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SKCA
MCID: SCK003
MIFTS: 74

Sickle Cell Anemia (SKCA)

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

Aliases & Classifications for Sickle Cell Anemia

About this section

MalaCards integrated aliases for Sickle Cell Anemia:

Name: Sickle Cell Anemia 56 12 74 74 52 58 73 36 13 15 37 62
Hemoglobin Sc Disease 12 74 52 43 17 71
Anemia, Sickle Cell 43 39 71
Sickle Cell-Hemoglobin C Disease Syndrome 52 58
Sickle Cell Disease 58 73
Hbsc Disease 52 58
Sickle-Cell/hb-C Disease Without Crisis 12
Sickling Disorder Due to Hemoglobin S 52
Hemoglobin S Disease Without Crisis 12
Sickle Cell - Hemoglobin C Disease 52
Sickle Cell-Hemoglobin C Disease 29
Hb-Ss Disease Without Crisis 12
Haemoglobin Sc Disease 12
Hemoglobin S Disease 52
Sickle Cell Anaemia 12
Hb-S/hb-C Disease 12
Sickle Cell Trait 71
Drepanocytosis 12
Hb Sc Disease 12
Hbs Disease 52
Skca 73

Characteristics:

Orphanet epidemiological data:

58
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:

56
Inheritance:
autosomal recessive

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


HPO:

31
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: 32 33
Orphanet: 58  
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 : 52 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 anemia, x-linked, with or without neutropenia and/or platelet abnormalities, and has symptoms including edema, abdominal pain and chest pain. An important gene associated with Sickle Cell Anemia is HBB (Hemoglobin Subunit Beta), and among its related pathways/superpathways are Folate Metabolism and Interleukin-4 and 13 signaling. The drugs Artesunate and Peginterferon alfa-2a have been mentioned in the context of this disorder. Affiliated tissues include Blood, bone and bone marrow, and related phenotypes are chronic hemolytic anemia and recurrent infections

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

OMIM : 56 Sickle cell anemia is a multisystem disease associated with episodes of acute illness and progressive organ damage. Hemoglobin polymerization, leading to erythrocyte rigidity and vasoocclusion, is central to the pathophysiology of the disease, but the importance of chronic anemia, hemolysis, and vasculopathy has been established. The most common cause of sickle cell anemia is the HbS variant (141900.0243), with hemoglobin SS disease being most prevalent in Africans (review by Rees et al., 2010). See review of infection in sickle cell disease by Booth et al. (2010). Piel et al. (2017) reviewed the genetic and nongenetic modifiers of the severity of sickle cell disease. (603903)

KEGG : 36 Sickle cell anaemia (SCA) is a recessive genetic disease caused by a single-point mutation in the beta globin gene in codon 6 (Glu6Val) that specifies one of the chains of haemoglobin. The disease is characterized by a chronic haemolytic anaemia with the sickle cells which show abnormal morphology due to the damage of the membrane skeletons and agglutinate under deoxygenated conditions.

UniProtKB/Swiss-Prot : 73 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 : 62 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 : 74 Sickle cell disease (SCD) is a group of blood disorders typically inherited from a person's parents. The... more...

Sources

Related Diseases for Sickle Cell Anemia

About this section

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

(show top 50) (show all 1069)
# Related Disease Score Top Affiliating Genes
1 acute chest syndrome 32.9 VCAM1 HMOX1 HBB HBA2 G6PD CD40LG
2 anemia, x-linked, with or without neutropenia and/or platelet abnormalities 32.6 HBB HBA2 G6PD EPO ALB
3 deficiency anemia 32.6 TNF HMOX1 HBS1L HBG2 HBB HBA2
4 splenic sequestration 31.8 HBB EPO CD40LG
5 sickle cell disease 31.6 VCAM1 HBS1L HBG2 HBG1 HBB HBA2
6 cholelithiasis 31.6 UGT1A1 HBB CD40LG ALB
7 iron metabolism disease 31.4 HBB HBA2 G6PD EPO
8 thalassemia 31.2 UGT1A1 HBS1L HBG2 HBG1 HBB HBA2
9 glucosephosphate dehydrogenase deficiency 31.2 UGT1A1 HBG2 HBB G6PD
10 hemoglobinopathy 31.2 VCAM1 UGT1A1 HBG1 HBB HBA2 HBA1
11 fetal hemoglobin quantitative trait locus 1 31.1 HBG2 HBG1 HBB
12 sleep apnea 31.0 VCAM1 TNF EPO ALB
13 iron deficiency anemia 31.0 TNF HBG2 HBA1 G6PD EPO
14 splenic infarction 31.0 HBB CD40LG ALB
15 erythroleukemia, familial 30.9 HBG1 HBB EPO
16 pulmonary edema 30.9 TNF HMOX1 EPO
17 acute cystitis 30.8 TNF CD40LG ALB
18 neutropenia 30.8 UGT1A1 TNF EPO CD40LG ALB
19 beta-thalassemia 30.8 UGT1A1 HBS1L HBG2 HBG1 HBB HBA2
20 rheumatic fever 30.8 TNF CD40LG ALB
21 splenic abscess 30.8 CD40LG ALB
22 gilbert syndrome 30.8 UGT1A1 HMOX1 G6PD ALB
23 vascular disease 30.7 VCAM1 TNF HMOX1 EPO CD40LG ALB
24 lung disease 30.7 TNF HMOX1 CD40LG CCR5 ALB
25 hemochromatosis, type 1 30.7 HMOX1 HBS1L HBB HBA2 HBA1
26 secondary progressive multiple sclerosis 30.7 CD40LG CCR5 ALB
27 exanthem 30.7 TNF CD40LG ALB
28 plasmodium falciparum malaria 30.7 TNF HBB G6PD CD40LG ALB
29 optic neuritis 30.6 VCAM1 TNF CCR5
30 polycythemia 30.6 HBB HBA2 EPO
31 bronchopneumonia 30.6 TNF CD40LG ALB
32 bilirubin metabolic disorder 30.6 UGT1A1 HMOX1 HBG2 G6PD CD40LG ALB
33 pneumonia 30.6 TNF HMOX1 CD40LG ALB
34 alpha-thalassemia 30.5 VCAM1 UGT1A1 TNF HBS1L HBG2 HBG1
35 hereditary spherocytosis 30.5 UGT1A1 HBG2 HBG1 HBB G6PD BCL11A
36 hydrops fetalis, nonimmune 30.5 HBB HBA2 HBA1
37 respiratory failure 30.5 TNF G6PD EPO CD40LG ALB
38 cholangitis 30.5 TNF CD40LG CCR5 ALB
39 hypochromic microcytic anemia 30.5 HBB HBA2 HBA1
40 antiphospholipid syndrome 30.5 VCAM1 TNF CD40LG
41 hereditary persistence of fetal hemoglobin-sickle cell disease syndrome 30.5 HBG2 HBG1 HBB BCL11A
42 bacterial pneumonia 30.5 TNF CD40LG ALB
43 hemolytic anemia 30.5 UGT1A1 TNF HMOX1 HBG2 HBG1 HBB
44 chronic kidney disease 30.5 VCAM1 TNF HMOX1 EPO CCR5 ALB
45 neonatal jaundice 30.5 UGT1A1 TNF HMOX1 G6PD
46 endocarditis 30.5 VCAM1 TNF ALB
47 dengue hemorrhagic fever 30.5 TNF CD40LG ALB
48 cardiac arrest 30.5 HMOX1 G6PD EPO ALB
49 pre-eclampsia 30.5 VCAM1 TNF HMOX1 CD40LG ALB
50 peripheral nervous system disease 30.5 TNF EPO CD40LG ALB

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

About this section

Human phenotypes related to Sickle Cell Anemia:

58 31 (show all 40)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 chronic hemolytic anemia 58 31 obligate (100%) Obligate (100%) HP:0004870
2 recurrent infections 58 31 hallmark (90%) Very frequent (99-80%) HP:0002719
3 avascular necrosis 58 31 frequent (33%) Frequent (79-30%) HP:0010885
4 osteomyelitis 58 31 frequent (33%) Frequent (79-30%) HP:0002754
5 chest pain 58 31 frequent (33%) Frequent (79-30%) HP:0100749
6 osteoporosis 58 31 frequent (33%) Frequent (79-30%) HP:0000939
7 abnormality of the spleen 58 31 frequent (33%) Frequent (79-30%) HP:0001743
8 reticulocytosis 58 31 frequent (33%) Frequent (79-30%) HP:0001923
9 leukocytosis 58 31 frequent (33%) Frequent (79-30%) HP:0001974
10 thrombocytosis 58 31 frequent (33%) Frequent (79-30%) HP:0001894
11 iron deficiency anemia 58 31 frequent (33%) Frequent (79-30%) HP:0001891
12 pigment gallstones 58 31 frequent (33%) Frequent (79-30%) HP:0011981
13 abnormality of the nervous system 58 31 occasional (7.5%) Occasional (29-5%) HP:0000707
14 cholestasis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001396
15 hypoxemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0012418
16 persistence of hemoglobin f 58 31 occasional (7.5%) Occasional (29-5%) HP:0011904
17 unconjugated hyperbilirubinemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0008282
18 elevated serum creatinine 58 31 occasional (7.5%) Occasional (29-5%) HP:0003259
19 increased lactate dehydrogenase level 31 occasional (7.5%) HP:0025435
20 microcytic anemia 58 31 very rare (1%) Very rare (<4-1%) HP:0001935
21 increased mean corpuscular volume 58 31 very rare (1%) Very rare (<4-1%) HP:0005518
22 hemolytic anemia 58 31 Very frequent (99-80%) HP:0001878
23 splenomegaly 31 HP:0001744
24 hepatomegaly 31 HP:0002240
25 renal insufficiency 31 HP:0000083
26 retinopathy 31 HP:0000488
27 cardiomegaly 31 HP:0001640
28 hematuria 31 HP:0000790
29 abdominal pain 31 HP:0002027
30 hypertension 31 HP:0000822
31 cholelithiasis 31 HP:0001081
32 jaundice 31 HP:0000952
33 stroke 31 HP:0001297
34 abnormality of the vasculature 58 Occasional (29-5%)
35 hypochromic anemia 58 Very rare (<4-1%)
36 recurrent bacterial infections 31 HP:0002718
37 pain 58 Very frequent (99-80%)
38 increased lactate dehydrogenase activity 58 Occasional (29-5%)
39 priapism 31 HP:0200023
40 increased red cell sickling tendency 31 HP:0008346

Symptoms via clinical synopsis from OMIM:

56
Abdomen:
abdominal pain

Hematology:
hypoxemia
leukocytosis
hemolysis
sickle cell anemia
anemia, chronic

Cardiovascular Vascular:
pulmonary hypertension
vasculopathy
microcirculatory occlusion
hyperemia

Abdomen Spleen:
functional asplenia

Skeletal Limbs:
avascular joint necrosis
joint and leg pain

Neurologic Central Nervous System:
stroke
pain, secondary to vasoocclusion

Genitourinary External Genitalia Male:
priapism

Genitourinary Kidneys:
renal failure

Respiratory Lung:
acute chest syndrome

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

Clinical features from OMIM:

603903

UMLS symptoms related to Sickle Cell Anemia:


edema, abdominal pain, chest pain, angina pectoris

MGI Mouse Phenotypes related to Sickle Cell Anemia:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.36 ALB BCL11A CCR5 CD40LG EPO G6PD
Sources

Drugs & Therapeutics for Sickle Cell Anemia

About this section

PubMed Health treatment related to Sickle Cell Anemia: 62

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 407)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Artesunate Approved, Investigational Phase 4 88495-63-0 6917864 5464098
2
Peginterferon alfa-2a Approved, Investigational Phase 4 198153-51-4 5360545
3
Ribavirin Approved Phase 4 36791-04-5 37542
4
Peginterferon alfa-2b Approved Phase 4 99210-65-8, 215647-85-1
5
Deferasirox Approved, Investigational Phase 4 201530-41-8 5493381
6
Atorvastatin Approved Phase 4 134523-00-5 60823
7
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4 437-38-7 3345
8
Riociguat Approved Phase 4 625115-55-1
9
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
10
Remifentanil Approved Phase 4 132875-61-7 60815
11
Ketamine Approved, Vet_approved Phase 4 6740-88-1 3821
12
Proguanil Approved Phase 4 500-92-5 4923
13
Sulfadoxine Approved, Investigational Phase 4 2447-57-6 17134
14
Pyrimethamine Approved, Investigational, Vet_approved Phase 4 58-14-0 4993
15
Desogestrel Approved Phase 4 54024-22-5 40973
16
Etonogestrel Approved, Investigational Phase 4 54048-10-1 40976 6917715
17
Tocopherol Approved, Investigational Phase 4 1406-66-2, 54-28-4 14986
18
Amodiaquine Approved, Investigational Phase 4 86-42-0 2165
19
Deferiprone Approved Phase 4 30652-11-0 2972
20
tannic acid Approved Phase 4 1401-55-4
21
Benzocaine Approved, Investigational Phase 4 94-09-7, 1994-09-7 2337
22
Ketorolac Approved Phase 4 66635-83-4, 74103-06-3 3826
23
Ibuprofen Approved Phase 4 15687-27-1 3672
24
Vitamin E Approved, Nutraceutical, Vet_approved Phase 4 59-02-9 14985
25
Ergocalciferol Approved, Nutraceutical Phase 4 50-14-6 5280793
26
Vitamin D3 Approved, Nutraceutical Phase 4 67-97-0 5280795 6221
27
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
28
Calcifediol Approved, Nutraceutical Phase 4 19356-17-3 5283731 6433735
29 Tocotrienol Investigational Phase 4 6829-55-6
30
Dihydroartemisinin Experimental, Investigational Phase 4 71939-50-9 6918483
31
Piperaquine Experimental, Investigational Phase 4 4085-31-8 5079497
32 Anthelmintics Phase 4
33 Amodiaquine, artesunate drug combination Phase 4
34 Interferon alpha-2 Phase 4
35 interferons Phase 4
36 Interferon-alpha Phase 4
37 Anti-Arrhythmia Agents Phase 4
38 Tocolytic Agents Phase 4
39 Anticonvulsants Phase 4
40 calcium channel blockers Phase 4
41 Hypolipidemic Agents Phase 4
42 Lipid Regulating Agents Phase 4
43 Sodium Channel Blockers Phase 4
44 Diuretics, Potassium Sparing Phase 4
45 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4
46 Anticholesteremic Agents Phase 4
47 Anesthetics, Local Phase 4
48 Anesthetics Phase 4
49 Anesthetics, General Phase 4
50 Anesthetics, Intravenous Phase 4

Interventional clinical trials:

(show top 50) (show all 878)
# Name Status NCT ID Phase Drugs
1 Effect of Mobile-Directly Observed Therapy (DOT) on Adherence to Hydroxyurea Treatment in Adult HbSS Patients at Muhimbili National Hospital (MNH) in Tanzania: a Pilot Study Unknown status NCT02844673 Phase 4 Hydroxyurea
2 A Randomized, Double Blind Trial on the Efficacy and Safety of Amodiaquine-Artesunate and Amodiaquine Alone in the Treatment of Children With Uncomplicated Falciparum Malaria Unknown status NCT00238017 Phase 4 amodiaquine-artesunate versus amodiaquine
3 Phase IV Study of Effectiveness of Interferon and Ribavirin Treatment in Thalassemia Major Patients With Chronic Viral Hepatitis C Unknown status NCT00887081 Phase 4 PEG-IFN alpha2a or PEG-IFN alpha2b and Ribavirin
4 Does IV Acetaminophen Reduce Opioid Requirement in Pediatric Emergency Department Patients With Acute Sickle Cell Crises? Completed NCT03541980 Phase 4 Acetaminophen;Normal saline
5 Future of Spermatogenesis in Men With Sickle Cell Disease Medically Treated. Completed NCT01609192 Phase 4 Hydrea® (hydroxyurea )
6 Evaluation of the Impact of Renal Function on the Pharmacokinetics of Hydroxyurea (SIKLOS ®) in Normal-renal Function, Hyperfiltrating and Renal Failure Sickle Cell Disease Patients (DARH) Completed NCT02522104 Phase 4 Siklos
7 Intranasal Fentanyl Versus Intravenous Morphine in the Emergency Department Treatment of Severe Painful Sickle Cell Crises in Children Completed NCT03682211 Phase 4 Fentanyl Citrate;Morphine sulphate
8 Intranasal Fentanyl for Initial Treatment of a Vaso-occlusive Crisis: A Randomized, Double Blind Placebo Controlled Trial Completed NCT01482091 Phase 4 Fentanyl Citrate;Normal Saline
9 Rejuvesol® Washed RBC in Sickle Cell Patients Requiring Frequent Transfusions Completed NCT02731157 Phase 4 Rejuvesol
10 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)
11 Pilot Pharmacokinetic Study In Patients With Inadequate Response To Deferasirox (Exjade) Completed NCT00749515 Phase 4 Deferoxamine;Deferasirox
12 Low-dose Ketamine Versus Morphine for Severe Painful Sickle Cell Crises in Children at Mulago Hospital: A Randomised Controlled Trial Completed NCT02434939 Phase 4 Low dose ketamine;Morphine
13 Effect of Intravenous Infusion of Lidocaine, Magnesium Sulphate and Remifentanil Perioperatively in Patients Undergoing Mastectomy: a Prospective, Randomized and Double-blind Study Completed NCT02309879 Phase 4 Remifentanil infusion;Lidocaine infusion;Magnesium sulphate infusion;Magnesium sulphate and Lidocaine infusion
14 A Randomised Controlled Trial of Atorvastatin as an Anti-Inflammatory Agent in Non-Cystic Fibrosis Bronchiectasis Completed NCT01299181 Phase 4 Atorvastatin
15 A Randomised Controlled Trial of Atorvastatin as an Anti-Inflammatory Agent in Non-Cystic Fibrosis Bronchiectasis in Patients With Pseudomonas Aeruginosa Completed NCT01299194 Phase 4 ATORVASTATIN
16 The Effect of Riociguat on Gas Exchange, Exercise Performance, and Pulmonary Artery Pressure During Acute Altitude Exposure Completed NCT02024386 Phase 4 Riociguat
17 The Efficacy and Safety of Ferriprox® for the Treatment of Transfusional Iron Overload in Patients With Sickle Cell Disease or Other Anemias Recruiting NCT02041299 Phase 4 Deferiprone;Deferoxamine
18 Comparison of Nebulized Sub-dissociative Dose Ketamine at Three Different Dosing Regimens for Treating Acute Pain in the Pediatric ED: A Prospective, Randomized Double-Blind Trial Recruiting NCT03950817 Phase 4 Nebulized Sub-dissociative Dose Ketamine at either 0.75 mg/kg;Nebulized Sub-dissociative Dose Ketamine at 1 mg/kg;Nebulized Sub-dissociative Dose Ketamine at 1.5 mg/kg.
19 Risk Stratification for Clinical Severity of Sickle Cell Disease in Nigeria and Assessment of Efficacy and Safety During Treatment With Hydroxyurea Active, not recruiting NCT02149537 Phase 4 hydroxyurea
20 Use of Etonogestrel-releasing Contraceptive Implant in Women With Sickle Cell Disease Active, not recruiting NCT02594462 Phase 4 etonogestrel-releasing implant contraceptive
21 Endothelial Monocyte-activating Polypeptide-II as an Endothelial Dysfunction Marker and Its Relation to the Oxidative Stress in Egyptian Sickle Patients Active, not recruiting NCT03903133 Phase 4 Vitamin E
22 Enhancing Preventive Therapy of Malaria In Children With Sickle Cell Anemia in East Africa (EPiTOMISE) Active, not recruiting NCT03178643 Phase 4 Proguanil Oral Tablet;Sulfadoxine/Pyrimethanine-Amodiaquine (SP-AQ);Dihydroartemisinin-Piperaquine (DP)
23 Long-term Safety and Efficacy Study of Ferriprox® for the Treatment of Transfusional Iron Overload in Patients With Sickle Cell Disease or Other Anemias Enrolling by invitation NCT02443545 Phase 4 Deferiprone
24 A Randomized Phase IV Control Trial of Single High Dose Oral Vitamin D3 (Stoss Therapy) in Pediatric Patients Undergoing HSCT to Prevent Vitamin D Deficiency and Insufficiency During Transplant Enrolling by invitation NCT03176849 Phase 4
25 Desmopressin as a Therapy for Nocturnal Enuresis in Pediatric Patients With Sickle Cell Disease Not yet recruiting NCT04420585 Phase 4 Desmopressin
26 A Phase 4, Multicenter, Open-label Study to Evaluate the Treatment Effect of Voxelotor on Physical Activity in Adolescents and Adults With Sickle Cell Disease Not yet recruiting NCT04400487 Phase 4 Voxelotor
27 Early Low-dose Ketamine Infusion Versus Usual Care for Sickle Cell Pain Crisis: a Randomized, Prospective Study. Not yet recruiting NCT04005209 Phase 4 Ketamine
28 Low Dose Ketamine for Acute Pain Crisis in Patients With Sickle Cell Disease Not yet recruiting NCT04330183 Phase 4 Ketamine;Normal Saline
29 Ketorolac Versus Ibuprofen for the Painful Crisis of Sickle Cell Disease - Southwestern Comprehensive Sickle Cell Center Terminated NCT00115336 Phase 4 Intravenous Ketorolac;Ibuprofen
30 An Open, Multicenter Clinical Trial to Investigate the Immunogenicity and Safety of the Pneumococcal 7-Valent Conjugate Vaccine (PREVENAR) in Sickle Cell Disease Infants. Terminated NCT00368186 Phase 4
31 An Evaluation of the Effectiveness of Ibuprofen and Opioid (Morphine or Diamorphine) for Acute Pain in Sickle Cell Disease: a Double-blind, Placebo-controlled Randomised Trial Terminated NCT00880373 Phase 4 Ibuprofen;Placebo;Diamorphine or Morphine
32 A Pilot Study on the Effects of Intravenous Ketamine on Acute Pain Crisis in Patients With Sickle Cell Disease Terminated NCT00252122 Phase 4 Ketamine
33 A Pilot Study on the Impact of Rejuvenated Autologous Blood Transfusion on VO2 Max in Healthy Subjects Terminated NCT03089047 Phase 4
34 Endothelial Function in Patients With Sickle Cell Anemia Before and After Sildenafil Withdrawn NCT00937144 Phase 4 Viagra (Sildenafil);placebo
35 Non-Invasive Assessment of Opioid Analgesia in Children With Sickle Cell Disease Withdrawn NCT00513864 Phase 4 Dextromethorphan;Codeine;Morphine
36 A Randomized, Controlled Trial of Autologous Platelet Gel Treatment in Diabetic Foot Ulcers Withdrawn NCT00338702 Phase 4
37 Transfusion Alternatives Pre-Operatively in Sickle Cell Disease Unknown status NCT00512577 Phase 3
38 Omega 3 Fatty Acid Therapy for Prevention of Vaso-occlusive Crisis and Manifestations in Omani Patients With Sickle Cell Disease Unknown status NCT02525107 Phase 3
39 Ketamine as an Adjuvant Therapy for Acute Vaso Occlusive Crisis in Pediatric Patients With Sickle Cell Disease, a Pilot Study Unknown status NCT02801292 Phase 3 Ketamine
40 Development of a Ready-to-use Nutraceutical Food for Patients With Sickle Cell Disease (SCD): Testing of Vascular Support Components Unknown status NCT01718054 Phase 2, Phase 3 Chloroquine
41 A Prospective Randomized Comparative Study of Efficacy and Safety of Combined Deferiprone (DFP) and Deferasirox Versus DFP and Desferrioxamine (DFO) Therapy in Diseases With Severe Iron Overload Unknown status NCT01511848 Phase 2, Phase 3 DFP (ferriprox) and deferasirox (ICL 670);DFP, DFO
42 A Prospective, Randomized, Double-blind, Placebo Controlled, Multi-national Study of Therapeutic Anticoagulation Strategy for Acute Chest Syndrome in Adults Unknown status NCT02580773 Phase 3 Prophylactic anticoagulation ( INNOHEP®);Curative anticoagulation ( INNOHEP®)
43 Malaria Chemoprevention With Monthly Treatment With Dihydroartemisinin-Piperaquine for the Post-discharge Management of Severe Anaemia in Children Less Than 5 Years in Malawi Unknown status NCT02721420 Phase 3 dihydroartemisinin-piperaquine
44 Phase III Randomized Study of Poloxamer 188 for Vaso-Occlusive Crisis of Sickle Cell Disease Completed NCT00004408 Phase 3 poloxamer 188
45 Presumptive Treatment With Sulfadoxine- Pyrimethamine Versus Weekly Chloroquine for Malaria Prophylaxis in Children With Sickle Cell Anemia Completed NCT00399074 Phase 3 sulfadoxine pyrimethamine
46 MAST - Magnesium for Sickle Cell Acute Crisis in Children Completed NCT00313963 Phase 3 Magnesium Sulfate;Normal Saline
47 A Phase 3, Multicenter ,Randomized, Double-Blind, Placebo-Controlled, Parallel-Group Study to Evaluate the Efficacy and Safety of Rivipansel (GMI-1070) in the Treatment of Vaso-Occlusive Crisis in Hospitalized Subjects With Sickle Cell Disease Completed NCT02187003 Phase 3 Rivipansel
48 N-Acetylcysteine in Patients With Sickle Cell Disease - Reducing the Incidence of Daily Life Pain Completed NCT01849016 Phase 3 N-Acetylcysteine;Placebo
49 Penicillin Prophylaxis in Sickle Cell Disease (PROPS) Completed NCT00000585 Phase 3 penicillin
50 Pediatric Hydroxyurea Phase III Clinical Trial (BABY HUG) Completed NCT00006400 Phase 3 Hydroxyurea;Placebo

Search NIH Clinical Center for Sickle Cell Anemia

Inferred drug relations via UMLS 71 / NDF-RT 50 :


Sodium phenylbutyrate

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Sickle Cell Anemia cell therapies at LifeMap Discovery.
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, umbilical cord blood-derived stem/progenitor cells for hemotological diseases
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: hemoglobin sc disease

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Genetic Tests for Sickle Cell Anemia

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Genetic tests related to Sickle Cell Anemia:

# Genetic test Affiliating Genes
1 Sickle Cell-Hemoglobin C Disease 29
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Anatomical Context for Sickle Cell Anemia

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MalaCards organs/tissues related to Sickle Cell Anemia:

40
Bone, Bone Marrow, Endothelial, Testes, Liver, Kidney, T Cells
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

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

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Articles related to Sickle Cell Anemia:

(show top 50) (show all 6070)
# Title Authors PMID Year
1
Management of sickle cell disease: summary of the 2014 evidence-based report by expert panel members. 61 56 6
25203083 2014
2
Mortality in sickle cell disease. Life expectancy and risk factors for early death. 56 61 6
7993409 1994
3
Elderly survivors with homozygous sickle cell disease. 6 56
17287491 2007
4
Relatively benign sickle-cell anaemia in 60 patients aged over 30 in the West Indies. 56 6
4232783 1968
5
A Phase 3 Randomized Trial of Voxelotor in Sickle Cell Disease. 61 56
31199090 2019
6
Hydroxyurea for Children with Sickle Cell Anemia in Sub-Saharan Africa. 61 56
30501550 2019
7
A Phase 3 Trial of l-Glutamine in Sickle Cell Disease. 56 61
30021096 2018
8
Fine-mapping at three loci known to affect fetal hemoglobin levels explains additional genetic variation. 61 56
21057501 2010
9
Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia. 56 61
18245381 2008
10
Treatment of sickle cell anemia mouse model with iPS cells generated from autologous skin. 61 56
18063756 2007
11
Genetic dissection and prognostic modeling of overt stroke in sickle cell anemia. 61 56
15778708 2005
12
Impaired vasodilation by red blood cells in sickle cell disease. 61 56
15699345 2005
13
Arginine supplementation of sickle transgenic mice reduces red cell density and Gardos channel activity. 6 61
11830454 2002
14
Molecular analysis of the beta-globin gene cluster in the Niokholo Mandenka population reveals a recent origin of the beta(S) Senegal mutation. 61 6
11741197 2002
15
Monoclonal antibodies to alphaVbeta3 (7E3 and LM609) inhibit sickle red blood cell-endothelium interactions induced by platelet-activating factor. 61 56
10627437 2000
16
First unaffected pregnancy using preimplantation genetic diagnosis for sickle cell anemia. 61 56
10328069 1999
17
Transgenic knockout mice exclusively expressing human hemoglobin S after transfer of a 240-kb betas-globin yeast artificial chromosome: A mouse model of sickle cell anemia. 56 61
9843985 1998
18
Ribozyme-mediated repair of sickle beta-globin mRNAs in erythrocyte precursors. 56 61
9616120 1998
19
Hydroxyurea and sickle cell anemia. Clinical utility of a myelosuppressive "switching" agent. The Multicenter Study of Hydroxyurea in Sickle Cell Anemia. 56 61
8982148 1996
20
Sickle cell anemia in septuagenarians. 61 56
7579371 1995
21
Effect of hydroxyurea on the frequency of painful crises in sickle cell anemia. Investigators of the Multicenter Study of Hydroxyurea in Sickle Cell Anemia. 56 61
7715639 1995
22
Fatal pneumococcal septicemia in hemoglobin SC disease. 56 61
8201467 1994
23
Sequence of the -530 region of the beta-globin gene of sickle cell anemia patients with the Arabian haplotype. 6 61
8199597 1994
24
Augmentation by erythropoietin of the fetal-hemoglobin response to hydroxyurea in sickle cell disease. 56 61
7677965 1993
25
A short-term trial of butyrate to stimulate fetal-globin-gene expression in the beta-globin disorders. 61 56
7677966 1993
26
Herrick's 1910 case report of sickle cell anemia. The rest of the story. 61 56
2642320 1989
27
Structural analysis of the 5' flanking region of the beta-globin gene in African sickle cell anemia patients: further evidence for three origins of the sickle cell mutation in Africa. 61 6
2898142 1988
28
Beta S gene in Sicily is in linkage disequilibrium with the Benin haplotype: implications for gene flow. 61 6
2893541 1988
29
Rapid prenatal diagnosis of sickle cell anemia by a new method of DNA analysis. 61 6
3821796 1987
30
Hydroxyurea induction of hemoglobin F production in sickle cell disease: relationship between cytotoxicity and F cell production. 61 56
2418898 1986
31
Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia. 56 61
2999980 1985
32
Developmental pattern of splenic dysfunction in sickle cell disorders. 56 61
2412200 1985
33
Hematologically and genetically distinct forms of sickle cell anemia in Africa. The Senegal type and the Benin type. 61 6
2579336 1985
34
Evidence for the multicentric origin of the sickle cell hemoglobin gene in Africa. 61 6
6584911 1984
35
Treatment of sickle cell anemia with 5-azacytidine results in increased fetal hemoglobin production and is associated with nonrandom hypomethylation of DNA around the gamma-delta-beta-globin gene complex. 61 56
6192443 1983
36
Clinical, hematological, and biochemical features of Hb SC disease. 61 56
7137165 1982
37
Use of restriction endonucleases for mapping the allele for beta s-globin. 61 6
6285354 1982
38
Direct identification of sickle cell anemia by blot hybridization. 6 61
6272289 1981
39
Sickle Cell Disease. 56
28423290 2017
40
EMQN Best Practice Guidelines for molecular and haematology methods for carrier identification and prenatal diagnosis of the haemoglobinopathies. 6
25052315 2015
41
Guidelines for the primary prevention of stroke: a statement for healthcare professionals from the American Heart Association/American Stroke Association. 6
25355838 2014
42
Sickle cell disease incidence among newborns in New York State by maternal race/ethnicity and nativity. 56
23018751 2013
43
An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals. 56
22975760 2013
44
Hemoglobins S and C interfere with actin remodeling in Plasmodium falciparum-infected erythrocytes. 6
22075726 2011
45
Correction of sickle cell disease in adult mice by interference with fetal hemoglobin silencing. 56
21998251 2011
46
Sickle hemoglobin confers tolerance to Plasmodium infection. 6
21529713 2011
47
Sickle-cell disease. 56
21131035 2010
48
The inherited diseases of hemoglobin are an emerging global health burden. 56
20233970 2010
49
Genetic variation in human HBB is associated with Plasmodium falciparum transmission. 6
20305663 2010
50
Infection in sickle cell disease: a review. 56
19497774 2010
Sources

Variations for Sickle Cell Anemia

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ClinVar genetic disease variations for Sickle Cell Anemia:

6 (show top 50) (show all 56) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 HBB NM_000518.4(HBB):c.19G>A (p.Glu7Lys)SNV Pathogenic 15126 rs33930165 11:5248233-5248233 11:5227003-5227003
2 HBB NM_000518.5(HBB):c.79G>A (p.Glu27Lys)SNV Pathogenic 15161 rs33950507 11:5248173-5248173 11:5226943-5226943
3 HBB NM_000518.4(HBB):c.92G>C (p.Arg31Thr)SNV Pathogenic 15234 rs33960103 11:5248160-5248160 11:5226930-5226930
4 HBB NM_000518.4(HBB):c.364G>A (p.Glu122Lys)SNV Pathogenic 15292 rs33946267 11:5246908-5246908 11:5225678-5225678
5 HBB NM_000518.4(HBB):c.332T>C (p.Leu111Pro)SNV Pathogenic 15352 rs35256489 11:5246940-5246940 11:5225710-5225710
6 HBB NM_000518.5(HBB):c.52A>T (p.Lys18Ter)SNV Pathogenic 15401 rs33986703 11:5248200-5248200 11:5226970-5226970
7 HBB NM_000518.5(HBB):c.118C>T (p.Gln40Ter)SNV Pathogenic 15402 rs11549407 11:5248004-5248004 11:5226774-5226774
8 HBB NM_000518.5(HBB):c.47G>A (p.Trp16Ter)SNV Pathogenic 15403 rs63750783 11:5248205-5248205 11:5226975-5226975
9 HBB NM_000518.5(HBB):c.364G>T (p.Glu122Ter)SNV Pathogenic 15404 rs33946267 11:5246908-5246908 11:5225678-5225678
10 HBB NM_000518.5(HBB):c.130G>T (p.Glu44Ter)SNV Pathogenic 15406 rs33922842 11:5247992-5247992 11:5226762-5226762
11 HBB NM_000518.5(HBB):c.25_26del (p.Lys9fs)deletion Pathogenic 15413 rs35497102 11:5248226-5248227 11:5226996-5226997
12 HBB NM_000518.5(HBB):c.20del (p.Glu7fs)deletion Pathogenic 15418 rs63749819 11:5248232-5248232 11:5227002-5227002
13 HBB NM_000518.5(HBB):c.17_18del (p.Pro6fs)deletion Pathogenic 15422 rs34889882 11:5248234-5248235 11:5227004-5227005
14 HBB NM_000518.5(HBB):c.112del (p.Trp38fs)deletion Pathogenic 15431 rs63750532 11:5248010-5248010 11:5226780-5226780
15 HBB NM_000518.5(HBB):c.2T>G (p.Met1Arg)SNV Pathogenic 15434 rs33941849 11:5248250-5248250 11:5227020-5227020
16 HBB NM_000518.5(HBB):c.92+1G>ASNV Pathogenic 15436 rs33971440 11:5248159-5248159 11:5226929-5226929
17 HBB NM_000518.5(HBB):c.315+1G>ASNV Pathogenic 15438 rs33945777 11:5247806-5247806 11:5226576-5226576
18 HBB NM_000518.5(HBB):c.92+5G>CSNV Pathogenic 15447 rs33915217 11:5248155-5248155 11:5226925-5226925
19 HBB NM_000518.5(HBB):c.93-21G>ASNV Pathogenic 15454 rs35004220 11:5248050-5248050 11:5226820-5226820
20 HBB NM_000518.5(HBB):c.316-106C>GSNV Pathogenic 15457 rs34690599 11:5247062-5247062 11:5225832-5225832
21 HBB NM_000518.5(HBB):c.316-197C>TSNV Pathogenic 15458 rs34451549 11:5247153-5247153 11:5225923-5225923
22 HBB NM_000518.5(HBB):c.-79A>GSNV Pathogenic 15469 rs34598529 11:5248330-5248330 11:5227100-5227100
23 HBB NM_000518.5(HBB):c.-78A>CSNV Pathogenic 15470 rs33931746 11:5248329-5248329 11:5227099-5227099
24 HBB NM_000518.5(HBB):c.316-2A>GSNV Pathogenic 21191 rs33914668 11:5246958-5246958 11:5225728-5225728
25 HBB NM_000518.5(HBB):c.-137C>TSNV Pathogenic 36287 rs33941377 11:5248388-5248388 11:5227158-5227158
26 HBB NM_000518.4(HBB):c.27dupG (p.Ser10Valfs*14)duplication Pathogenic 36308 rs35699606 11:5248224-5248225 11:5226994-5226995
27 HBB NM_000518.5(HBB):c.*110T>CSNV Pathogenic 36332 rs33978907 11:5246718-5246718 11:5225488-5225488
28 HBB NM_000518.5(HBB):c.75T>A (p.Gly25=)SNV Pathogenic/Likely pathogenic 15459 rs33951465 11:5248177-5248177 11:5226947-5226947
29 HBB NM_000518.5(HBB):c.-78A>GSNV Pathogenic/Likely pathogenic 15471 rs33931746 11:5248329-5248329 11:5227099-5227099
30 HBB NM_000518.5(HBB):c.-137C>ASNV Pathogenic/Likely pathogenic 36285 rs33941377 11:5248388-5248388 11:5227158-5227158
31 HBB NM_000518.5(HBB):c.92+1G>TSNV Pathogenic/Likely pathogenic 15437 rs33971440 11:5248159-5248159 11:5226929-5226929
32 HBB NM_000518.5(HBB):c.85dup (p.Leu29fs)duplication Pathogenic/Likely pathogenic 15432 rs35532010 11:5248166-5248167 11:5226936-5226937
33 HBB NM_000518.4(HBB):c.126_129delCTTT (p.Phe42fs)deletion Pathogenic/Likely pathogenic 15417 rs80356821 11:5247993-5247996 11:5226763-5226766
34 HBB NM_000518.5(HBB):c.82G>T (p.Ala28Ser)SNV Pathogenic/Likely pathogenic 15239 rs35424040 11:5248170-5248170 11:5226940-5226940
35 HBB NM_000518.5(HBB):c.-138C>ASNV Pathogenic/Likely pathogenic 393701 rs33944208 11:5248389-5248389 11:5227159-5227159
36 HBB NM_000518.5(HBB):c.316-7C>ASNV Pathogenic/Likely pathogenic 551906 rs34483965 11:5246963-5246963 11:5225733-5225733
37 HBB NM_000518.5(HBB):c.274C>T (p.Leu92=)SNV Conflicting interpretations of pathogenicity 439144 rs769583496 11:5247848-5247848 11:5226618-5226618
38 HBB NM_000518.5(HBB):c.294C>T (p.His98=)SNV Conflicting interpretations of pathogenicity 439783 rs34515413 11:5247828-5247828 11:5226598-5226598
39 HBB NM_000518.5(HBB):c.246C>A (p.Leu82=)SNV Conflicting interpretations of pathogenicity 439778 rs145669504 11:5247876-5247876 11:5226646-5226646
40 HBB NM_000518.5(HBB):c.389C>T (p.Ala130Val)SNV Conflicting interpretations of pathogenicity 15245 rs111645889 11:5246883-5246883 11:5225653-5225653
41 HBB NM_000518.5(HBB):c.20A>T (p.Glu7Val)SNV Conflicting interpretations of pathogenicity 15333 rs334 11:5248232-5248232 11:5227002-5227002
42 HBB NM_000518.4(HBB):c.208G>A (p.Gly70Ser)SNV Conflicting interpretations of pathogenicity 15138 rs33947415 11:5247914-5247914 11:5226684-5226684
43 HBB NM_000518.4(HBB):c.364G>C (p.Glu122Gln)SNV Conflicting interpretations of pathogenicity 15152 rs33946267 11:5246908-5246908 11:5225678-5225678
44 HBB NM_000518.5(HBB):c.92+6T>CSNV Conflicting interpretations of pathogenicity 15450 rs35724775 11:5248154-5248154 11:5226924-5226924
45 HBB NM_000518.4(HBB):c.410G>A (p.Gly137Asp)SNV Conflicting interpretations of pathogenicity 15202 rs33949486 11:5246862-5246862 11:5225632-5225632
46 HBB NM_000518.5(HBB):c.-106G>CSNV Conflicting interpretations of pathogenicity 36281 rs63750681 11:5248357-5248357 11:5227127-5227127
47 HBB NM_000518.5(HBB):c.324C>T (p.Gly108=)SNV Conflicting interpretations of pathogenicity 36322 rs193922562 11:5246948-5246948 11:5225718-5225718
48 HBB NM_000518.5(HBB):c.402G>C (p.Val134=)SNV Conflicting interpretations of pathogenicity 36327 rs113082294 11:5246870-5246870 11:5225640-5225640
49 HBB NM_000518.5(HBB):c.-31C>TSNV Conflicting interpretations of pathogenicity 36291 rs63750628 11:5248282-5248282 11:5227052-5227052
50 HBB NM_000518.5(HBB):c.*56A>TSNV Uncertain significance 305000 rs537944366 11:5246772-5246772 11:5225542-5225542

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

73
# Symbol AA change Variation ID SNP ID
1 HBB p.Glu7Val VAR_002863 rs334

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Expression for Sickle Cell Anemia

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Search GEO for disease gene expression data for Sickle Cell Anemia.
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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
Folate Metabolism 1
Show member pathways
 12.04 TNF HBB HBA1 ALB
2
Interleukin-4 and 13 signaling 65
11.61 VCAM1 TNF NANOG HMOX1
3
Binding and Uptake of Ligands by Scavenger Receptors 65
Show member pathways
 11.47 HBB HBA2 HBA1 ALB
4
Photodynamic therapy-induced NF-kB survival signaling 1
Show member pathways
 11.34 VCAM1 TNF CD40LG
5
O2/CO2 exchange in erythrocytes 65
Show member pathways
 11.04 HBB HBA2 HBA1
6
African trypanosomiasis 36
10.92 VCAM1 TNF HBB HBA2 HBA1
7
Malaria 36
10.8 VCAM1 TNF HBB HBA2 HBA1 CD40LG
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 9.97 VCAM1 TNF HMOX1 HBB HBA2 HBA1
2 blood microparticle GO:0072562 9.55 HBG2 HBB HBA2 HBA1 ALB
3 endocytic vesicle lumen GO:0071682 9.43 HBB HBA2 HBA1
4 hemoglobin complex GO:0005833 9.35 HBG2 HBG1 HBB HBA2 HBA1
5 haptoglobin-hemoglobin complex GO:0031838 9.02 HBG2 HBG1 HBB HBA2 HBA1

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 receptor-mediated endocytosis GO:0006898 9.73 HBB HBA2 HBA1 ALB
2 cytokine-mediated signaling pathway GO:0019221 9.72 VCAM1 TNF NANOG HMOX1 CCR5
3 positive regulation of cell death GO:0010942 9.63 HBB HBA2 HBA1
4 cellular oxidant detoxification GO:0098869 9.63 HBG2 HBG1 HBB HBA2 HBA1 ALB
5 response to hydrogen peroxide GO:0042542 9.56 HMOX1 HBB HBA2 HBA1
6 bicarbonate transport GO:0015701 9.54 HBB HBA2 HBA1
7 positive regulation of chemokine biosynthetic process GO:0045080 9.51 TNF HMOX1
8 response to salt stress GO:0009651 9.49 TNF EPO
9 heme catabolic process GO:0042167 9.48 UGT1A1 HMOX1
10 regulation of immunoglobulin secretion GO:0051023 9.4 TNF CD40LG
11 hydrogen peroxide catabolic process GO:0042744 9.35 HBG2 HBG1 HBB HBA2 HBA1
12 oxygen transport GO:0015671 9.02 HBG2 HBG1 HBB HBA2 HBA1

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

# Name GO ID Score Top Affiliating Genes
1 heme binding GO:0020037 9.85 HMOX1 HBG2 HBG1 HBB HBA2 HBA1
2 peroxidase activity GO:0004601 9.72 HBG2 HBG1 HBB HBA2 HBA1
3 oxygen carrier activity GO:0005344 9.65 HBG2 HBG1 HBB HBA2 HBA1
4 hemoglobin alpha binding GO:0031721 9.58 HBG2 HBG1 HBB
5 organic acid binding GO:0043177 9.55 HBG2 HBG1 HBB HBA2 HBA1
6 oxygen binding GO:0019825 9.43 HBG2 HBG1 HBB HBA2 HBA1 ALB
7 haptoglobin binding GO:0031720 9.02 HBG2 HBG1 HBB HBA2 HBA1
Sources

Sources for Sickle Cell Anemia

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 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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