SKCA
MCID: SCK003
MIFTS: 76

Sickle Cell Anemia (SKCA)

Categories: Blood diseases, Bone diseases, Genetic diseases, Immune diseases, Infectious diseases, Nephrological diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Sickle Cell Anemia

MalaCards integrated aliases for Sickle Cell Anemia:

Name: Sickle Cell Anemia 57 11 19 58 75 75 73 12 14 36 63
Hemoglobin Sc Disease 11 19 75 43 16 71
Anemia, Sickle Cell 43 38 71
Sickle Cell Trait 71 75 33
Sickle Cell-Hemoglobin C Disease Syndrome 19 58
Hb Ss Disease 28 5
Hbsc Disease 19 58
Hb-S - [sickle Cell Haemoglobin] Carrier 33
Sickle-Cell/hb-C Disease Without Crisis 11
Hbas - [sickle Cell Haemoglobin Trait] 33
Haemoglobin Sickle Cell Trait Disorder 33
Sickling Disorder Due to Hemoglobin S 19
Sickle-Cell Trait Haemoglobin Disease 33
Hemoglobin S Disease Without Crisis 11
Hbas - [heterozygous Haemoglobin S] 33
Sickle Cell - Hemoglobin C Disease 19
Sickle-Cell Heterozygous Disorder 33
Sickle Cell-Hemoglobin C Disease 28
Heterozygous Sickle Cell Trait 33
Sickle Cell Haemoglobin Trait 33
Hb-Ss Disease Without Crisis 11
Sickle-Cell Disease Carrier 33
Haemoglobin a-S Genotype 33
As - [sickle Cell Trait] 33
Haemoglobin Sc Disease 11
Hemoglobin S Disease 19
Sickle Cell Anaemia 11
Sickle Cell Disease 73
Hb-S/hb-C Disease 11
Drepanocytosis 11
Hb Sc Disease 11
Hbs Disease 19
Skca 73

Characteristics:


Inheritance:

Sickle Cell Anemia: Autosomal recessive 58 57
Sickle Cell-Hemoglobin C Disease Syndrome: Autosomal recessive 58

Prevelance:

1-5/10000 58

Age Of Onset:

Sickle Cell Anemia: All ages 58
Sickle Cell-Hemoglobin C Disease Syndrome: All ages 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
persistence of fetal hemoglobin can ameliorate many disease aspects
presence of comorbid alpha-thalassemia may have beneficial effects


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare renal diseases
Rare systemic and rhumatological diseases
Rare bone diseases
Rare haematological diseases


Summaries for Sickle Cell Anemia

GARD: 19 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 genetic changes in the gene that tells our bodies how to make hemoglobin. These genetic changes 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 hereditary persistence of fetal hemoglobin-sickle cell disease syndrome and deficiency anemia, and has symptoms including angina pectoris, 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 Golgi-to-ER retrograde transport and Binding and Uptake of Ligands by Scavenger Receptors. The drugs Tocopherol and Amodiaquine have been mentioned in the context of this disorder. Affiliated tissues include Blood, bone marrow and bone, and related phenotypes are chronic hemolytic anemia and recurrent infections

PubMed Health : 63 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.

Orphanet 58 Sickle cell anemia: A severe form of sickle cell disease (SCD) characterized by homozygosity for the sickle hemoglobin (HbS) gene and which acutely manifests with severe anemia, susceptibility to severe bacterial infections, and ischemic vasoocclusive accidents (VOA). It is a red cell disease of genetic origin which manifests with hemolytic disease and loss of red cell deformability leading to other occlusive events.

Sickle cell-hemoglobin c disease syndrome: A rare, genetic hemoglobinopathy characterized by anemia, reticulocytosis and erythrocyte abnormalities including target cells, irreversibly sickled cells and crystal-containing cells. Clinical course is similar to sickle cell disease, but less severe and with less complications. Signs and symptoms may include acute episodes of pain, splenic infarction and splenic sequestration crisis, acute chest syndrome, focal segmental glomerulosclerosis, ischemic brain injury, peripheral retinopathy, and osteonecrosis.

OMIM®: 57 Sickle cell anemia is a multisystem disease associated with episodes of acute illness and progressive organ damage. Hemoglobin polymerization, leading to erythrocyte rigidity and vasoocclusion, is central to the pathophysiology of the disease, but the importance of chronic anemia, hemolysis, and vasculopathy has been established. The most common cause of sickle cell anemia is the HbS variant (141900.0243), with hemoglobin SS disease being most prevalent in Africans (review by Rees et al., 2010). See review of infection in sickle cell disease by Booth et al. (2010). Piel et al. (2017) reviewed the genetic and nongenetic modifiers of the severity of sickle cell disease. (603903) (Updated 08-Dec-2022)

UniProtKB/Swiss-Prot: 73 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.

Disease Ontology: 11 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.

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

Hemoglobin sc disease: Hemoglobin C (abbreviated as HbC) is an abnormal hemoglobin in which glutamic acid residue at the 6th... more...

Sickle cell trait: Sickle cell trait describes a condition in which a person has one abnormal allele of the hemoglobin beta... more...

Related Diseases for Sickle Cell Anemia

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

(show top 50) (show all 1320)
# Related Disease Score Top Affiliating Genes
1 hereditary persistence of fetal hemoglobin-sickle cell disease syndrome 33.0 HBG2 HBG1 HBB BCL11A
2 deficiency anemia 33.0 MIR486-1 LOC107133510 LOC106099062 HP HBS1L HBG2
3 acute chest syndrome 32.9 HP HBB-LCR HBB BCL11A
4 hemoglobin c disease 32.6 LOC107133510 LOC106099062 HBS1L HBG2 HBG1 HBE1
5 sickle cell disease 32.5 LOC110006319 LOC107133510 LOC106099062 HBS1L HBG2 HBG1
6 hemoglobin se disease 32.1 LOC110006319 LOC107133510 LOC106099062 HBB
7 thalassemia 32.1 MIR486-1 LOC110006319 LOC107133510 HP HBS1L HBG2
8 priapism 31.9 HP HBB BCL11A
9 hemoglobinopathy 31.9 LOC110006319 LOC107133510 LOC106099062 HP HBS1L HBG2
10 beta-thalassemia 31.8 LOC110006319 LOC107133510 LOC106099062 HBS1L HBG2 HBG1
11 alpha-thalassemia 31.8 LOC110006319 LOC107133510 LOC106099062 HP HBS1L HBG2
12 splenic sequestration 31.7 HP HBE1 HBB EPO
13 iron metabolism disease 31.7 HBB G6PD EPO
14 hemolytic anemia 31.6 MIR486-1 LOC107133510 LOC106099062 HP HBS1L HBG2
15 sickle cell disease and related diseases 31.5 LOC107133510 LOC106099062 HBB
16 glucosephosphate dehydrogenase deficiency 31.5 HP HBG2 HBE1 HBB G6PD
17 malaria 31.3 LOC110006319 LOC107133510 LOC106099062 HP HBG2 HBE1
18 fetal hemoglobin quantitative trait locus 1 31.3 LOC110006319 LOC107133510 LOC106099062 HBS1L HBG2 HBG1
19 plasmodium falciparum malaria 31.3 HP HBB G6PD
20 iron deficiency anemia 31.3 HBG2 G6PD EPO
21 bilirubin metabolic disorder 31.3 HP HBG2 G6PD EPO
22 beta-thalassemia major 31.2 LOC110006319 LOC107133510 LOC106099062 HP HBS1L HBG2
23 hemoglobinuria 31.2 HP G6PD EPO
24 splenic infarction 31.0 HP HBB
25 hemochromatosis, type 1 31.0 HP HBS1L HBB EPO
26 congenital hemolytic anemia 30.9 HP HBG2 HBG1 HBE1 HBD HBB
27 erythroleukemia 30.9 HBG1 HBE1 HBB EPO
28 hereditary spherocytosis 30.9 HP HBG1 HBE1 HBB G6PD EPO
29 hemosiderosis 30.8 HP EPO
30 microcytic anemia 30.8 HBB G6PD EPO
31 beta-thalassemia intermedia 30.8 MIR3200 HBS1L HBG2 HBG1 HBE1 HBB
32 hemoglobin h disease 30.8 HBE1 HBB BCL11A
33 histiocytosis-lymphadenopathy plus syndrome 30.8 HBE1 HBB G6PD
34 hereditary elliptocytosis 30.8 HBE1 HBB G6PD
35 anemia, autoimmune hemolytic 30.8 HP G6PD EPO
36 blackwater fever 30.7 HP G6PD
37 thalassemia minor 30.7 HBG2 HBG1 HBE1 HBD HBB EPO
38 heinz body anemias 30.7 LOC110006319 LOC107133510 LOC106099062 HP HBB
39 hemoglobin e disease 30.7 LOC107133510 LOC106099062 HBS1L HBG2 HBE1 HBD
40 hypochromic microcytic anemia 30.6 HBE1 HBB EPO
41 neonatal anemia 30.4 HBB EPO
42 myelophthisic anemia 30.4 HP EPO
43 blood group incompatibility 30.4 G6PD EPO
44 pure red-cell aplasia 30.4 HP EPO
45 plasmodium vivax malaria 30.3 HBE1 G6PD
46 sickle cell - hemoglobin d disease 11.3
47 hpa i recognition polymorphism, beta-globin-related 11.3
48 focal segmental glomerulosclerosis 11.2
49 sickle cell disease associated with another hemoglobin anomaly 11.2
50 fetal hemoglobin quantitative trait locus 2 11.2

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


Acute Cystitis Deficiency Anemia
Hypertension, Essential Iron Deficiency Anemia

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



Diseases related to Sickle Cell Anemia

Symptoms & Phenotypes for Sickle Cell Anemia

Human phenotypes related to Sickle Cell Anemia:

58 30 (show all 42)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 chronic hemolytic anemia 58 30 Obligate (100%) Obligate (100%)
HP:0004870
2 recurrent infections 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002719
3 avascular necrosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0010885
4 osteoporosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0000939
5 chest pain 58 30 Frequent (33%) Frequent (79-30%)
HP:0100749
6 osteomyelitis 58 30 Frequent (33%) Frequent (79-30%)
HP:0002754
7 abnormality of the spleen 58 30 Frequent (33%) Frequent (79-30%)
HP:0001743
8 reticulocytosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0001923
9 leukocytosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0001974
10 iron deficiency anemia 58 30 Frequent (33%) Frequent (79-30%)
HP:0001891
11 thrombocytosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0001894
12 pigment gallstones 58 30 Frequent (33%) Frequent (79-30%)
HP:0011981
13 abnormality of the nervous system 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000707
14 cholestasis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001396
15 hypoxemia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0012418
16 persistence of hemoglobin f 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0011904
17 unconjugated hyperbilirubinemia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0008282
18 increased circulating lactate dehydrogenase concentration 30 Occasional (7.5%) HP:0025435
19 elevated circulating creatinine concentration 30 Occasional (7.5%) HP:0003259
20 microcytic anemia 58 30 Very rare (1%) Very rare (<4-1%)
HP:0001935
21 increased mean corpuscular volume 58 30 Very rare (1%) Very rare (<4-1%)
HP:0005518
22 hemolytic anemia 58 30 Very frequent (99-80%)
HP:0001878
23 hypertension 30 HP:0000822
24 splenomegaly 30 HP:0001744
25 hepatomegaly 30 HP:0002240
26 renal insufficiency 30 HP:0000083
27 retinopathy 30 HP:0000488
28 cardiomegaly 30 HP:0001640
29 cholelithiasis 30 HP:0001081
30 jaundice 30 HP:0000952
31 hematuria 30 HP:0000790
32 abdominal pain 30 HP:0002027
33 stroke 30 HP:0001297
34 abnormality of the vasculature 58 Occasional (29-5%)
35 hypochromic anemia 58 Very rare (<4-1%)
36 recurrent bacterial infections 30 HP:0002718
37 pain 58 Very frequent (99-80%)
38 increased lactate dehydrogenase activity 58 Occasional (29-5%)
39 elevated serum creatinine 58 Occasional (29-5%)
40 priapism 30 HP:0200023
41 increased red cell sickling tendency 30 HP:0008346
42 target cells 30 HP:0034280

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Abdomen:
abdominal pain

Hematology:
hypoxemia
leukocytosis
hemolysis
sickle cell anemia
anemia, chronic

Genitourinary Kidneys:
renal failure

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

Cardiovascular Vascular:
pulmonary hypertension
vasculopathy
microcirculatory occlusion
hyperemia

Respiratory Lung:
acute chest syndrome

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

Clinical features from OMIM®:

603903 (Updated 08-Dec-2022)

UMLS symptoms related to Sickle Cell Anemia:


angina pectoris; abdominal pain; chest pain; edema

GenomeRNAi Phenotypes related to Sickle Cell Anemia according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance GR00327-A 9.02 EPO FUT4 G6PD HBD HBG2

Drugs & Therapeutics for Sickle Cell Anemia

PubMed Health treatment related to Sickle Cell Anemia: 63

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

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

(show top 50) (show all 363)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tocopherol Approved, Investigational Phase 4 1406-66-2
2
Amodiaquine Approved, Investigational Phase 4 86-42-0 2165
3
Proguanil Approved Phase 4 500-92-5 4923 6178111
4
Hydromorphone Approved, Illicit Phase 4 466-99-9, 71-68-1 5284570
5
Etonogestrel Approved, Investigational Phase 4 54048-10-1 6917715
6
Desogestrel Approved Phase 4 54024-22-5 40973
7
Lactitol Approved, Investigational Phase 4 585-86-4 157355
8
Ketorolac Approved Phase 4 74103-06-3, 66635-83-4 3826
9
Ibuprofen Approved Phase 4 15687-27-1 3672
10
Deferiprone Approved Phase 4 30652-11-0 2972
11
Diamorphine Approved, Illicit, Investigational Phase 4 561-27-3 5462328
12
DL-alpha-Tocopherol Approved, Experimental, Investigational, Nutraceutical, Vet_approved Phase 4 59-02-9, 10191-41-0 2116 14985
13
Calcifediol Approved, Nutraceutical Phase 4 19356-17-3 5283731
14
Arginine Approved, Investigational, Nutraceutical Phase 4 74-79-3 6322
15
L-Glutamine Approved, Investigational, Nutraceutical Phase 4 56-85-9 5961
16
Tocotrienol Investigational Phase 4 6829-55-6 9929901
17
(3-Carboxy-2-(R)-Hydroxy-Propyl)-Trimethyl-Ammonium Experimental Phase 4 461-06-3
18 Tocotrienols Phase 4
19 Tocopherols Phase 4
20 Artemisinins Phase 4
21 Hydroxycholecalciferols Phase 4
22 Contraceptive Agents Phase 4
23
Ethylene Phase 4 74-85-1 6325
24 Progestins Phase 4
25 Arginine Vasopressin Phase 4
26 Vasopressins Phase 4
27 Deamino Arginine Vasopressin Phase 4
28 Coagulants Phase 4
29 Antirheumatic Agents Phase 4
30 Anti-Inflammatory Agents Phase 4
31 Pharmaceutical Solutions Phase 4
32 Analgesics, Non-Narcotic Phase 4
33
Ketorolac Tromethamine Phase 4
34 Cyclooxygenase Inhibitors Phase 4
35 Anti-Inflammatory Agents, Non-Steroidal Phase 4
36 Vaccines Phase 4
37 Heptavalent Pneumococcal Conjugate Vaccine Phase 4
38
Deferoxamine Approved, Investigational Phase 2, Phase 3 70-51-9 2973
39
Chloroquine Approved, Investigational, Vet_approved Phase 3 54-05-7 2719
40
Zinc sulfate Approved, Investigational Phase 2, Phase 3 7733-02-0
41
Carbamide peroxide Approved Phase 2, Phase 3 124-43-6
42
Simvastatin Approved Phase 2, Phase 3 79902-63-9 54454
43
Lenograstim Approved, Investigational Phase 2, Phase 3 135968-09-1
44
Acetylcysteine Approved, Investigational Phase 3 616-91-1 581 12035
45
Magnesium sulfate Approved, Investigational, Vet_approved Phase 3 7487-88-9
46
Dopamine Approved Phase 3 62-31-7, 51-61-6 681
47
Vidarabine Approved, Investigational Phase 2, Phase 3 24356-66-9 21704
48 Orange Approved Phase 3
49
Sorbitol Approved, Investigational Phase 3 69-65-8, 50-70-4 453 6251 5780
50
Nalbuphine Approved Phase 3 20594-83-6 5311304

Interventional clinical trials:

(show top 50) (show all 900)
# Name Status NCT ID Phase Drugs
1 Endothelial Monocyte-activating Polypeptide-II as an Endothelial Dysfunction Marker and Its Relation to the Oxidative Stress in Egyptian Sickle Patients Unknown status NCT03903133 Phase 4 Vitamin E
2 Long-term Safety and Efficacy Study of Ferriprox® for the Treatment of Transfusional Iron Overload in Patients With Sickle Cell Disease or Other Anemias Unknown status NCT02443545 Phase 4 Deferiprone
3 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
4 The Effect of Voxelotor on Exercise Capacity of Youths With Sickle Cell Anemia Completed NCT04581356 Phase 4 Voxelotor
5 Enhancing Preventive Therapy of Malaria In Children With Sickle Cell Anemia in East Africa (EPiTOMISE) Completed NCT03178643 Phase 4 Proguanil Oral Tablet;Sulfadoxine/Pyrimethanine-Amodiaquine (SP-AQ);Dihydroartemisinin-Piperaquine (DP)
6 Treatment With Hydoxycarbamide and L-Carnitine in Adult Patients With Severe Forms of Sickle Cell Anemia: An Overview Completed NCT05081349 Phase 4 Hydroxycarbamide 500 Mg Oral Capsule+L-Carnitine;Hydroxycarbamide 500 Mg Oral Capsule;L-Carnitine, 250 Mg Oral Capsule
7 Does IV Acetaminophen Reduce Opioid Requirement in Pediatric Emergency Department Patients With Acute Sickle Cell Crises? Completed NCT03541980 Phase 4 Acetaminophen;Normal saline
8 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 Completed NCT03176849 Phase 4
9 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
10 Pilot Pharmacokinetic Study In Patients With Inadequate Response To Deferasirox (Exjade) Completed NCT00749515 Phase 4 Deferoxamine;Deferasirox
11 Use of Etonogestrel-releasing Contraceptive Implant in Women With Sickle Cell Disease Completed NCT02594462 Phase 4 etonogestrel-releasing implant contraceptive
12 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
13 Rejuvesol® Washed RBC in Sickle Cell Patients Requiring Frequent Transfusions Completed NCT02731157 Phase 4 Rejuvesol
14 A Phase 4, Open-Label, Single-Center Study to Assess Pharmacokinetic Characteristics and Safety of Endari in Patients With Sickle Cell Disease Completed NCT04684381 Phase 4 L-glutamine
15 Future of Spermatogenesis in Men With Sickle Cell Disease Medically Treated. Completed NCT01609192 Phase 4 Hydrea® (hydroxyurea )
16 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
17 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)
18 Low Dose Ketamine for Acute Pain Crisis in Patients With Sickle Cell Disease Completed NCT04330183 Phase 4 Ketamine;Normal Saline
19 Desmopressin as a Therapy for Nocturnal Enuresis in Pediatric Patients With Sickle Cell Disease Recruiting NCT04420585 Phase 4 Desmopressin
20 An Indian Multi-centric Phase IV Study to Assess the Safety of Crizanlizumab With or Without Hydroxyurea Therapy in Sickle Cell Disease Patients With Vaso-occlusive Crises. Recruiting NCT04662931 Phase 4 crizanlizumab
21 An Open-label, Multi-center, Phase IV, Rollover Study for Patients With Sickle Cell Disease Who Have Completed a Prior Novartis-Sponsored Crizanlizumab Study Recruiting NCT04657822 Phase 4 Crizanlizumab
22 Safety and Efficacy of Glutamine in Preventing Vaso-occlusive Crisis Among Sickle Cell Disease Patients: Randomized Controlled Study Recruiting NCT05371184 Phase 4 L-Glutamine, Oral Powder for Reconstitution
23 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
24 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 Active, not recruiting NCT04400487 Phase 4 Voxelotor
25 A Phase 4 Randomized, Placebo-controlled, Multicenter Study to Evaluate the Efficacy of Voxelotor to Improve Cerebral Blood Flow in Patients With Sickle Cell Disease Not yet recruiting NCT05228821 Phase 4 Voxelotor Oral Tablet;Placebo
26 Ketorolac Versus Ibuprofen for the Painful Crisis of Sickle Cell Disease - Southwestern Comprehensive Sickle Cell Center Terminated NCT00115336 Phase 4 Intravenous Ketorolac;Ibuprofen
27 The Efficacy and Safety of Ferriprox® for the Treatment of Transfusional Iron Overload in Patients With Sickle Cell Disease or Other Anemias Terminated NCT02041299 Phase 4 Deferiprone;Deferoxamine
28 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
29 A Pilot Study on the Effects of Intravenous Ketamine on Acute Pain Crisis in Patients With Sickle Cell Disease Terminated NCT00252122 Phase 4 Ketamine
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 Endothelial Function in Patients With Sickle Cell Anemia Before and After Sildenafil Withdrawn NCT00937144 Phase 4 Viagra (Sildenafil);placebo
32 Early Low-dose Ketamine Infusion Versus Usual Care for Sickle Cell Pain Crisis: a Randomized, Prospective Study. Withdrawn NCT04005209 Phase 4 Ketamine
33 Non-Invasive Assessment of Opioid Analgesia in Children With Sickle Cell Disease Withdrawn NCT00513864 Phase 4 Dextromethorphan;Codeine;Morphine
34 Efficacy of Gum Arabic as Anti-oxidant, Anti-inflammatory and Fetal Hemoglobin Inducing Agent in Sickle Cell Anemia Patients : A Randomized, Double-blind, Two-armed Parallel-group, Placebo-controlled Phase II/III Study - Khartoum, Sudan Unknown status NCT04191213 Phase 2, Phase 3
35 A Phase 3, Prospective, Randomized, Double-Blind, Placebo Controlled, Multi-center Study of SC411 for Sickle Cell Disease Unknown status NCT02604368 Phase 3 SC411;Placebo
36 Transfusion Alternatives Pre-Operatively in Sickle Cell Disease Unknown status NCT00512577 Phase 3
37 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
38 Preventing Stroke Triggers in Children With Sickle Cell Anaemia in Mulago Hospital, Kampala (PREST ): a Randomized Control Trial Unknown status NCT03666806 Phase 2, Phase 3
39 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
40 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
41 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
42 Reduced Intensity Matched Sibling Bone Marrow Transplantation for Sickle Cell Anemia in Patients 2-30 Years Old Completed NCT01877837 Phase 3 Alemtuzumab;Fludarabine;Melphalan
43 Presumptive Treatment With Sulfadoxine- Pyrimethamine Versus Weekly Chloroquine for Malaria Prophylaxis in Children With Sickle Cell Anemia Completed NCT00399074 Phase 3 sulfadoxine pyrimethamine
44 Multicenter Study of Hydroxyurea in Patients With Sickle Cell Anemia (MSH) Completed NCT00000586 Phase 3 hydroxyurea
45 Stroke Prevention in Sickle Cell Anemia (STOP 1) Completed NCT00000592 Phase 3
46 Stroke Prevention in Sickle Cell Anemia (STOP 2) Completed NCT00006182 Phase 3
47 Optimizing Hydroxyurea Therapy in Children With Sickle Cell Anemia In Malaria Endemic Areas: The NOHARM Maximum Tolerated Dose (MTD) Study Completed NCT03128515 Phase 3 Hydroxyurea
48 A PHASE III, PROSPECTIVE, RANDOMIZED, DOUBLE-BLIND, PLACEBO-CONTROLLED, PARALLEL-GROUP, MULTICENTER STUDY OF L GLUTAMINE THERAPY FOR SICKLE CELL ANEMIA AND SICKLE ß0-THALASSEMIA Completed NCT01179217 Phase 3 L-glutamine;Placebo
49 Comparative Effectiveness of the Different Treatment Modalities for Management of Vaso-occlusive Painful Crisis in Pediatric Sickle Cell Disease Completed NCT04301336 Phase 2, Phase 3 Omega 3;Vit D;Zinc sulfate;Statins (Cardiovascular Agents);Hydroxy Urea;Folic Acid Supplementation;Morphine Sulfate
50 Hydroxyurea for Stroke Prevention in Children With Sickle Cell Disease in Sub-Saharan Africa Completed NCT02675790 Phase 3 Moderate Dose Hydroxyurea;Low Dose Hydroxyurea

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.

Cochrane evidence based reviews: hemoglobin sc disease

Genetic Tests for Sickle Cell Anemia

Genetic tests related to Sickle Cell Anemia:

# Genetic test Affiliating Genes
1 Sickle Cell-Hemoglobin C Disease 28
2 Hb Ss Disease 28 HBB

Anatomical Context for Sickle Cell Anemia

Organs/tissues related to Sickle Cell Anemia:

MalaCards : Bone Marrow, Bone, Brain, Endothelial, Spleen, Kidney, Liver
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 25377)
# Title Authors PMID Year
1
Elderly survivors with homozygous sickle cell disease. 62 57 5
17287491 2007
2
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. 62 57 5
9843985 1998
3
Mortality in sickle cell disease. Life expectancy and risk factors for early death. 62 57 5
7993409 1994
4
Relatively benign sickle-cell anaemia in 60 patients aged over 30 in the West Indies. 62 57 5
4232783 1968
5
Biologic and Clinical Efficacy of LentiGlobin for Sickle Cell Disease. 62 57
34898139 2022
6
Post-Transcriptional Genetic Silencing of BCL11A to Treat Sickle Cell Disease. 62 57
33283990 2021
7
A Phase 3 Randomized Trial of Voxelotor in Sickle Cell Disease. 62 57
31199090 2019
8
Hydroxyurea for Children with Sickle Cell Anemia in Sub-Saharan Africa. 62 57
30501550 2019
9
A Phase 3 Trial of l-Glutamine in Sickle Cell Disease. 62 57
30021096 2018
10
Sickle Cell Disease. 62 57
28423290 2017
11
The Prevalence of Sickle Cell Disease and Its Implication for Newborn Screening in Germany (Hamburg Metropolitan Area). 62 5
26275168 2016
12
Management of sickle cell disease: summary of the 2014 evidence-based report by expert panel members. 62 57
25203083 2014
13
Prevalence of the β(S) gene among scheduled castes, scheduled tribes and other backward class groups in Central India. 62 5
25023085 2014
14
Prevalence of sickle cell disease in a pediatric population suffering from severe infections: a Congolese experience. 62 5
25023084 2014
15
Sickle cell disease incidence among newborns in New York State by maternal race/ethnicity and nativity. 62 57
23018751 2013
16
Correction of sickle cell disease in adult mice by interference with fetal hemoglobin silencing. 62 57
21998251 2011
17
Sickle-cell disease. 62 57
21131035 2010
18
Fine-mapping at three loci known to affect fetal hemoglobin levels explains additional genetic variation. 62 57
21057501 2010
19
Infection in sickle cell disease: a review. 62 57
19497774 2010
20
Haemoglobin F modulation in childhood sickle cell disease. 62 57
19036119 2009
21
DNA polymorphisms at the BCL11A, HBS1L-MYB, and beta-globin loci associate with fetal hemoglobin levels and pain crises in sickle cell disease. 62 57
18667698 2008
22
Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia. 62 57
18245381 2008
23
Treatment of sickle cell anemia mouse model with iPS cells generated from autologous skin. 62 57
18063756 2007
24
Negative epistasis between the malaria-protective effects of alpha+-thalassemia and the sickle cell trait. 62 57
16227994 2005
25
Hemolysis-associated priapism in sickle cell disease. 62 57
15985542 2005
26
Genetic dissection and prognostic modeling of overt stroke in sickle cell anemia. 62 57
15778708 2005
27
Impaired vasodilation by red blood cells in sickle cell disease. 62 57
15699345 2005
28
Association of single nucleotide polymorphisms in klotho with priapism in sickle cell anaemia. 62 57
15638863 2005
29
Antisickling effects of an endogenous human alpha-like globin. 62 57
15034572 2004
30
Pulmonary hypertension as a risk factor for death in patients with sickle cell disease. 62 57
14985486 2004
31
Causes of death in sickle cell disease: an autopsy study. 62 57
14531921 2003
32
Primary role for adherent leukocytes in sickle cell vascular occlusion: a new paradigm. 62 5
11880644 2002
33
Arginine supplementation of sickle transgenic mice reduces red cell density and Gardos channel activity. 62 5
11830454 2002
34
Molecular analysis of the beta-globin gene cluster in the Niokholo Mandenka population reveals a recent origin of the beta(S) Senegal mutation. 62 5
11741197 2002
35
Correction of sickle cell disease in transgenic mouse models by gene therapy. 62 57
11743206 2001
36
Five years of experience with hydroxyurea in children and young adults with sickle cell disease. 62 57
11369660 2001
37
Contribution of sickle cell disease to the occurrence of developmental disabilities: a population-based study. 62 57
11388758 2001
38
Cutaneous adverse reactions to hydroxyurea in patients with sickle cell disease. 62 57
11295927 2001
39
The acute chest syndrome of sickle cell disease. 62 57
10861328 2000
40
Causes and outcomes of the acute chest syndrome in sickle cell disease. National Acute Chest Syndrome Study Group. 62 57
10861320 2000
41
Height and weight reference curves for homozygous sickle cell disease. 62 57
10685921 2000
42
Genetic correction of sickle cell disease: insights using transgenic mouse models. 62 57
10655106 2000
43
Gallstones in sickle cell disease: observations from The Jamaican Cohort study. 62 57
10636979 2000
44
Monoclonal antibodies to alphaVbeta3 (7E3 and LM609) inhibit sickle red blood cell-endothelium interactions induced by platelet-activating factor. 62 57
10627437 2000
45
First unaffected pregnancy using preimplantation genetic diagnosis for sickle cell anemia. 62 57
10328069 1999
46
Management of sickle cell disease. 62 57
10099145 1999
47
A knockout of a transgenic mouse--animal models of sickle cell anemia. 62 5
9664098 1998
48
Ribozyme-mediated repair of sickle beta-globin mRNAs in erythrocyte precursors. 62 57
9616120 1998
49
Knockout-transgenic mouse model of sickle cell disease. 62 57
9346487 1997
50
Transgenic knockout mice with exclusively human sickle hemoglobin and sickle cell disease. 62 57
9346488 1997

Variations for Sickle Cell Anemia

ClinVar genetic disease variations for Sickle Cell Anemia:

5 (show top 50) (show all 57)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 overlap with 47 genes DEL Pathogenic
1684646 GRCh37:
GRCh38: 7:73304277-74727414
2 LOC106099062, HBB, LOC107133510 NM_000518.5(HBB):c.20A>T (p.Glu7Val) SNV Pathogenic
Pathogenic
Pathogenic
15333 rs334 GRCh37: 11:5248232-5248232
GRCh38: 11:5227002-5227002
3 LOC110006319, HBB, LOC107133510 NM_000518.5(HBB):c.316-106C>G SNV Pathogenic
Pathogenic
15457 rs34690599 GRCh37: 11:5247062-5247062
GRCh38: 11:5225832-5225832
4 LOC106099062, LOC110006319, HBB, LOC107133510 NM_000518.5(HBB):c.315+1G>A SNV Pathogenic
Pathogenic
15438 rs33945777 GRCh37: 11:5247806-5247806
GRCh38: 11:5226576-5226576
5 LOC106099062, HBB, LOC107133510 NM_000518.5(HBB):c.118C>T (p.Gln40Ter) SNV Pathogenic
Pathogenic
15402 rs11549407 GRCh37: 11:5248004-5248004
GRCh38: 11:5226774-5226774
6 LOC106099062, HBB, LOC107133510 NM_000518.5(HBB):c.93-21G>A SNV Pathogenic
Pathogenic
15454 rs35004220 GRCh37: 11:5248050-5248050
GRCh38: 11:5226820-5226820
7 LOC106099062, HBB, LOC107133510 NM_000518.5(HBB):c.92+6T>C SNV Pathogenic
Conflicting Interpretations Of Pathogenicity
15450 rs35724775 GRCh37: 11:5248154-5248154
GRCh38: 11:5226924-5226924
8 LOC106099062, HBB, LOC107133510 NM_000518.5(HBB):c.92+5G>C SNV Pathogenic
Pathogenic
15447 rs33915217 GRCh37: 11:5248155-5248155
GRCh38: 11:5226925-5226925
9 LOC106099062, HBB, LOC107133510 NM_000518.5(HBB):c.92+1G>A SNV Pathogenic
Pathogenic
15436 rs33971440 GRCh37: 11:5248159-5248159
GRCh38: 11:5226929-5226929
10 LOC106099062, HBB, LOC107133510 NM_000518.5(HBB):c.52A>T (p.Lys18Ter) SNV Pathogenic
Pathogenic
15401 rs33986703 GRCh37: 11:5248200-5248200
GRCh38: 11:5226970-5226970
11 HBB, LOC106099062, LOC107133510 NM_000518.5(HBB):c.-79A>G SNV Pathogenic
15469 rs34598529 GRCh37: 11:5248330-5248330
GRCh38: 11:5227100-5227100
12 LOC106099062, HBB, LOC107133510 NM_000518.5(HBB):c.112del (p.Trp38fs) DEL Pathogenic
15431 rs63750532 GRCh37: 11:5248010-5248010
GRCh38: 11:5226780-5226780
13 LOC106099062, HBB, LOC107133510 NM_000518.5(HBB):c.92+1G>T SNV Pathogenic
15437 rs33971440 GRCh37: 11:5248159-5248159
GRCh38: 11:5226929-5226929
14 LOC106099062, HBB, LOC107133510 NM_000518.4(HBB):c.92G>C (p.Arg31Thr) SNV Pathogenic
15234 rs33960103 GRCh37: 11:5248160-5248160
GRCh38: 11:5226930-5226930
15 LOC106099062, HBB, LOC107133510 NM_000518.5(HBB):c.130G>T (p.Glu44Ter) SNV Pathogenic
15406 rs33922842 GRCh37: 11:5247992-5247992
GRCh38: 11:5226762-5226762
16 LOC106099062, HBB, LOC107133510 NM_000518.5(HBB):c.126_129del (p.Phe42fs) DEL Pathogenic
15417 rs80356821 GRCh37: 11:5247993-5247996
GRCh38: 11:5226763-5226766
17 LOC106099062, HBB, LOC107133510 NM_000518.4(HBB):c.19G>A (p.Glu7Lys) SNV Pathogenic
Pathogenic
15126 rs33930165 GRCh37: 11:5248233-5248233
GRCh38: 11:5227003-5227003
18 LOC110006319, HBB, LOC107133510 NM_000518.4(HBB):c.364G>A (p.Glu122Lys) SNV Pathogenic
Pathogenic/Likely Pathogenic
15292 rs33946267 GRCh37: 11:5246908-5246908
GRCh38: 11:5225678-5225678
19 LOC106099062, HBB, LOC107133510 NM_000518.5(HBB):c.79G>A (p.Glu27Lys) SNV Pathogenic
Pathogenic
15161 rs33950507 GRCh37: 11:5248173-5248173
GRCh38: 11:5226943-5226943
20 LOC106099062, HBB, LOC107133510 NM_000518.5(HBB):c.17_18del (p.Pro6fs) DEL Pathogenic
Pathogenic
15422 rs34889882 GRCh37: 11:5248234-5248235
GRCh38: 11:5227004-5227005
21 LOC110006319, HBB, LOC107133510 NM_000518.4(HBB):c.410G>A (p.Gly137Asp) SNV Pathogenic
15202 rs33949486 GRCh37: 11:5246862-5246862
GRCh38: 11:5225632-5225632
22 LOC110006319, HBB, LOC107133510 NM_000518.5(HBB):c.*110T>C SNV Pathogenic
36332 rs33978907 GRCh37: 11:5246718-5246718
GRCh38: 11:5225488-5225488
23 HBB, LOC106099062, LOC107133510 NM_000518.4(HBB):c.-137C>T SNV Pathogenic
36287 rs33941377 GRCh37: 11:5248388-5248388
GRCh38: 11:5227158-5227158
24 HBB, LOC106099062, LOC107133510 NM_000518.5(HBB):c.-78A>C SNV Pathogenic
15470 rs33931746 GRCh37: 11:5248329-5248329
GRCh38: 11:5227099-5227099
25 HBB, LOC106099062, LOC107133510 NM_000518.5(HBB):c.-78A>G SNV Pathogenic
15471 rs33931746 GRCh37: 11:5248329-5248329
GRCh38: 11:5227099-5227099
26 LOC106099062, HBB, LOC107133510 NM_000518.5(HBB):c.2T>G (p.Met1Arg) SNV Pathogenic
15434 rs33941849 GRCh37: 11:5248250-5248250
GRCh38: 11:5227020-5227020
27 LOC106099062, HBB, LOC107133510 NM_000518.5(HBB):c.20del (p.Glu7fs) DEL Pathogenic
15418 rs63749819 GRCh37: 11:5248232-5248232
GRCh38: 11:5227002-5227002
28 LOC106099062, HBB, LOC107133510 NM_000518.5(HBB):c.25_26del (p.Lys9fs) DEL Pathogenic
15413 rs35497102 GRCh37: 11:5248226-5248227
GRCh38: 11:5226996-5226997
29 LOC106099062, HBB, LOC107133510 NM_000518.5(HBB):c.27dup (p.Ser10fs) DUP Pathogenic
36308 rs35699606 GRCh37: 11:5248224-5248225
GRCh38: 11:5226994-5226995
30 LOC106099062, HBB, LOC107133510 NM_000518.5(HBB):c.47G>A (p.Trp16Ter) SNV Pathogenic
15403 rs63750783 GRCh37: 11:5248205-5248205
GRCh38: 11:5226975-5226975
31 LOC106099062, HBB, LOC107133510 NM_000518.5(HBB):c.75T>A (p.Gly25=) SNV Pathogenic
15459 rs33951465 GRCh37: 11:5248177-5248177
GRCh38: 11:5226947-5226947
32 LOC106099062, HBB, LOC107133510 NM_000518.5(HBB):c.82G>T (p.Ala28Ser) SNV Pathogenic
15239 rs35424040 GRCh37: 11:5248170-5248170
GRCh38: 11:5226940-5226940
33 LOC106099062, HBB, LOC107133510 NM_000518.5(HBB):c.85dup (p.Leu29fs) DUP Pathogenic
15432 rs35532010 GRCh37: 11:5248166-5248167
GRCh38: 11:5226936-5226937
34 HBB, LOC106099062, LOC107133510 NM_000518.4(HBB):c.-137C>A SNV Pathogenic
36285 rs33941377 GRCh37: 11:5248388-5248388
GRCh38: 11:5227158-5227158
35 LOC110006319, HBB, LOC107133510 NM_000518.5(HBB):c.316-197C>T SNV Pathogenic
15458 rs34451549 GRCh37: 11:5247153-5247153
GRCh38: 11:5225923-5225923
36 LOC110006319, HBB, LOC107133510 NM_000518.5(HBB):c.316-7C>A SNV Pathogenic
551906 rs34483965 GRCh37: 11:5246963-5246963
GRCh38: 11:5225733-5225733
37 LOC110006319, HBB, LOC107133510 NM_000518.5(HBB):c.316-2A>G SNV Pathogenic
21191 rs33914668 GRCh37: 11:5246958-5246958
GRCh38: 11:5225728-5225728
38 LOC110006319, HBB, LOC107133510 NM_000518.4(HBB):c.332T>C (p.Leu111Pro) SNV Pathogenic
15352 rs35256489 GRCh37: 11:5246940-5246940
GRCh38: 11:5225710-5225710
39 LOC110006319, HBB, LOC107133510 NM_000518.5(HBB):c.364G>T (p.Glu122Ter) SNV Pathogenic
15404 rs33946267 GRCh37: 11:5246908-5246908
GRCh38: 11:5225678-5225678
40 LOC110006319, HBB, LOC107133510 NM_000518.4(HBB):c.364G>C (p.Glu122Gln) SNV Pathogenic/Likely Pathogenic
15152 rs33946267 GRCh37: 11:5246908-5246908
GRCh38: 11:5225678-5225678
41 LOC106099062, HBB, LOC107133510 NM_000518.4(HBB):c.208G>A (p.Gly70Ser) SNV Likely Pathogenic
Conflicting Interpretations Of Pathogenicity
Not Provided
15138 rs33947415 GRCh37: 11:5247914-5247914
GRCh38: 11:5226684-5226684
42 HBB, LOC106099062, LOC107133510 NM_000518.5(HBB):c.-138C>A SNV Likely Pathogenic
393701 rs33944208 GRCh37: 11:5248389-5248389
GRCh38: 11:5227159-5227159
43 LOC110006319, HBB, LOC107133510 NM_000518.5(HBB):c.389C>T (p.Ala130Val) SNV Likely Pathogenic
15245 rs111645889 GRCh37: 11:5246883-5246883
GRCh38: 11:5225653-5225653
44 LOC110006319, HBB, LOC107133510 NM_000518.5(HBB):c.*56A>T SNV Uncertain Significance
305000 rs537944366 GRCh37: 11:5246772-5246772
GRCh38: 11:5225542-5225542
45 LOC110006319, HBB, LOC107133510 NM_000518.5(HBB):c.*53C>A SNV Uncertain Significance
305001 rs886048393 GRCh37: 11:5246775-5246775
GRCh38: 11:5225545-5225545
46 LOC110006319, HBB, LOC107133510 NM_000518.5(HBB):c.*59A>G SNV Uncertain Significance
878836 rs1345009528 GRCh37: 11:5246769-5246769
GRCh38: 11:5225539-5225539
47 LOC110006319, HBB, LOC107133510 NM_000518.5(HBB):c.*18C>A SNV Uncertain Significance
879417 rs1348310843 GRCh37: 11:5246810-5246810
GRCh38: 11:5225580-5225580
48 LOC106099062, HBB, LOC107133510 NM_000518.5(HBB):c.85C>T (p.Leu29=) SNV Uncertain Significance
879840 rs33958088 GRCh37: 11:5248167-5248167
GRCh38: 11:5226937-5226937
49 HBB, LOC106099062, LOC107133510 NM_000518.5(HBB):c.-106G>C SNV Uncertain Significance
36281 rs63750681 GRCh37: 11:5248357-5248357
GRCh38: 11:5227127-5227127
50 LOC110006319, HBB, LOC107133510 NM_000518.5(HBB):c.324C>T (p.Gly108=) SNV Uncertain Significance
36322 rs193922562 GRCh37: 11:5246948-5246948
GRCh38: 11:5225718-5225718

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

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 blood microparticle GO:0072562 9.93 HPR HP HBG2 HBE1 HBD HBB
2 hemoglobin complex GO:0005833 9.65 HBG2 HBG1 HBE1 HBD HBB
3 haptoglobin-hemoglobin complex GO:0031838 9.4 HP HBG2 HBG1 HBE1 HBD HBB

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

# Name GO ID Score Top Affiliating Genes
1 cellular oxidant detoxification GO:0098869 10.1 HP HBG2 HBG1 HBE1 HBD HBB
2 hydrogen peroxide catabolic process GO:0042744 9.96 HBG2 HBG1 HBE1 HBD HBB
3 oxygen transport GO:0015671 9.85 HBB HBD HBE1 HBG1 HBG2
4 erythrocyte maturation GO:0043249 9.67 G6PD EPO
5 carbon dioxide transport GO:0015670 9.65 HBG2 HBG1 HBE1 HBD HBB
6 positive regulation of cell death GO:0010942 9.47 HPR HP HBG2 HBG1 HBE1 HBD

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 10.13 HBG2 HBG1 HBE1 HBD HBB
2 peroxidase activity GO:0004601 10.07 HBB HBD HBE1 HBG1 HBG2
3 oxygen binding GO:0019825 10.02 HBG2 HBG1 HBE1 HBD HBB
4 oxygen carrier activity GO:0005344 9.96 HBB HBD HBE1 HBG1 HBG2
5 hemoglobin binding GO:0030492 9.88 HPR HP HBB
6 organic acid binding GO:0043177 9.85 HBG2 HBG1 HBE1 HBD HBB
7 haptoglobin binding GO:0031720 9.65 HBG2 HBG1 HBE1 HBD HBB
8 hemoglobin alpha binding GO:0031721 9.32 HBG2 HBG1 HBE1 HBD HBB

Sources for Sickle Cell Anemia

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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