MCID: SCK003
MIFTS: 71

Sickle Cell Anemia

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

Aliases & Classifications for Sickle Cell Anemia

MalaCards integrated aliases for Sickle Cell Anemia:

Name: Sickle Cell Anemia 54 38 12 72 50 24 56 71 13 41 14
Hemoglobin Sc Disease 12 50 42 69
Sickle Cell-Hemoglobin C Disease Syndrome 50 56
Sickle Cell Disease 56 71
Anemia, Sickle Cell 42 69
Hbsc Disease 50 56
Sc Disease 24 52
Sickle-Cell/hb-C Disease Without Crisis 12
Sickling Disorder Due to Hemoglobin S 50
Hemoglobin S Disease Without Crisis 12
Sickle Cell - Hemoglobin C Disease 50
Sickle Cell-Hemoglobin C Disease 29
Hb-Ss Disease Without Crisis 12
Hemoglobin S Disease 50
Hb-S/hb-C Disease 12
Sickle Cell Trait 69
Drepanocytosis 12
Hb Sc Disease 12
Hemoglobin Sc 24
Hemoglobin Ss 24
Hbs Disease 50
Skca 71

Characteristics:

Orphanet epidemiological data:

56
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:

54
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:



Summaries for Sickle Cell Anemia

MedlinePlus : 41 sickle cell anemia is a disease in which your body produces abnormally shaped red blood cells. the cells are shaped like a crescent or sickle. they don't last as long as normal, round red blood cells. this leads to anemia. the sickle cells also get stuck in blood vessels, blocking blood flow. this can cause pain and organ damage. a genetic problem causes sickle cell anemia. people with the disease are born with two sickle cell genes, one from each parent. if you only have one sickle cell gene, it's called sickle cell trait. about 1 in 12 african americans has sickle cell trait. the most common symptoms are pain and problems from anemia. anemia can make you feel tired or weak. in addition, you might have shortness of breath, dizziness, headaches, or coldness in the hands and feet. a blood test can show if you have the trait or anemia. most states test newborn babies as part of their newborn screening programs. sickle cell anemia has no widely available cure. treatments can help relieve symptoms and lessen complications. researchers are investigating new treatments such as blood and marrow stem cell transplants, gene therapy, and new medicines. nih: national heart, lung, and blood institute

MalaCards based summary : Sickle Cell Anemia, also known as hemoglobin sc disease, is related to plasmodium falciparum malaria and malaria, and has symptoms including recurrent infections, reticulocytosis and osteoporosis. An important gene associated with Sickle Cell Anemia is HBB (Hemoglobin Subunit Beta), and among its related pathways/superpathways are Glucose / Energy Metabolism and Binding and Uptake of Ligands by Scavenger Receptors. 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 phenotype is reproductive system.

NIH Rare Diseases : 50 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.  last updated: 11/11/2016

UniProtKB/Swiss-Prot : 71 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.

OMIM : 54
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)

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 212)
id Related Disease Score Top Affiliating Genes
1 plasmodium falciparum malaria 29.8 CD40LG EPO
2 malaria 27.8 CD40LG EPO HBA1 HBA2 HBB TNF
3 acute chest syndrome 11.5
4 bone marrow necrosis 11.3
5 deficiency anemia 11.3
6 fetal hemoglobin quantitative trait locus 2 10.9
7 renal tubular acidosis, distal 10.9
8 autoimmune polyglandular syndrome type 3 10.7 TNF VCAM1
9 landau-kleffner syndrome 10.6 F2 HBB
10 burning mouth syndrome 10.6 F2 TNF
11 nodular degeneration of cornea 10.6 HBB HBG2 UGT1A1
12 thalassemia 10.5
13 hepatitis b reinfection following liver transplantation 10.5 HBB HBG1 HBG2
14 bile duct cystadenoma 10.5 F2 HBB HBS1L
15 cyanosis, transient neonatal 10.5 HBB HBG1 HBG2
16 syncope 10.5 F2 MTHFR
17 glucosephosphate dehydrogenase deficiency 10.5 HBB MTHFR
18 porphyria 10.5 F2 MTHFR
19 hemopneumothorax 10.4 F2 HBA1
20 superior limbic keratoconjunctivitis 10.4 F2 MTHFR
21 spastic paraplegia 16, x-linked 10.4 HBA1 HBA2
22 follicular adenoma 10.4 F2 MTHFR
23 mixed mineral dust pneumoconiosis 10.4 F2 TNF VCAM1
24 neuropathy, ataxia, and retinitis pigmentosa 10.4 HBA1 HBA2
25 vagus nerve neoplasm 10.4 HBB HBG1 UGT1A1
26 nephrotic syndrome 14 10.4 HBA2 HBB
27 intra-abdominal lymph node mast cell malignancy 10.4 MTHFR TNF VCAM1
28 hyperbilirubinemia, familial transient neonatal 10.3 UGT1A1 UGT1A6
29 dermatomyositis 10.3 HBB UGT1A1 UGT1A6
30 wolman disease 10.3 HBA1 HBA2
31 cerebritis 10.3
32 mediastinum leiomyoma 10.3 EPO F2 MTHFR
33 cervix squamous papilloma 10.3 F2 MTHFR TNF
34 unclassified vasculitis 10.3 BCL11A HBB HBG1 HBG2
35 timothy syndrome type 2 10.3 EPO HBA2 HBB
36 tendinosis 10.3 EPO HBB HBG2
37 charcot-marie-tooth disease 10.2 F2 MTHFR TNF
38 methylmalonic acidemia with homocystinuria 10.2 HBA1 HBA2 HBB
39 pleural tuberculosis 10.2 F2 MTHFR TNF
40 gaba-transaminase deficiency 10.2 HBA1 HBA2 HBB
41 distal arthrogryposis 10.2 HBA1 HBA2 HBB
42 endotheliitis 10.2
43 pyelitis 10.2 F2 UGT1A1 UGT1A6
44 punctate epithelial keratoconjunctivitis 10.2 UGT1A1 UGT1A6
45 hemoglobin c disease 10.1
46 priapism 10.1
47 ovarian clear cell malignant adenofibroma 10.1 MTHFR UGT1A1 UGT1A6
48 cat-scratch disease 10.1 EPO HBA1 HBA2
49 asthma 10.1
50 rickettsialpox 10.1 CD40LG TNF

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

Symptoms via clinical synopsis from OMIM:

54

Genitourinary- Kidneys:
renal failure

Abdomen:
abdominal pain

Hematology:
leukocytosis
hypoxemia
sickle cell anemia
anemia, chronic
hemolysis

Abdomen- Spleen:
functional asplenia

Skeletal- Limbs:
avascular joint necrosis
joint and leg pain

Cardiovascular- Vascular:
pulmonary hypertension
vasculopathy
microcirculatory occlusion
hyperemia

Neurologic- Central Nervous System:
stroke
pain, secondary to vasoocclusion

Respiratory- Lung:
acute chest syndrome

Genitourinary- External Genitalia Male:
priapism

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


Clinical features from OMIM:

603903

Human phenotypes related to Sickle Cell Anemia:

56 32 (show all 35)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 recurrent infections 56 32 hallmark (90%) Very frequent (99-80%) HP:0002719
2 reticulocytosis 56 32 frequent (33%) Frequent (79-30%) HP:0001923
3 osteoporosis 56 32 frequent (33%) Frequent (79-30%) HP:0000939
4 hemolytic anemia 56 32 Very frequent (99-80%) HP:0001878
5 osteomyelitis 56 32 frequent (33%) Frequent (79-30%) HP:0002754
6 cholestasis 56 32 occasional (7.5%) Occasional (29-5%) HP:0001396
7 chronic hemolytic anemia 56 32 obligate (100%) Obligate (100%) HP:0004870
8 chest pain 56 32 frequent (33%) Frequent (79-30%) HP:0100749
9 microcytic anemia 56 32 very rare (1%) Very rare (<4-1%) HP:0001935
10 elevated serum creatinine 56 32 occasional (7.5%) Occasional (29-5%) HP:0003259
11 leukocytosis 56 32 frequent (33%) Frequent (79-30%) HP:0001974
12 thrombocytosis 56 32 frequent (33%) Frequent (79-30%) HP:0001894
13 hypoxemia 56 32 occasional (7.5%) Occasional (29-5%) HP:0012418
14 unconjugated hyperbilirubinemia 56 32 occasional (7.5%) Occasional (29-5%) HP:0008282
15 iron deficiency anemia 56 32 frequent (33%) Frequent (79-30%) HP:0001891
16 pigment gallstones 56 32 frequent (33%) Frequent (79-30%) HP:0011981
17 aseptic necrosis 56 32 frequent (33%) Frequent (79-30%) HP:0010885
18 abnormality of the spleen 56 32 frequent (33%) Frequent (79-30%) HP:0001743
19 abnormality of the nervous system 56 32 occasional (7.5%) Occasional (29-5%) HP:0000707
20 abnormality of the vasculature 56 32 occasional (7.5%) Occasional (29-5%) HP:0002597
21 persistence of hemoglobin f 56 32 occasional (7.5%) Occasional (29-5%) HP:0011904
22 abnormal lactate dehydrogenase activity 56 32 occasional (7.5%) Occasional (29-5%) HP:0045040
23 hepatomegaly 32 HP:0002240
24 splenomegaly 32 HP:0001744
25 jaundice 32 HP:0000952
26 hematuria 32 HP:0000790
27 cardiomegaly 32 HP:0001640
28 cholelithiasis 32 HP:0001081
29 increased mean corpuscular volume 32 very rare (1%) HP:0005518
30 retinopathy 32 HP:0000488
31 pain 56 Very frequent (99-80%)
32 priapism 32 HP:0200023
33 hypochromic anemia 56 Very rare (<4-1%)
34 erythrocyte macrocytosis 56 Very rare (<4-1%)
35 increased red cell sickling tendency 32 HP:0008346

UMLS symptoms related to Sickle Cell Anemia:


abdominal pain, angina pectoris, chest pain, edema

MGI Mouse Phenotypes related to Sickle Cell Anemia:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 reproductive system MP:0005389 9.23 CD40LG F2 HBA2 HBS1L MTHFR TGFBR3

Drugs & Therapeutics for Sickle Cell Anemia

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

(show top 50) (show all 386)
id 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
Hydroxyurea Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 127-07-1 3657
5
Deferasirox Approved, Investigational Phase 4,Phase 2,Phase 3 201530-41-8 5493381
6
Deferoxamine Approved, Investigational Phase 4,Phase 2,Phase 3 70-51-9 2973
7
Iron Approved Phase 4,Phase 2,Phase 3,Phase 1 7439-89-6 23925
8
Deferiprone Approved Phase 4,Phase 2,Phase 3,Phase 1 30652-11-0 2972
9
Proguanil Approved Phase 4,Phase 1,Phase 2 500-92-5 4923
10
Hydromorphone Approved, Illicit Phase 4,Phase 3,Phase 2 466-99-9 5284570
11
Morphine Approved, Investigational Phase 4,Phase 3,Phase 1,Phase 2 57-27-2 5288826
12
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4,Phase 2 437-38-7 3345
13
Amodiaquine Approved Phase 4,Phase 1,Phase 2 86-42-0 2165
14
Pyrimethamine Approved, Vet_approved Phase 4,Phase 3,Phase 1,Phase 2 58-14-0 4993
15
Sulfadoxine Approved Phase 4,Phase 3,Phase 1,Phase 2 2447-57-6 17134
16
Codeine Approved, Illicit Phase 4,Phase 1,Phase 2 76-57-3 5284371
17
Guaifenesin Approved, Vet_approved Phase 4,Phase 1,Phase 2 93-14-1 3516
18
Ibuprofen Approved Phase 4,Phase 2 15687-27-1 3672
19
Ketamine Approved, Vet_approved Phase 4,Phase 3,Phase 2 6740-88-1 3821
20
Desogestrel Approved Phase 4 54024-22-5 40973
21
Etonogestrel Approved, Investigational Phase 4 54048-10-1 40976 6917715
22
Heroin Approved, Illicit Phase 4 561-27-3 5462328
23
Ketorolac Approved Phase 4 74103-06-3, 66635-83-4 3826
24
Cholecalciferol Approved, Nutraceutical Phase 4,Phase 2,Phase 1 67-97-0 6221 10883523 5280795
25
Ergocalciferol Approved, Nutraceutical Phase 4,Phase 2,Phase 1 50-14-6 5280793
26
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4,Phase 2,Phase 1 1406-16-2
27 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1
28 Antimetabolites Phase 4,Phase 3,Phase 2,Phase 1
29 Antiviral Agents Phase 4,Phase 3,Phase 2,Phase 1
30 Interferon-alpha Phase 4
31 interferons Phase 4
32 Analgesics Phase 4,Phase 3,Phase 2,Phase 1
33 Nucleic Acid Synthesis Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
34 Calcium, Dietary Phase 4,Phase 2,Phase 3,Phase 1
35 Chelating Agents Phase 4,Phase 2,Phase 3,Phase 1
36 Iron Chelating Agents Phase 4,Phase 2,Phase 3,Phase 1
37 Liver Extracts Phase 4,Phase 2,Phase 3,Phase 1
38 Micronutrients Phase 4,Phase 2,Phase 3,Phase 1
39 Trace Elements Phase 4,Phase 2,Phase 3,Phase 1
40 Antimalarials Phase 4,Phase 3,Phase 2,Phase 1
41 Antiparasitic Agents Phase 4,Phase 3,Phase 2,Phase 1
42 Antiprotozoal Agents Phase 4,Phase 3,Phase 2,Phase 1
43 Bone Density Conservation Agents Phase 4,Phase 2,Phase 1
44 Ergocalciferols Phase 4,Phase 2,Phase 1
45 Vitamins Phase 4,Phase 2,Phase 3,Phase 1
46 Anti-Inflammatory Agents Phase 4,Phase 3,Phase 2,Phase 1
47 Vaccines Phase 4,Phase 3,Phase 2,Early Phase 1
48 Respiratory System Agents Phase 4,Phase 3,Phase 2,Phase 1
49 Analgesics, Opioid Phase 4,Phase 3,Phase 1,Phase 2
50 Central Nervous System Depressants Phase 4,Phase 2,Phase 3,Phase 1

Interventional clinical trials:

(show top 50) (show all 597)

id 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 Evaluation of the Impact of Renal Function on the Pharmacokinetics of SIKLOS ® (DARH) Completed NCT02522104 Phase 4 Siklos
5 Intranasal Fentanyl for Initial Treatment of a Vaso-occlusive Crisis Completed NCT01482091 Phase 4 Fentanyl Citrate;Normal Saline
6 Pilot Study for Patients With Poor Response to Deferasirox Completed NCT00749515 Phase 4 Deferoxamine;Deferasirox
7 Efficacy and Safety of Ferriprox® in Patients With Sickle Cell Disease or Other Anemias Recruiting NCT02041299 Phase 4 Deferiprone;Deferoxamine
8 Rejuvesol® Washed RBC in Sickle Cell Patients Requiring Frequent Transfusions Recruiting NCT02731157 Phase 4 Rejuvesol
9 Contraception in Women With Sickle Cell Disease Active, not recruiting NCT02594462 Phase 4 etonogestrel-releasing implant contraceptive
10 Risk Clinical Stratification of Sickle Cell Disease in Nigeria, Assessment of Efficacy/Safety of Hydroxyurea Treatment Active, not recruiting NCT02149537 Phase 4 hydroxyurea
11 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
12 Mobile-Directly Observed Therapy on Adherence to Hydroxyurea Enrolling by invitation NCT02844673 Phase 4 Hydroxyurea
13 Enhancing Preventive Therapy of Malaria In Children With Sickle Cell Anemia in East Africa (EPiTOMISE) Not yet recruiting NCT03178643 Phase 4 Proguanil Oral Tablet;Sulfadoxine/Pyrimethanine-Amodiaquine (SP-AQ);Dihydroartemisinin-Piperaquine (DP)
14 A Randomized Phase IV Control Trial of Single High Dose Oral Vitamin D3 in Pediatric Patients Undergoing HSCT Not yet recruiting NCT03176849 Phase 4
15 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
16 Ketorolac Versus Ibuprofen to Treat Painful Episodes of Sickle Cell Disease Terminated NCT00115336 Phase 4 Intravenous Ketorolac;Ibuprofen
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 Immunogenicity and Safety Study of Pneumococcal 7-Valent Conjugate Vaccine in Sickle Cell Disease Infants. Terminated NCT00368186 Phase 4
19 Endothelial Function in Patients With Sickle Cell Anemia Before and After Sildenafil Withdrawn NCT00937144 Phase 4 Viagra (Sildenafil);placebo
20 Assessment of Opioid Analgesia in Sickle Cell Withdrawn NCT00513864 Phase 4 Dextromethorphan;Codeine;Morphine
21 Transfusion Alternatives Pre-Operatively in Sickle Cell Disease (TAPS) Unknown status NCT00512577 Phase 3
22 Long-Term Effects of Hydroxyurea in Children With Sickle Cell Anemia (The BABY HUG Follow-up Study) Unknown status NCT00890396 Phase 3
23 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
24 Sulfadoxine- Pyrimethamine Versus Weekly Chloroquine for Malaria Prevention in Children With Sickle Cell Anemia Completed NCT00399074 Phase 3 sulfadoxine pyrimethamine
25 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
26 Evaluation of the Lung Capillary Blood Volume in Children With Sickle Cell Disease Completed NCT00560261 Phase 3
27 Evaluation of Purified Poloxamer 188 in Vaso-Occlusive Crisis of Sickle Cell Disease (EPIC) Completed NCT01737814 Phase 3 Saline;MST-188
28 Multicenter Study of Hydroxyurea in Patients With Sickle Cell Anemia (MSH) Completed NCT00000586 Phase 3 hydroxyurea
29 L-Arginine and Sickle Cell Disease Completed NCT01142219 Phase 3 L-arginine;Placebo
30 N-Acetylcysteine in Patients With Sickle Cell Disease Completed NCT01849016 Phase 3 N-Acetylcysteine;Placebo
31 Hypnosis to Manage Pain and Symptoms in Patients With Sickle Cell Disease Completed NCT00393250 Phase 3
32 Hydroxyurea to Prevent Organ Damage in Children With Sickle Cell Anemia Completed NCT00006400 Phase 3 Hydroxyurea;Placebo
33 Phase III Randomized Study of Poloxamer 188 for Vaso-Occlusive Crisis of Sickle Cell Disease Completed NCT00004408 Phase 3 poloxamer 188
34 Steroid Treatment for Sickle Cell Pain Crisis Completed NCT00263562 Phase 3 Methylprednisolone plus prednisone taper
35 Stroke Prevention in Sickle Cell Anemia (STOP 1) Completed NCT00000592 Phase 3
36 Silent Cerebral Infarct Transfusion Multi-Center Clinical Trial Completed NCT00072761 Phase 3
37 Evaluation of Repeat Administration of Purified Poloxamer 188 Completed NCT02449616 Phase 3 MST-188
38 Study Evaluating 13-valent Pneumococcal Conjugate Vaccine (13vPnC) in Children With Sickle Cell Disease Completed NCT00918580 Phase 3
39 Ameliorating Attention Problems in Children With Sickle Cell Disease (SCD) Completed NCT01411280 Phase 3 methylphenidate
40 Penicillin Prophylaxis in Sickle Cell Disease (PROPS) Completed NCT00000585 Phase 3 penicillin
41 Stroke Prevention in Sickle Cell Anemia (STOP 2) Completed NCT00006182 Phase 3
42 Intravenous Magnesium for Sickle Cell Vasoocclusive Crisis Completed NCT01197417 Phase 2, Phase 3 Intravenous Magnesium Sulfate;Normal Saline Placebo
43 Effect of Inhaled Nitric Oxide in Acute Chest Syndrome (INOSTA Study) Completed NCT00748423 Phase 2, Phase 3 Nitric Oxide;Placebo
44 MAST - Magnesium for Sickle Cell Acute Crisis in Children Completed NCT00313963 Phase 3 Magnesium Sulfate;Normal Saline
45 Mobilization and Handling of Stem Cells for Transplant From Healthy Volunteers With Sickle Cell Trait Completed NCT00005782 Phase 3 Granulocyte colony-stimulating factor
46 Expanded Access of Deferasirox to Patients With Congenital Disorders of Red Blood Cells and Chronic Iron Overload Completed NCT00235391 Phase 3 Deferasirox
47 A Trial of Hydroxyurea in Spinal Muscular Atrophy Completed NCT00485511 Phase 2, Phase 3 Hydroxyurea
48 Immunization of Children Between 8 Weeks and 2 Years of Age With GSK Pneumococcal Vaccine GSK1024850A Completed NCT01175083 Phase 3
49 Stem Cell Transplantation for Sickle Cell Anemia Recruiting NCT01877837 Phase 3 Alemtuzumab;Fludarabine;Melphalan
50 Oxygen Therapy and Pregnancy in Sickle Cell Disease Recruiting NCT02813850 Phase 3

Search NIH Clinical Center for Sickle Cell Anemia

Inferred drug relations via UMLS 69 / NDF-RT 48 :


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:

id Genetic test Affiliating Genes
1 Sickle Cell-Hemoglobin C Disease 29
2 Hemoglobin Sc 24 HBB
3 Hemoglobin Ss 24 HBB

Anatomical Context for Sickle Cell Anemia

MalaCards organs/tissues related to Sickle Cell Anemia:

39
Bone, Bone Marrow, Heart, Kidney, Lung, Testes, Endothelial
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Sickle Cell Anemia:
id 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 811)
id Title Authors Year
1
Sickle cell anemia in sub-Saharan Africa: advancing the clinical paradigm through partnerships and research. ( 27821508 )
2017
2
Extensive Bone Marrow Necrosis: Initial Presentation in Sickle Cell Anemia-A Case Report and Review of the Literature. ( 28695026 )
2017
3
Doppler velocimetry of the orbital arteries in patients with sickle cell anemia: relationship with biomarkers of hemolysis. ( 28428653 )
2017
4
Are dental and jaw changes more prevalent in a Brazilian population with sickle cell anemia? ( 28412236 )
2017
5
Prevalence and determinants of microalbuminuria in children suffering from sickle cell anemia in steady state. ( 28852485 )
2017
6
Red blood cell minor antigen mismatches during chronic transfusion therapy for sickle cell anemia. ( 28840600 )
2017
7
Biomechanics and biorheology of red blood cells in sickle cell anemia. ( 27876368 )
2017
8
Hydroxycarbamide in Children with Sickle Cell Anemia After First-dose Vs. Chronic Therapy: Pharmacokinetics and Predictive Models for Drug Exposure. ( 28884840 )
2017
9
Feasibility Trial for Primary Stroke Prevention in Children with Sickle Cell Anemia in Nigeria (SPIN Trial). ( 28439953 )
2017
10
Protein C and antithrombin levels in patients with sickle cell anemia in Ahmadu Bello University Teaching Hospital Zaria, Nigeria. ( 28891545 )
2017
11
Associations of I+-thalassemia and BCL11A with stroke in Nigerian, United States, and United Kingdom sickle cell anemia cohorts. ( 28868518 )
2017
12
Application of genomics for transfusion therapy in sickle cell anemia. ( 28827079 )
2017
13
An age dependent response to hydroxyurea in pediatric sickle cell anemia patients with alpha thalassemia trait. ( 28783617 )
2017
14
A reappraisal of the mechanisms underlying the cardiac complications of sickle cell anemia. ( 28453224 )
2017
15
Association of classical markers and establishment of the dyslipidemic sub-phenotype of sickle cell anemia. ( 28399852 )
2017
16
Cerebral hemodynamics and pseudo-continuous arterial spin labeling considerations in adults with sickle cell anemia. ( 28052565 )
2017
17
Association of silent infarcts in sickle cell anemia with decreased annexin A5 resistance. ( 28911832 )
2017
18
"Fish-mouth" vertebrae in sickle cell anemia. ( 28401280 )
2017
19
Association between diffuse myocardial fibrosis and diastolic dysfunction in sickle cell anemia. ( 28507082 )
2017
20
Protective BCL11A and HBS1L-MYB polymorphisms in a cohort of 102 Congolese patients suffering from sickle cell anemia. ( 28332727 )
2017
21
Comparative study of sickle cell anemia and hemoglobin SC disease: clinical characterization, laboratory biomarkers and genetic profiles. ( 28932402 )
2017
22
Differences of microparticle patterns between sickle cell anemia and hemoglobin SC patients. ( 28489923 )
2017
23
Induced Pluripotent Stem Cell for the Study and Treatment of Sickle Cell Anemia. ( 28814957 )
2017
24
A comment on improving transcranial Doppler ultrasonography screening in children with sickle cell anemia. ( 28335074 )
2017
25
Association of plasma CD40L with acute chest syndrome in sickle cell anemia. ( 28609750 )
2017
26
Lack of mortality in 22 children with sickle cell anemia and severe malarial anemia. ( 28834130 )
2017
27
DAT-positive Plasmodium ovale malaria presenting in a child with sickle cell anemia. ( 28211104 )
2017
28
Pulmonary hypertension in Nigerian adults with sickle cell anemia. ( 28507438 )
2017
29
Gum Arabic as novel anti-oxidant agent in sickle cell anemia, phase II trial. ( 28331623 )
2017
30
Towards a point-of-care strip test to diagnose sickle cell anemia. ( 28520780 )
2017
31
Heme-mediated cell activation: the inflammatory puzzle of sickle cell anemia. ( 28482712 )
2017
32
Transfusion-transmitted babesiosis leading to severe hemolysis in two patients with sickle cell anemia. ( 28766838 )
2017
33
A clinically meaningful fetal hemoglobin threshold for children with sickle cell anemia during hydroxyurea therapy. ( 28913922 )
2017
34
A phased SNP-based classification of sickle cell anemia HBB haplotypes. ( 28800727 )
2017
35
Evaluating risk factors for chronic kidney disease in pediatric patients with sickle cell anemia. ( 28382567 )
2017
36
Opportunities for model-based precision dosing in the treatment of sickle cell anemia. ( 28807656 )
2017
37
Substituting Sodium Hydrosulfite with Sodium Metabisulfite Improves Long-Term Stability of a Distributable Paper-Based Test Kit for Point-of-Care Screening for Sickle Cell Anemia. ( 28930183 )
2017
38
Red blood cell transfusions during sickle cell anemia vaso-occlusive crises: a report from the magnesium in crisis (MAGiC) study. ( 28500682 )
2017
39
Design of the DREPAGREFFE trial: A prospective controlled multicenter study evaluating the benefit of genoidentical hematopoietic stem cell transplantation over chronic transfusion in sickle cell anemia children detected to be at risk of stroke by transcranial Doppler (NCT 01340404). ( 28821470 )
2017
40
Reversal of pre-capillary pulmonary hypertension in a patient with sickle cell anemia who underwent haploidentical peripheral blood stem cell transplantation. ( 28067884 )
2017
41
Spirometric Evaluation of Pulmonary Function in Nigerian Children underwent Bone Marrow Transplantation for Sickle Cell Anemia. ( 28512559 )
2017
42
Therapeutic strategies in Sickle Cell Anemia: The past present and future. ( 28435037 )
2017
43
Nocturnal enuresis in school-aged children with sickle-cell anemia: Any relationship with hyposthenuria? ( 28091440 )
2017
44
Combined genotypes of the MBL2 gene related to low mannose-binding lectin levels are associated with vaso-occlusive events in children with sickle cell anemia. ( 28837214 )
2017
45
Comparison of Outcomes in Patients Having Acute Myocardial Infarction With Versus Without Sickle-Cell Anemia. ( 28867123 )
2017
46
Associations between endothelial dysfunction and clinical and laboratory parameters in children and adolescents with sickle cell anemia. ( 28863145 )
2017
47
Losartan therapy decreases albuminuria with stable glomerular filtration and permselectivity in sickle cell anemia. ( 28951038 )
2017
48
Measurements of red cell deformability and hydration reflect HbF and HbA2 in blood from patients with sickle cell anemia. ( 28472705 )
2017
49
High Prevalence of Individuals with Low Concentration of Fetal Hemoglobin in F-cells in Sickle Cell Anemia in Tanzania. ( 27085091 )
2016
50
Homozygosity for a haplotype in the HBG2-OR51B4 region is exclusive to Arab-Indian haplotype sickle cell anemia. ( 27185208 )
2016

Variations for Sickle Cell Anemia

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

71
id Symbol AA change Variation ID SNP ID
1 HBB p.Glu7Val VAR_002863 rs334

ClinVar genetic disease variations for Sickle Cell Anemia:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 HBB NM_000518.4(HBB): c.19G> A (p.Glu7Lys) single nucleotide variant Pathogenic,protective rs33930165 GRCh37 Chromosome 11, 5248233: 5248233
2 HBB NM_000518.4(HBB): c.364G> C (p.Glu122Gln) single nucleotide variant Pathogenic rs33946267 GRCh37 Chromosome 11, 5246908: 5246908
3 HBB NM_000518.4(HBB): c.79G> A (p.Glu27Lys) single nucleotide variant Pathogenic,protective rs33950507 GRCh37 Chromosome 11, 5248173: 5248173
4 HBB NM_000518.4(HBB): c.364G> A (p.Glu122Lys) single nucleotide variant Pathogenic rs33946267 GRCh37 Chromosome 11, 5246908: 5246908
5 HBB NM_000518.4(HBB): c.20A> T (p.Glu7Val) single nucleotide variant Pathogenic,protective rs334 GRCh37 Chromosome 11, 5248232: 5248232

Expression for Sickle Cell Anemia

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

Pathways for Sickle Cell Anemia

GO Terms for Sickle Cell Anemia

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

id Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.97 CD40LG EPO F2 HBA1 HBA2 HBB
2 cell surface GO:0009986 9.8 CD40LG EPO TGFBR3 TNF VCAM1
3 external side of plasma membrane GO:0009897 9.77 CD40LG F2 TGFBR3 TNF VCAM1
4 blood microparticle GO:0072562 9.65 F2 HBA1 HBA2 HBB HBG2
5 endocytic vesicle lumen GO:0071682 9.33 HBA1 HBA2 HBB
6 haptoglobin-hemoglobin complex GO:0031838 9.13 HBA1 HBA2 HBB
7 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 17)
id Name GO ID Score Top Affiliating Genes
1 blood coagulation GO:0007596 9.76 F2 HBB HBG1 HBG2
2 response to nutrient GO:0007584 9.72 EPO UGT1A1 VCAM1
3 cellular oxidant detoxification GO:0098869 9.71 HBA1 HBA2 HBB
4 protein heterooligomerization GO:0051291 9.67 HBA1 HBA2 HBB
5 response to hypoxia GO:0001666 9.67 EPO MTHFR TGFBR3 VCAM1
6 response to hydrogen peroxide GO:0042542 9.61 HBA1 HBA2 HBB
7 positive regulation of cell death GO:0010942 9.58 HBA1 HBA2 HBB
8 cellular glucuronidation GO:0052695 9.57 UGT1A1 UGT1A6
9 leukocyte tethering or rolling GO:0050901 9.56 TNF VCAM1
10 xenobiotic glucuronidation GO:0052697 9.52 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 flavonoid glucuronidation GO:0052696 9.21 UGT1A1
16 hydrogen peroxide catabolic process GO:0042744 9.13 HBA1 HBA2 HBB
17 oxygen transport GO:0015671 9.02 HBA1 HBA2 HBB HBG1 HBG2

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

id 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 transporter activity GO:0005344 9.02 HBA1 HBA2 HBB HBG1 HBG2

Sources for Sickle Cell Anemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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