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 53 37 12 72 72 49 55 71 36 13 40 14 59
Hemoglobin Sc Disease 12 72 49 41 69
Sickle Cell-Hemoglobin C Disease Syndrome 49 55
Sickle Cell Disease 55 71
Anemia, Sickle Cell 41 69
Hbsc Disease 49 55
Sickle-Cell/hb-C Disease Without Crisis 12
Sickling Disorder Due to Hemoglobin S 49
Hemoglobin S Disease Without Crisis 12
Sickle Cell - Hemoglobin C Disease 49
Sickle Cell-Hemoglobin C Disease 28
Hb-Ss Disease Without Crisis 12
Hemoglobin S Disease 49
Hb-S/hb-C Disease 12
Sickle Cell Trait 69
Drepanocytosis 12
Hb Sc Disease 12
Hbs Disease 49
Skca 71


Orphanet epidemiological data:

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;


autosomal recessive

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


sickle cell anemia:
Inheritance autosomal recessive inheritance


Summaries for Sickle Cell Anemia

MedlinePlus : 40 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 deficiency anemia and hemoglobin c disease, and has symptoms including chest pain, aseptic necrosis 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 Selenium Micronutrient Network. 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.

OMIM : 53 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 : 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.

NIH Rare Diseases : 49 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

PubMed Health : 59
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.

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 240)
# Related Disease Score Top Affiliating Genes
1 deficiency anemia 31.4 EPO G6PD HBA2 HBB HBG2
2 hemoglobin c disease 30.8 HBB MTHFR
3 plasmodium falciparum malaria 30.3 G6PD HBB TNF
4 cholelithiasis 30.3 HBB UGT1A1 UGT1A6
5 splenic infarction 30.2 F2 HBB
6 cerebrovascular disease 30.0 F2 MTHFR TNF VCAM1
7 fetal hemoglobin quantitative trait locus 1 30.0 HBB HBG1 HBG2
8 glucosephosphate dehydrogenase deficiency 29.9 G6PD HBB HBG2 UGT1A1
9 spinal cord infarction 29.9 F2 MTHFR
10 hereditary spherocytosis 29.7 G6PD HBB HBG1 UGT1A1
11 endocarditis 29.7 F2 TNF VCAM1
12 arteries, anomalies of 29.7 F2 MTHFR TNF VCAM1
13 cholangitis 29.5 CD40LG F2 TNF
14 thalassemia 29.2 BCL11A EPO HBA1 HBA2 HBB HBG1
15 bilirubin metabolic disorder 29.2 F2 G6PD UGT1A1 UGT1A6
16 hemoglobinopathy 28.7 EPO HBA1 HBA2 HBB HBG1 UGT1A1
17 alpha-thalassemia 28.4 EPO G6PD HBA1 HBA2 HBB HBG1
18 beta-thalassemia 28.2 BCL11A EPO G6PD HBA1 HBA2 HBB
19 malaria 28.1 CD40LG EPO G6PD HBA1 HBA2 HBB
20 sickle cell disease 27.5 BCL11A EPO G6PD HBA2 HBB HBG1
21 acute chest syndrome 11.5
22 bone marrow necrosis 11.4
23 roberts syndrome 11.2
24 hpa i recognition polymorphism, beta-globin-related 11.1
25 fetal hemoglobin quantitative trait locus 2 11.0
26 focal segmental glomerulosclerosis 11.0
27 renal tubular acidosis, distal 11.0
28 acquired methemoglobinemia 10.5 G6PD HBG2
29 congenital methemoglobinemia 10.5 G6PD HBG2
30 autoimmune myocarditis 10.4 TNF VCAM1
31 cerebritis 10.4
32 episodic pain syndrome, familial, 1 10.4
33 acute erythroid leukemia 10.3 EPO HBB HBG1
34 marburg hemorrhagic fever 10.3 F2 TNF
35 hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome 10.3 HBB HBG1 HBG2
36 hemosiderosis 10.3
37 trench fever 10.3 CD40LG TNF
38 aging 10.3
39 endotheliitis 10.3
40 encephalitozoonosis 10.2 CD40LG TNF
41 chronic granulomatous disease 10.2 G6PD HBG2 TNF
42 rheumatoid lung disease 10.2 CD40LG TNF
43 miller fisher syndrome 10.2 CD40LG TNF
44 priapism 10.2
45 iritis 10.2 CD40LG EPO
46 mesenteric vascular occlusion 10.2 F2 MTHFR
47 hemoglobin e disease 10.2 F2 HBB HBS1L
48 asthma 10.2
49 stroke, ischemic 10.2
50 sudden sensorineural hearing loss 10.2 F2 MTHFR

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:

abdominal pain

Neurologic Central Nervous System:
pain, secondary to vasoocclusion

Genitourinary Kidneys:
renal failure

Abdomen Spleen:
functional asplenia

Skeletal Limbs:
avascular joint necrosis
joint and leg pain

sickle cell anemia
anemia, chronic

Cardiovascular Vascular:
pulmonary hypertension
microcirculatory occlusion

Genitourinary External Genitalia Male:

Respiratory Lung:
acute chest syndrome

increased susceptibility to bacterial infections
resistance to falciparum malaria infection

Clinical features from OMIM:


Human phenotypes related to Sickle Cell Anemia:

55 31 (show all 38)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 chest pain 55 31 frequent (33%) Frequent (79-30%) HP:0100749
2 aseptic necrosis 55 31 frequent (33%) Frequent (79-30%) HP:0010885
3 osteoporosis 55 31 frequent (33%) Frequent (79-30%) HP:0000939
4 hemolytic anemia 55 31 Very frequent (99-80%) HP:0001878
5 microcytic anemia 55 31 very rare (1%) Very rare (<4-1%) HP:0001935
6 chronic hemolytic anemia 55 31 obligate (100%) Obligate (100%) HP:0004870
7 recurrent infections 55 31 hallmark (90%) Very frequent (99-80%) HP:0002719
8 abnormality of the spleen 55 31 frequent (33%) Frequent (79-30%) HP:0001743
9 iron deficiency anemia 55 31 frequent (33%) Frequent (79-30%) HP:0001891
10 thrombocytosis 55 31 frequent (33%) Frequent (79-30%) HP:0001894
11 reticulocytosis 55 31 frequent (33%) Frequent (79-30%) HP:0001923
12 leukocytosis 55 31 frequent (33%) Frequent (79-30%) HP:0001974
13 osteomyelitis 55 31 frequent (33%) Frequent (79-30%) HP:0002754
14 pigment gallstones 55 31 frequent (33%) Frequent (79-30%) HP:0011981
15 abnormality of the nervous system 55 31 occasional (7.5%) Occasional (29-5%) HP:0000707
16 cholestasis 55 31 occasional (7.5%) Occasional (29-5%) HP:0001396
17 abnormality of the vasculature 55 31 occasional (7.5%) Occasional (29-5%) HP:0002597
18 elevated serum creatinine 55 31 occasional (7.5%) Occasional (29-5%) HP:0003259
19 unconjugated hyperbilirubinemia 55 31 occasional (7.5%) Occasional (29-5%) HP:0008282
20 persistence of hemoglobin f 55 31 occasional (7.5%) Occasional (29-5%) HP:0011904
21 hypoxemia 55 31 occasional (7.5%) Occasional (29-5%) HP:0012418
22 abnormal lactate dehydrogenase activity 55 31 occasional (7.5%) Occasional (29-5%) HP:0045040
23 increased mean corpuscular volume 55 31 very rare (1%) Very rare (<4-1%) HP:0005518
24 pain 55 Very frequent (99-80%)
25 abdominal pain 31 HP:0002027
26 splenomegaly 31 HP:0001744
27 hepatomegaly 31 HP:0002240
28 renal insufficiency 31 HP:0000083
29 retinopathy 31 HP:0000488
30 cardiomegaly 31 HP:0001640
31 cholelithiasis 31 HP:0001081
32 jaundice 31 HP:0000952
33 hematuria 31 HP:0000790
34 hypochromic anemia 55 Very rare (<4-1%)
35 stroke 31 HP:0001297
36 recurrent bacterial infections 31 HP:0002718
37 priapism 31 HP:0200023
38 increased red cell sickling tendency 31 HP:0008346

UMLS symptoms related to Sickle Cell Anemia:

edema, chest pain, angina pectoris, abdominal pain

Drugs & Therapeutics for Sickle Cell Anemia

PubMedHealth treatment related to Sickle Cell Anemia: 59

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
Peginterferon alfa-2a Approved, Investigational Phase 4 198153-51-4 5360545
Peginterferon alfa-2b Approved Phase 4 215647-85-1, 99210-65-8
Ribavirin Approved Phase 4 36791-04-5 37542
Hydroxyurea Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 127-07-1 3657
Deferasirox Approved, Investigational Phase 4,Phase 2,Phase 3 201530-41-8 5493381
Deferoxamine Approved, Investigational Phase 4,Phase 2,Phase 3 70-51-9 2973
Iron Approved Phase 4,Phase 2,Phase 3,Phase 1 7439-89-6 23925
Proguanil Approved Phase 4,Phase 1,Phase 2 500-92-5 4923
Deferiprone Approved Phase 4,Phase 2,Phase 3,Phase 1 30652-11-0 2972
Hydromorphone Approved, Illicit Phase 4,Phase 3,Phase 2 466-99-9 5284570
Morphine Approved, Investigational Phase 4,Phase 3,Phase 1,Phase 2 57-27-2 5288826
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4,Phase 2 437-38-7 3345
Amodiaquine Approved, Investigational Phase 4,Phase 1,Phase 2 86-42-0 2165
Pyrimethamine Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 1,Phase 2 58-14-0 4993
Sulfadoxine Approved, Investigational Phase 4,Phase 3,Phase 1,Phase 2 2447-57-6 17134
Codeine Approved, Illicit Phase 4,Phase 1,Phase 2 76-57-3 5284371
Guaifenesin Approved, Investigational, Vet_approved Phase 4,Phase 1,Phase 2 93-14-1 3516
Ibuprofen Approved Phase 4,Phase 2 15687-27-1 3672
Ketamine Approved, Vet_approved Phase 4,Phase 3,Phase 2 6740-88-1 3821
Desogestrel Approved Phase 4 54024-22-5 40973
Etonogestrel Approved, Investigational Phase 4 54048-10-1 6917715 40976
Heroin Approved, Illicit, Investigational Phase 4 561-27-3 5462328
Ketorolac Approved Phase 4 74103-06-3, 66635-83-4 3826
Cholecalciferol Approved, Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1 67-97-0 10883523 5280795 6221
Ergocalciferol Approved, Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1 50-14-6 5280793
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 1406-16-2
Citric Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 2,Phase 1,Early Phase 1 77-92-9 311
28 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
29 Antimetabolites Phase 4,Phase 3,Phase 2,Phase 1
30 Antiviral Agents Phase 4,Phase 3,Phase 2,Phase 1
31 Interferon-alpha Phase 4
32 interferons Phase 4
33 Analgesics Phase 4,Phase 3,Phase 2,Phase 1
34 Central Nervous System Depressants Phase 4,Phase 2,Phase 3,Phase 1
35 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Phase 1
36 Nucleic Acid Synthesis Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
37 Anesthetics Phase 4,Phase 2,Phase 3,Phase 1
38 Anesthetics, General Phase 4,Phase 3,Phase 2,Phase 1
39 Calcium, Dietary Phase 4,Phase 2,Phase 3,Phase 1
40 Chelating Agents Phase 4,Phase 2,Phase 3,Phase 1
41 Iron Chelating Agents Phase 4,Phase 2,Phase 3,Phase 1
42 Liver Extracts Phase 4,Phase 2,Phase 3,Phase 1
43 Antimalarials Phase 4,Phase 3,Phase 2,Phase 1
44 Antiparasitic Agents Phase 4,Phase 3,Phase 2,Phase 1
45 Antiprotozoal Agents Phase 4,Phase 3,Phase 2,Phase 1
46 Micronutrients Phase 4,Phase 2,Phase 3,Phase 1
47 Trace Elements Phase 4,Phase 2,Phase 3,Phase 1
48 Bone Density Conservation Agents Phase 4,Phase 3,Phase 2,Phase 1
49 Ergocalciferols Phase 4,Phase 3,Phase 2,Phase 1
50 Vitamins Phase 4,Phase 2,Phase 3,Phase 1

Interventional clinical trials:

(show top 50) (show all 621)

# 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 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)
8 Efficacy and Safety of Ferriprox® in Patients With Sickle Cell Disease or Other Anemias Recruiting NCT02041299 Phase 4 Deferiprone;Deferoxamine
9 Rejuvesol® Washed RBC in Sickle Cell Patients Requiring Frequent Transfusions Recruiting NCT02731157 Phase 4 Rejuvesol
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 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 Pilot Study on the Effects of Intravenous Ketamine on Acute Pain Crisis in Patients With Sickle Cell Disease Terminated NCT00252122 Phase 4 Ketamine
17 Ketorolac Versus Ibuprofen to Treat Painful Episodes of Sickle Cell Disease Terminated NCT00115336 Phase 4 Intravenous Ketorolac;Ibuprofen
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 Evaluation of the Lung Capillary Blood Volume in Children With Sickle Cell Disease Completed NCT00560261 Phase 3
25 Sulfadoxine- Pyrimethamine Versus Weekly Chloroquine for Malaria Prevention in Children With Sickle Cell Anemia Completed NCT00399074 Phase 3 sulfadoxine pyrimethamine
26 Evaluation of Purified Poloxamer 188 in Vaso-Occlusive Crisis of Sickle Cell Disease (EPIC) Completed NCT01737814 Phase 3 Saline;MST-188
27 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
28 L-Arginine and Sickle Cell Disease Completed NCT01142219 Phase 3 L-arginine;Placebo
29 N-Acetylcysteine in Patients With Sickle Cell Disease Completed NCT01849016 Phase 3 N-Acetylcysteine;Placebo
30 Hypnosis to Manage Pain and Symptoms in Patients With Sickle Cell Disease Completed NCT00393250 Phase 3
31 Multicenter Study of Hydroxyurea in Patients With Sickle Cell Anemia (MSH) Completed NCT00000586 Phase 3 hydroxyurea
32 Phase III Randomized Study of Poloxamer 188 for Vaso-Occlusive Crisis of Sickle Cell Disease Completed NCT00004408 Phase 3 poloxamer 188
33 Steroid Treatment for Sickle Cell Pain Crisis Completed NCT00263562 Phase 3 Methylprednisolone plus prednisone taper
34 Hydroxyurea to Prevent Organ Damage in Children With Sickle Cell Anemia Completed NCT00006400 Phase 3 Hydroxyurea;Placebo
35 Evaluation of Repeat Administration of Purified Poloxamer 188 Completed NCT02449616 Phase 3 MST-188
36 Study Evaluating 13-valent Pneumococcal Conjugate Vaccine (13vPnC) in Children With Sickle Cell Disease Completed NCT00918580 Phase 3
37 Silent Cerebral Infarct Transfusion Multi-Center Clinical Trial Completed NCT00072761 Phase 3
38 Stroke Prevention in Sickle Cell Anemia (STOP 1) Completed NCT00000592 Phase 3
39 Ameliorating Attention Problems in Children With Sickle Cell Disease (SCD) Completed NCT01411280 Phase 3 methylphenidate
40 Novel Use Of Hydroxyurea in an African Region With Malaria Completed NCT01976416 Phase 3 Hydroxyurea;Placebo
41 Penicillin Prophylaxis in Sickle Cell Disease (PROPS) Completed NCT00000585 Phase 3 penicillin
42 Intravenous Magnesium for Sickle Cell Vasoocclusive Crisis Completed NCT01197417 Phase 2, Phase 3 Intravenous Magnesium Sulfate;Normal Saline Placebo
43 Stroke Prevention in Sickle Cell Anemia (STOP 2) Completed NCT00006182 Phase 3
44 Effect of Inhaled Nitric Oxide in Acute Chest Syndrome (INOSTA Study) Completed NCT00748423 Phase 2, Phase 3 Nitric Oxide;Placebo
45 Choosing Opioid Management for Pain and Analyzing Acute Chest Syndrome (ACS) Rates Equally Completed NCT01380197 Phase 3 Morphine;Nubain
46 Mobilization and Handling of Stem Cells for Transplant From Healthy Volunteers With Sickle Cell Trait Completed NCT00005782 Phase 3 Granulocyte colony-stimulating factor
47 MAST - Magnesium for Sickle Cell Acute Crisis in Children Completed NCT00313963 Phase 3 Magnesium Sulfate;Normal Saline
48 Expanded Access of Deferasirox to Patients With Congenital Disorders of Red Blood Cells and Chronic Iron Overload Completed NCT00235391 Phase 3 Deferasirox
49 A Trial of Hydroxyurea in Spinal Muscular Atrophy Completed NCT00485511 Phase 2, Phase 3 Hydroxyurea
50 Immunization of Children Between 8 Weeks and 2 Years of Age With GSK Pneumococcal Vaccine GSK1024850A Completed NCT01175083 Phase 3

Search NIH Clinical Center for Sickle Cell Anemia

Inferred drug relations via UMLS 69 / NDF-RT 47 :

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: anemia, sickle cell

Genetic Tests for Sickle Cell Anemia

Genetic tests related to Sickle Cell Anemia:

# Genetic test Affiliating Genes
1 Sickle Cell-Hemoglobin C Disease 28

Anatomical Context for Sickle Cell Anemia

MalaCards organs/tissues related to Sickle Cell Anemia:

Bone, Bone Marrow, Lung, Heart, Kidney, 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:
# 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 833)
# Title Authors Year
Urinary orosomucoid is associated with progressive chronic kidney disease stage in patients with sickle cell anemia. ( 29327376 )
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 )
Silent cerebral infarct definitions and full-scale IQ loss in children with sickle cell anemia. ( 29263226 )
Lower Transcranial Doppler Flow Velocities in Sickle Cell Anemia Patients on Hydroxyurea: Myth or Fact. ( 29398806 )
Sickle cell retinopathy and other chronic complications of sickle cell anemia: A clinical study of 84 Sub-Saharan African cases (Cameroon). ( 29295792 )
Feasibility trial for primary stroke prevention in children with sickle cell anemia in Nigeria (SPIN trial). ( 29411418 )
Antibiotic Prophylaxis for Children With Sickle Cell Anemia. ( 29437860 )
Carbon Monoxide, Repurposed: Researchers Are Developing Myriad Ways to Deliver CO to Treat Sickle Cell Anemia, Lung Disease, and More. ( 29373851 )
Coexistent sickle-cell anemia and autoimmune disease in eight children: pitfalls and challenges. ( 29343274 )
Posterior reversible encephalopathy syndrome secondary to asymptomatic poststreptococcal glomerulonephritis in a child with sickle cell anemia: a case report. ( 29386039 )
Association between Oxidative Stress, Genetic Factors, and Clinical Severity in Children with Sickle Cell Anemia. ( 29449005 )
Heme-mediated cell activation: the inflammatory puzzle of sickle cell anemia. ( 28482712 )
Spirometric Evaluation of Pulmonary Function in Nigerian Children underwent Bone Marrow Transplantation for Sickle Cell Anemia. ( 28512559 )
A reappraisal of the mechanisms underlying the cardiac complications of sickle cell anemia. ( 28453224 )
Therapeutic strategies in Sickle Cell Anemia: The past present and future. ( 28435037 )
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 )
An age dependent response to hydroxyurea in pediatric sickle cell anemia patients with alpha thalassemia trait. ( 28783617 )
Association of classical markers and establishment of the dyslipidemic sub-phenotype of sickle cell anemia. ( 28399852 )
Cerebral hemodynamics and pseudo-continuous arterial spin labeling considerations in adults with sickle cell anemia. ( 28052565 )
Red cell exchange transfusions lower cerebral blood flow and oxygen extraction fraction in pediatric sickle cell anemia. ( 29255068 )
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 )
Opportunities for model-based precision dosing in the treatment of sickle cell anemia. ( 28807656 )
Impact of genetic polymorphisms in key enzymes of homocysteine metabolism on the pathophysiology of sickle cell anemia. ( 28188925 )
Hydroxycarbamide in Children with Sickle Cell Anemia After First-dose Vs. Chronic Therapy: Pharmacokinetics and Predictive Models for Drug Exposure. ( 28884840 )
Biomechanics and biorheology of red blood cells in sickle cell anemia. ( 27876368 )
Macrophage activation syndrome and post-transplant microangiopathy following haploidentical bone marrow transplantation for sickle cell anemia. ( 29197110 )
Protective BCL11A and HBS1L-MYB polymorphisms in a cohort of 102 Congolese patients suffering from sickle cell anemia. ( 28332727 )
Losartan therapy decreases albuminuria with stable glomerular filtration and permselectivity in sickle cell anemia. ( 28951038 )
Gum Arabic as novel anti-oxidant agent in sickle cell anemia, phase II trial. ( 28331623 )
A clinically meaningful fetal hemoglobin threshold for children with sickle cell anemia during hydroxyurea therapy. ( 28913922 )
Relationship between zinc levels and anthropometric indices among school-aged female children with sickle cell anemia in enugu, Nigeria. ( 29303133 )
Doppler velocimetry of the orbital arteries in patients with sickle cell anemia: relationship with biomarkers of hemolysis. ( 28428653 )
Whole-exome sequencing for<i>RH</i>genotyping and alloimmunization risk in children with sickle cell anemia. ( 29296782 )
Towards a point-of-care strip test to diagnose sickle cell anemia. ( 28520780 )
Red blood cell transfusions during sickle cell anemia vaso-occlusive crises: a report from the magnesium in crisis (MAGiC) study. ( 28500682 )
Sickle cell anemia in sub-Saharan Africa: advancing the clinical paradigm through partnerships and research. ( 27821508 )
Differences of microparticle patterns between sickle cell anemia and hemoglobin SC patients. ( 28489923 )
Measurements of red cell deformability and hydration reflect HbF and HbA2 in blood from patients with sickle cell anemia. ( 28472705 )
Prevalence and determinants of microalbuminuria in children suffering from sickle cell anemia in steady state. ( 28852485 )
Evaluating risk factors for chronic kidney disease in pediatric patients with sickle cell anemia. ( 28382567 )
Extensive Bone Marrow Necrosis: Initial Presentation in Sickle Cell Anemia-A Case Report and Review of the Literature. ( 28695026 )
Comparison of Outcomes in Patients Having Acute Myocardial Infarction With Versus Without Sickle-Cell Anemia. ( 28867123 )
Lack of mortality in 22 children with sickle cell anemia and severe malarial anemia. ( 28834130 )
The case for HLA-identical sibling hematopoietic stem cell transplantation in children with symptomatic sickle cell anemia. ( 29296908 )
Comparative study of sickle cell anemia and hemoglobin SC disease: clinical characterization, laboratory biomarkers and genetic profiles. ( 28932402 )
DAT-positive Plasmodium ovale malaria presenting in a child with sickle cell anemia. ( 28211104 )
Red blood cell minor antigen mismatches during chronic transfusion therapy for sickle cell anemia. ( 28840600 )
Protein C and antithrombin levels in patients with sickle cell anemia in Ahmadu Bello University Teaching Hospital Zaria, Nigeria. ( 28891545 )
A comment on improving transcranial Doppler ultrasonography screening in children with sickle cell anemia. ( 28335074 )
Assessment of biochemical liver function tests in relation to age among steady state sickle cell anemia patients. ( 29303127 )

Variations for Sickle Cell Anemia

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

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

ClinVar genetic disease variations for Sickle Cell Anemia:

# 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.79G> A (p.Glu27Lys) single nucleotide variant Pathogenic,protective rs33950507 GRCh37 Chromosome 11, 5248173: 5248173
3 HBB NM_000518.4(HBB): c.364G> A (p.Glu122Lys) single nucleotide variant Pathogenic rs33946267 GRCh37 Chromosome 11, 5246908: 5246908
4 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:

# 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 18)
# Name GO ID Score Top Affiliating Genes
1 response to ethanol GO:0045471 9.75 G6PD UGT1A1 VCAM1
2 blood coagulation GO:0007596 9.73 F2 HBB HBG1 HBG2
3 response to nutrient GO:0007584 9.71 EPO UGT1A1 VCAM1
4 cellular oxidant detoxification GO:0098869 9.7 HBA1 HBA2 HBB
5 protein heterooligomerization GO:0051291 9.63 HBA1 HBA2 HBB
6 response to hydrogen peroxide GO:0042542 9.58 HBA1 HBA2 HBB
7 leukocyte tethering or rolling GO:0050901 9.57 TNF VCAM1
8 cellular glucuronidation GO:0052695 9.56 UGT1A1 UGT1A6
9 erythrocyte maturation GO:0043249 9.55 EPO G6PD
10 response to salt stress GO:0009651 9.51 EPO TNF
11 positive regulation of cell death GO:0010942 9.5 HBA1 HBA2 HBB
12 flavonoid glucuronidation GO:0052696 9.49 UGT1A1 UGT1A6
13 xenobiotic glucuronidation GO:0052697 9.48 UGT1A1 UGT1A6
14 bicarbonate transport GO:0015701 9.43 HBA1 HBA2 HBB
15 regulation of immunoglobulin secretion GO:0051023 9.37 CD40LG TNF
16 acute-phase response GO:0006953 9.33 EPO F2 UGT1A1
17 hydrogen peroxide catabolic process GO:0042744 9.13 HBA1 HBA2 HBB
18 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 for Sickle Cell Anemia

9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
51 Novoseek
54 OMIM via Orphanet
58 PubMed
66 SNOMED-CT via Orphanet
68 Tocris
70 UMLS via Orphanet
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