomical Context for Sickle Cell Anemia

About this section

MalaCards organs/tissues related to Sickle Cell Anemia:

41
Bone, Bone Marrow, Kidney, Lung, Endothelial, Liver, Heart
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
Sources

Publications for Sickle Cell Anemia

About this section

Articles related to Sickle Cell Anemia:

(show top 50) (show all 959)
# Title Authors Year
1
Posterior reversible encephalopathy syndrome secondary to asymptomatic poststreptococcal glomerulonephritis in a child with sickle cell anemia: a case report. ( 29386039 )
2018
2
Access to hematopoietic stem cell transplant for patients with sickle cell anemia. ( 29693782 )
2018
3
Sickle cell retinopathy and other chronic complications of sickle cell anemia: A clinical study of 84 Sub-Saharan African cases (Cameroon). ( 29295792 )
2018
4
Feasibility trial for primary stroke prevention in children with sickle cell anemia in Nigeria (SPIN trial). ( 29411418 )
2018
5
Pneumococcal vaccination coverage among children with sickle cell anemia, sickle cell trait, and normal hemoglobin. ( 29905397 )
2018
6
Lower Transcranial Doppler Flow Velocities in Sickle Cell Anemia Patients on Hydroxyurea: Myth or Fact. ( 29398806 )
2018
7
Executive performance on the preschool executive task assessment in children with sickle cell anemia and matched controls. ( 29954249 )
2018
8
Successful Use of Veno-Venous Extracorporeal Membrane Oxygenation in an Adult Patient with Sickle Cell Anemia and Severe Acute Chest Syndrome. ( 29633667 )
2018
9
Diastolic dysfunction is associated with exercise impairment in patients with sickle cell anemia. ( 29781568 )
2018
10
Coexistent sickle-cell anemia and autoimmune disease in eight children: pitfalls and challenges. ( 29343274 )
2018
11
Assessment of Executive Functions in Preschool Children With Sickle Cell Anemia. ( 29843828 )
2018
12
Association between Oxidative Stress, Genetic Factors, and Clinical Severity in Children with Sickle Cell Anemia. ( 29449005 )
2018
13
The clinical epidemiology of sickle cell anemia In Africa. ( 29168218 )
2018
14
White matter integrity and processing speed in sickle cell anemia. ( 29752305 )
2018
15
The first South American case of pre-implantation genetic diagnosis to select compatible embryo for cord blood transplantation as treatment for sickle cell anemia. ( 29345446 )
2018
16
Cognitive profile of children with sickle-cell anemia compared to healthy controls. ( 29957246 )
2018
17
Oxidative Stress in Diabetic Patients with Sickle-Cell Anemia: A Warning Call for Endemic Areas. ( 29744315 )
2018
18
Effects of living at moderate altitude on pulmonary vascular function and exercise capacity in mice with sickle cell anemia. ( 29931797 )
2018
19
Impact of zinc on sexual maturation of female sickle cell anemia (SCA) children in Enugu, Southeast Nigeria. ( 29870301 )
2018
20
Silent cerebral infarct definitions and full-scale IQ loss in children with sickle cell anemia. ( 29263226 )
2018
21
Urinary orosomucoid is associated with progressive chronic kidney disease stage in patients with sickle cell anemia. ( 29327376 )
2018
22
A case for community health programs for sickle cell anemia in low- to middle-income countries: An integrative review. ( 29851151 )
2018
23
Antibiotic Prophylaxis for Children With Sickle Cell Anemia. ( 29437860 )
2018
24
Impact of aerobic exercises on selected inflammatory markers and immune system response among patients with sickle cell anemia in asymptomatic steady state. ( 29977264 )
2018
25
L-glutamine for sickle cell anemia: more questions than answers. ( 29895661 )
2018
26
Angiotensin receptor signaling in sickle cell anemia has a reno-protective effect on urine concentrating ability but results in sickle glomerulopathy. ( 29675906 )
2018
27
Association of the <i>SOD2</i> Polymorphism (Val16Ala) and SOD Activity with Vaso-occlusive Crisis and Acute Splenic Sequestration in Children with Sickle Cell Anemia. ( 29531649 )
2018
28
Spontaneous epidural hematoma secondary to bone infarction in sickle cell anemia: case report. ( 29676678 )
2018
29
Sensorineural hearing loss in children with sickle cell anemia and its association with endothelial dysfunction. ( 29806800 )
2018
30
Carbon Monoxide, Repurposed: Researchers Are Developing Myriad Ways to Deliver CO to Treat Sickle Cell Anemia, Lung Disease, and More. ( 29373851 )
2018
31
Insulin Sensitivity, Inflammation, and Basal Metabolic Rate in Adults with Sickle Cell Anemia. ( 29744323 )
2018
32
Serum Hepcidin Concentration in Individuals with Sickle Cell Anemia: Basis for the Dietary Recommendation of Iron. ( 29673144 )
2018
33
Fixed Low-Dose Hydroxyurea for the Treatment of Adults with Sickle Cell Anemia in Nigeria. ( 29756251 )
2018
34
Pulmonary hypertension in Nigerian adults with sickle cell anemia. ( 28507438 )
2017
35
Evaluating risk factors for chronic kidney disease in pediatric patients with sickle cell anemia. ( 28382567 )
2017
36
Red blood cell transfusions during sickle cell anemia vaso-occlusive crises: a report from the magnesium in crisis (MAGiC) study. ( 28500682 )
2017
37
Heme-mediated cell activation: the inflammatory puzzle of sickle cell anemia. ( 28482712 )
2017
38
Doppler velocimetry of the orbital arteries in patients with sickle cell anemia: relationship with biomarkers of hemolysis. ( 28428653 )
2017
39
Application of genomics for transfusion therapy in sickle cell anemia. ( 28827079 )
2017
40
Assessment of biochemical liver function tests in relation to age among steady state sickle cell anemia patients. ( 29303127 )
2017
41
Associations between endothelial dysfunction and clinical and laboratory parameters in children and adolescents with sickle cell anemia. ( 28863145 )
2017
42
Spirometric Evaluation of Pulmonary Function in Nigerian Children underwent Bone Marrow Transplantation for Sickle Cell Anemia. ( 28512559 )
2017
43
Protective BCL11A and HBS1L-MYB polymorphisms in a cohort of 102 Congolese patients suffering from sickle cell anemia. ( 28332727 )
2017
44
Prevalence and determinants of microalbuminuria in children suffering from sickle cell anemia in steady state. ( 28852485 )
2017
45
Association of plasma CD40L with acute chest syndrome in sickle cell anemia. ( 28609750 )
2017
46
Hydroxycarbamide in Children with Sickle Cell Anemia After First-dose Vs. Chronic Therapy: Pharmacokinetics and Predictive Models for Drug Exposure. ( 28884840 )
2017
47
Association of silent infarcts in sickle cell anemia with decreased annexin A5 resistance. ( 28911832 )
2017
48
Reversal of pre-capillary pulmonary hypertension in a patient with sickle cell anemia who underwent haploidentical peripheral blood stem cell transplantation. ( 28067884 )
2017
49
Sickle cell anemia in sub-Saharan Africa: advancing the clinical paradigm through partnerships and research. ( 27821508 )
2017
50
Effectiveness, safety, and cost of partial exchange transfusions in patients with sickle-cell anemia at a sickle cell disease center in sub-Saharan Africa. ( 29313505 )
2017
Sources

Variations for Sickle Cell Anemia

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

75
# Symbol AA change Variation ID SNP ID
1 HBB p.Glu7Val VAR_002863 rs334

ClinVar genetic disease variations for Sickle Cell Anemia:

6
(show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 HBB NM_000518.4(HBB): c.19G> A (p.Glu7Lys) single nucleotide variant Pathogenic rs33930165 GRCh37 Chromosome 11, 5248233: 5248233
2 HBB NM_000518.4(HBB): c.19G> A (p.Glu7Lys) single nucleotide variant Pathogenic rs33930165 GRCh38 Chromosome 11, 5227003: 5227003
3 HBB NM_000518.4(HBB): c.79G> A (p.Glu27Lys) single nucleotide variant Pathogenic rs33950507 GRCh37 Chromosome 11, 5248173: 5248173
4 HBB NM_000518.4(HBB): c.79G> A (p.Glu27Lys) single nucleotide variant Pathogenic rs33950507 GRCh38 Chromosome 11, 5226943: 5226943
5 HBB NM_000518.4(HBB): c.364G> A (p.Glu122Lys) single nucleotide variant Pathogenic rs33946267 GRCh37 Chromosome 11, 5246908: 5246908
6 HBB NM_000518.4(HBB): c.364G> A (p.Glu122Lys) single nucleotide variant Pathogenic rs33946267 GRCh38 Chromosome 11, 5225678: 5225678
7 HBB NM_000518.4(HBB): c.249G> Y (p.Lys83Asn) single nucleotide variant Pathogenic rs33991993 GRCh37 Chromosome 11, 5247873: 5247873
8 HBB NM_000518.4(HBB): c.249G> Y (p.Lys83Asn) single nucleotide variant Pathogenic rs33991993 GRCh38 Chromosome 11, 5226643: 5226643
9 HBB NM_000518.4(HBB): c.20A> T (p.Glu7Val) single nucleotide variant Pathogenic rs334 GRCh37 Chromosome 11, 5248232: 5248232
10 HBB NM_000518.4(HBB): c.20A> T (p.Glu7Val) single nucleotide variant Pathogenic rs334 GRCh38 Chromosome 11, 5227002: 5227002
11 HBB NM_000518.4(HBB): c.9T> C (p.His3=) single nucleotide variant Benign rs713040 GRCh37 Chromosome 11, 5248243: 5248243
12 HBB NM_000518.4(HBB): c.9T> C (p.His3=) single nucleotide variant Benign rs713040 GRCh38 Chromosome 11, 5227013: 5227013
13 HBB NM_000518.4(HBB): c.*56A> T single nucleotide variant Uncertain significance rs537944366 GRCh37 Chromosome 11, 5246772: 5246772
14 HBB NM_000518.4(HBB): c.*56A> T single nucleotide variant Uncertain significance rs537944366 GRCh38 Chromosome 11, 5225542: 5225542
15 HBB NM_000518.4(HBB): c.*53C> A single nucleotide variant Uncertain significance rs886048393 GRCh37 Chromosome 11, 5246775: 5246775
16 HBB NM_000518.4(HBB): c.*53C> A single nucleotide variant Uncertain significance rs886048393 GRCh38 Chromosome 11, 5225545: 5225545
Sources

Expression for Sickle Cell Anemia

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

Pathways for Sickle Cell Anemia

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

# Super pathways Score Top Affiliating Genes
1
Glucose / Energy Metabolism 4
12.14 HBB HBG1 MTHFR UGT1A1 UGT1A6
2
Folate Metabolism 1
Show member pathways
 11.89 F2 HBA1 HBB MTHFR TNF
3
Binding and Uptake of Ligands by Scavenger Receptors 66
Show member pathways
 11.65 HBA1 HBA2 HBB
4
NF-kappa B signaling pathway 37
11.59 CD40LG TNF VCAM1
5
Photodynamic therapy-induced NF-kB survival signaling 1
Show member pathways
 11.38 CD40LG TNF VCAM1
6
Aryl Hydrocarbon Receptor Pathway 1
11.23 TNF UGT1A1 UGT1A6
7
O2/CO2 exchange in erythrocytes 66
Show member pathways
 11.04 HBA1 HBA2 HBB
8
African trypanosomiasis 37
10.9 HBA1 HBA2 HBB TNF VCAM1
9
Malaria 37
10.86 ACKR1 CD40LG HBA1 HBA2 HBB TNF
10
LDL Oxidation in Atherogenesis 64
10.68 TNF VCAM1
Sources

GO Terms for Sickle Cell Anemia

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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 CD40LG EPO F2 HBA1 HBA2 HBB
2 external side of plasma membrane GO:0009897 9.67 CD40LG F2 TNF VCAM1
3 blood microparticle GO:0072562 9.65 F2 HBA1 HBA2 HBB HBG2
4 endocytic vesicle lumen GO:0071682 9.33 HBA1 HBA2 HBB
5 haptoglobin-hemoglobin complex GO:0031838 9.13 HBA1 HBA2 HBB
6 hemoglobin complex GO:0005833 9.02 HBA1 HBA2 HBB HBG1 HBG2

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 blood coagulation GO:0007596 9.73 F2 HBB HBG1 HBG2
2 response to nutrient GO:0007584 9.7 EPO UGT1A1 VCAM1
3 cellular oxidant detoxification GO:0098869 9.69 HBA1 HBA2 HBB
4 protein heterooligomerization GO:0051291 9.63 HBA1 HBA2 HBB
5 response to hydrogen peroxide GO:0042542 9.58 HBA1 HBA2 HBB
6 leukocyte tethering or rolling GO:0050901 9.56 TNF VCAM1
7 cellular glucuronidation GO:0052695 9.55 UGT1A1 UGT1A6
8 xenobiotic glucuronidation GO:0052697 9.54 UGT1A1 UGT1A6
9 positive regulation of cell death GO:0010942 9.54 HBA1 HBA2 HBB
10 flavonoid glucuronidation GO:0052696 9.49 UGT1A1 UGT1A6
11 response to salt stress GO:0009651 9.48 EPO TNF
12 bicarbonate transport GO:0015701 9.43 HBA1 HBA2 HBB
13 acute-phase response GO:0006953 9.33 EPO F2 UGT1A1
14 regulation of immunoglobulin secretion GO:0051023 9.32 CD40LG TNF
15 hydrogen peroxide catabolic process GO:0042744 9.13 HBA1 HBA2 HBB
16 oxygen transport GO:0015671 9.02 HBA1 HBA2 HBB HBG1 HBG2

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

# Name GO ID Score Top Affiliating Genes
1 iron ion binding GO:0005506 9.72 HBA1 HBA2 HBB HBG1 HBG2
2 heme binding GO:0020037 9.65 HBA1 HBA2 HBB HBG1 HBG2
3 peroxidase activity GO:0004601 9.54 HBA1 HBA2 HBB
4 oxygen binding GO:0019825 9.35 HBA1 HBA2 HBB HBG1 HBG2
5 haptoglobin binding GO:0031720 9.33 HBA1 HBA2 HBB
6 oxygen carrier activity GO:0005344 9.02 HBA1 HBA2 HBB HBG1 HBG2
Sources

Sources for Sickle Cell Anemia

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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