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SKCA
MCID: SCK003
MIFTS: 72

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 57 38 12 76 76 53 59 75 37 13 15 63
Hemoglobin Sc Disease 12 76 53 44 73
Anemia, Sickle Cell 44 40 73
Sickle Cell-Hemoglobin C Disease Syndrome 53 59
Sickle Cell Disease 59 75
Hbsc Disease 53 59
Sickle-Cell/hb-C Disease Without Crisis 12
Sickling Disorder Due to Hemoglobin S 53
Hemoglobin S Disease Without Crisis 12
Sickle Cell - Hemoglobin C Disease 53
Sickle Cell-Hemoglobin C Disease 29
Hb-Ss Disease Without Crisis 12
Hemoglobin S Disease 53
Hb-S/hb-C Disease 12
Sickle Cell Trait 73
Drepanocytosis 12
Hb Sc Disease 12
Hemoglobin S 6
Hbs Disease 53
Skca 75

Characteristics:

Orphanet epidemiological data:

59
sickle cell anemia
Inheritance: Autosomal recessive; Prevalence: 1-5/10000 (France),1-5/10000 (United States),1-5/10000 (Europe); Age of onset: All ages; Age of death: adult,early childhood,infantile;
sickle cell-hemoglobin c disease syndrome
Inheritance: Autosomal recessive; Age of onset: All ages;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
sickle cell anemia:
Inheritance autosomal recessive inheritance


Classifications:

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


Sources

Summaries for Sickle Cell Anemia

About this section
NIH Rare Diseases : 53 Hemoglobin SC disease, is a type of sickle cell disease, which means it affects the shape of the red blood cells. Red blood cells contain a protein called hemoglobin, which is responsible for carrying blood throughout the body. People with hemoglobin SC disease have red blood cells that are differently shaped and therefore do not carry oxygen as effectively. Symptoms of hemoglobin SC disease include anemia and episodes of fatigue and extreme pain (vaso-occlusive crisis). The severity of the symptoms can vary from person to person. Hemoglobin SC disease is caused by mutations in the gene that tells our bodies how to make hemoglobin. These mutations cause changes in the shape of the red blood cells. People affected by hemoglobin SC disease need to be especially careful to avoid infection and should be checked regularly by doctors to make sure all of the organs in the body are functioning properly. In times when the anemia becomes severe, a person affected by hemoglobin SC disease may require a blood transfusion. A bone marrow transplant may also be recommended depending on the severity of the symptoms. 

MalaCards based summary : Sickle Cell Anemia, also known as hemoglobin sc disease, is related to hereditary persistence of fetal hemoglobin-sickle cell disease syndrome and deficiency anemia, and has symptoms including angina pectoris, abdominal pain and edema. 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 Hydroxyurea 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 aseptic necrosis and osteoporosis

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

UniProtKB/Swiss-Prot : 75 Sickle cell anemia: Characterized by abnormally shaped red cells resulting in chronic anemia and periodic episodes of pain, serious infections and damage to vital organs. Normal red blood cells are round and flexible and flow easily through blood vessels, but in sickle cell anemia, the abnormal hemoglobin (called Hb S) causes red blood cells to become stiff. They are C-shaped and resembles a sickle. These stiffer red blood cells can led to microvascular occlusion thus cutting off the blood supply to nearby tissues.

PubMed Health : 63 About sickle cell anemia: Sickle cell anemia (uh-NEE-me-uh) is the most common form of sickle cell disease (SCD). SCD is a serious disorder in which the body makes sickle-shaped red blood cells. “Sickle-shaped” means that the red blood cells are shaped like a crescent.Normal red blood cells are disc-shaped and look like doughnuts without holes in the center. They move easily through your blood vessels. Red blood cells contain an iron-rich protein called hemoglobin (HEE-muh-glow-bin). This protein carries oxygen from the lungs to the rest of the body.Sickle cells contain abnormal hemoglobin called sickle hemoglobin or hemoglobin S. Sickle hemoglobin causes the cells to develop a sickle, or crescent, shape.Sickle cells are stiff and sticky. They tend to block blood flow in the blood vessels of the limbs and organs. Blocked blood flow can cause pain and organ damage. It can also raise the risk for infection.

Wikipedia : 76 Sickle cell disease (SCD) is a group of blood disorders typically inherited from a person''s parents.... more...

Sources

Related Diseases for Sickle Cell Anemia

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

(show top 50) (show all 432)
# Related Disease Score Top Affiliating Genes
1 hereditary persistence of fetal hemoglobin-sickle cell disease syndrome 33.5 BCL11A HBB HBG1 HBG2
2 deficiency anemia 32.2 EPO G6PD HBA2 HBB HBG2
3 hemoglobin c disease 30.8 HBB MTHFR
4 cholelithiasis 30.6 HBB UGT1A1 UGT1A6
5 thalassemia 30.6 BCL11A EPO HBA1 HBA2 HBB HBG1
6 cerebrovascular disease 30.3 F2 MTHFR TNF VCAM1
7 plasmodium falciparum malaria 30.2 G6PD HBB TNF
8 glucosephosphate dehydrogenase deficiency 30.1 G6PD HBB HBG2 UGT1A1
9 hemoglobinopathy 30.1 EPO HBA1 HBA2 HBB HBG1 UGT1A1
10 alpha-thalassemia 30.1 EPO G6PD HBA1 HBA2 HBB HBG1
11 intracranial hypertension 30.0 F2 MTHFR TNF
12 sudden sensorineural hearing loss 30.0 F2 MTHFR
13 fetal hemoglobin quantitative trait locus 1 30.0 HBB HBG1 HBG2
14 spinal cord infarction 29.9 F2 MTHFR
15 hemolytic anemia 29.9 EPO G6PD HBA1 HBA2 HBB HBG2
16 ischemic optic neuropathy 29.9 F2 G6PD MTHFR
17 vascular disease 29.9 F2 MTHFR TNF VCAM1
18 hemoglobin e disease 29.9 F2 HBB HBS1L
19 gilbert syndrome 29.9 G6PD UGT1A1 UGT1A6
20 endocarditis 29.9 F2 TNF VCAM1
21 hereditary spherocytosis 29.8 G6PD HBB HBG1 UGT1A1
22 beta-thalassemia 29.7 BCL11A EPO G6PD HBA1 HBA2 HBB
23 eclampsia 29.6 F2 MTHFR TNF
24 retinal vascular disease 29.5 HBA1 HBA2 MTHFR
25 pre-eclampsia 29.5 F2 MTHFR TNF VCAM1
26 malaria 29.4 ACKR1 EPO G6PD HBA1 HBA2 HBB
27 sickle cell disease 29.1 BCL11A EPO G6PD HBA2 HBB HBG1
28 sickle cell disease associated with an other hemoglobin anomaly 12.2
29 acute chest syndrome 11.7
30 bone marrow necrosis 11.5
31 renal tubular acidosis, distal 11.5
32 roberts syndrome 11.3
33 hpa i recognition polymorphism, beta-globin-related 11.3
34 superior semicircular canal dehiscence 11.3
35 hemoglobin se disease 11.3
36 fetal hemoglobin quantitative trait locus 2 11.2
37 focal segmental glomerulosclerosis 11.2
38 fetal hemoglobin quantitative trait locus 5 11.0
39 endosteal hyperostosis, autosomal dominant 11.0
40 osteomesopyknosis 11.0
41 pulmonary hemosiderosis 10.9
42 priapism 10.5
43 hemosiderosis 10.4
44 avascular necrosis of femoral head, primary, 1 10.3
45 asthma 10.3
46 splenic sequestration 10.3
47 osteomyelitis 10.3
48 pulmonary hypertension 10.3
49 pain - chronic 10.2
50 acquired methemoglobinemia 10.2 G6PD HBG2

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


Acute Cystitis Deficiency Anemia
Hypertension, Essential Iron Deficiency Anemia

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



Diseases related to Sickle Cell Anemia
Sources

Symptoms & Phenotypes for Sickle Cell Anemia

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Symptoms via clinical synopsis from OMIM:

57
Abdomen:
abdominal pain

Neurologic Central Nervous System:
stroke
pain, secondary to vasoocclusion

Genitourinary Kidneys:
renal failure

Abdomen Spleen:
functional asplenia

Skeletal Limbs:
avascular joint necrosis
joint and leg pain

Hematology:
leukocytosis
hypoxemia
hemolysis
sickle cell anemia
anemia, chronic

Cardiovascular Vascular:
pulmonary hypertension
vasculopathy
microcirculatory occlusion
hyperemia

Genitourinary External Genitalia Male:
priapism

Respiratory Lung:
acute chest syndrome

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


Clinical features from OMIM:

603903

Human phenotypes related to Sickle Cell Anemia:

59 32 (show all 39)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 aseptic necrosis 59 32 frequent (33%) Frequent (79-30%) HP:0010885
2 osteoporosis 59 32 frequent (33%) Frequent (79-30%) HP:0000939
3 hemolytic anemia 59 32 Very frequent (99-80%) HP:0001878
4 microcytic anemia 59 32 very rare (1%) Very rare (<4-1%) HP:0001935
5 chronic hemolytic anemia 59 32 obligate (100%) Obligate (100%) HP:0004870
6 recurrent infections 59 32 hallmark (90%) Very frequent (99-80%) HP:0002719
7 abnormality of the spleen 59 32 frequent (33%) Frequent (79-30%) HP:0001743
8 iron deficiency anemia 59 32 frequent (33%) Frequent (79-30%) HP:0001891
9 thrombocytosis 59 32 frequent (33%) Frequent (79-30%) HP:0001894
10 reticulocytosis 59 32 frequent (33%) Frequent (79-30%) HP:0001923
11 leukocytosis 59 32 frequent (33%) Frequent (79-30%) HP:0001974
12 osteomyelitis 59 32 frequent (33%) Frequent (79-30%) HP:0002754
13 pigment gallstones 59 32 frequent (33%) Frequent (79-30%) HP:0011981
14 chest pain 59 32 frequent (33%) Frequent (79-30%) HP:0100749
15 abnormality of the nervous system 59 32 occasional (7.5%) Occasional (29-5%) HP:0000707
16 cholestasis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001396
17 abnormality of the vasculature 59 32 occasional (7.5%) Occasional (29-5%) HP:0002597
18 elevated serum creatinine 59 32 occasional (7.5%) Occasional (29-5%) HP:0003259
19 unconjugated hyperbilirubinemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0008282
20 persistence of hemoglobin f 59 32 occasional (7.5%) Occasional (29-5%) HP:0011904
21 hypoxemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0012418
22 increased lactate dehydrogenase activity 59 32 occasional (7.5%) Occasional (29-5%) HP:0025435
23 increased mean corpuscular volume 59 32 very rare (1%) Very rare (<4-1%) HP:0005518
24 hypertension 32 HP:0000822
25 splenomegaly 32 HP:0001744
26 hepatomegaly 32 HP:0002240
27 renal insufficiency 32 HP:0000083
28 retinopathy 32 HP:0000488
29 cardiomegaly 32 HP:0001640
30 abdominal pain 32 HP:0002027
31 cholelithiasis 32 HP:0001081
32 jaundice 32 HP:0000952
33 hematuria 32 HP:0000790
34 pain 59 Very frequent (99-80%)
35 hypochromic anemia 59 Very rare (<4-1%)
36 stroke 32 HP:0001297
37 recurrent bacterial infections 32 HP:0002718
38 priapism 32 HP:0200023
39 increased red cell sickling tendency 32 HP:0008346

UMLS symptoms related to Sickle Cell Anemia:


angina pectoris, abdominal pain, edema, chest pain

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance GR00327-A 8.92 EPO G6PD HBG2 MTHFR
Sources

Drugs & Therapeutics for Sickle Cell Anemia

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PubMedHealth treatment related to Sickle Cell Anemia: 63

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

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

(show top 50) (show all 429)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Hydroxyurea Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 127-07-1 3657
2
Peginterferon alfa-2a Approved, Investigational Phase 4 198153-51-4 5360545
3
Peginterferon alfa-2b Approved Phase 4 99210-65-8, 215647-85-1
4
Ribavirin Approved Phase 4 36791-04-5 37542
5
Morphine Approved, Investigational Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable 57-27-2 5288826
6
Proguanil Approved Phase 4,Phase 1,Phase 2,Not Applicable 500-92-5 4923
7
Ketamine Approved, Vet_approved Phase 4,Phase 3,Phase 2,Not Applicable 6740-88-1 3821
8
Deferoxamine Approved, Investigational Phase 4,Phase 2,Phase 3 70-51-9 2973
9
Deferiprone Approved Phase 4,Phase 2,Phase 3,Phase 1 30652-11-0 2972
10
Iron Approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 7439-89-6 23925
11
Guaifenesin Approved, Investigational, Vet_approved Phase 4,Phase 1,Phase 2,Not Applicable 93-14-1 3516
12
Deferasirox Approved, Investigational Phase 4,Phase 2,Phase 3 201530-41-8 5493381
13
Desogestrel Approved Phase 4 54024-22-5 40973
14
Etonogestrel Approved, Investigational Phase 4 54048-10-1 6917715 40976
15
Hydromorphone Approved, Illicit Phase 4,Phase 3,Phase 2 466-99-9 5284570
16
Amodiaquine Approved, Investigational Phase 4,Phase 1,Phase 2 86-42-0 2165
17
Pyrimethamine Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 1,Phase 2 58-14-0 4993
18
Sulfadoxine Approved, Investigational Phase 4,Phase 3,Phase 1,Phase 2 2447-57-6 17134
19
Ibuprofen Approved Phase 4,Phase 2,Not Applicable 15687-27-1 3672
20
Ketorolac Approved Phase 4 66635-83-4, 74103-06-3 3826
21
Dextromethorphan Approved Phase 4 125-71-3 5360696 5362449
22
Codeine Approved, Illicit Phase 4,Phase 1,Phase 2 76-57-3 5284371
23
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4,Phase 2 437-38-7 3345
24
Acetaminophen Approved Phase 4,Phase 2,Phase 1,Not Applicable 103-90-2 1983
25
Ergocalciferol Approved, Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1 50-14-6 5280793
26
Vitamin D3 Approved, Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1 67-97-0 5280795 6221
27
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 1406-16-2
28
Citric Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 2,Phase 1,Not Applicable,Early Phase 1 77-92-9 311
29
Dihydroartemisinin Experimental, Investigational Phase 4 71939-50-9 6918483
30
Piperaquine Experimental, Investigational Phase 4 4085-31-8 5079497
31
Heroin Illicit, Investigational Phase 4 561-27-3 5462328
32 Nucleic Acid Synthesis Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
33 Immunologic Factors Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1
34 Anti-Infective Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1
35 Interferon-alpha Phase 4
36 Antimetabolites Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
37 interferons Phase 4
38 Antiviral Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
39 Central Nervous System Depressants Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
40 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
41 Analgesics Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
42 Narcotics Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
43 Analgesics, Opioid Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
44 Antiprotozoal Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
45 Antiparasitic Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
46 Antimalarials Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
47 Anti-Inflammatory Agents, Non-Steroidal Phase 4,Phase 2,Phase 3,Phase 1
48 Antirheumatic Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
49 Analgesics, Non-Narcotic Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
50 Anti-Inflammatory Agents Phase 4,Phase 2,Phase 3,Phase 1

Interventional clinical trials:

(show top 50) (show all 686)
# Name Status NCT ID Phase Drugs
1 Mobile-Directly Observed Therapy on Adherence to Hydroxyurea Unknown status NCT02844673 Phase 4 Hydroxyurea
2 Interferon and Ribavirin Treatment in Patients With Hemoglobinopathies Unknown status NCT00887081 Phase 4 PEG-IFN alpha2a or PEG-IFN alpha2b and Ribavirin
3 Endothelial Function in Patients With Sickle Cell Anemia Before and After Sildenafil Withdrawn NCT00937144 Phase 4 Viagra (Sildenafil);placebo
4 Contraception in Women With Sickle Cell Disease Active, not recruiting NCT02594462 Phase 4 etonogestrel-releasing implant contraceptive
5 Risk Clinical Stratification of Sickle Cell Disease in Nigeria, Assessment of Efficacy/Safety of Hydroxyurea Treatment Active, not recruiting NCT02149537 Phase 4 hydroxyurea
6 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)
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 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
9 Pilot Study on the Effects of Intravenous Ketamine on Acute Pain Crisis in Patients With Sickle Cell Disease Terminated NCT00252122 Phase 4 Ketamine
10 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
11 Future of Spermatogenesis in Men With Sickle Cell Disease Medically Treated Completed NCT01609192 Phase 4 Hydrea® (hydroxyurea )
12 Efficacy and Safety of Ferriprox® in Patients With Sickle Cell Disease or Other Anemias Recruiting NCT02041299 Phase 4 Deferiprone;Deferoxamine
13 Ketorolac Versus Ibuprofen to Treat Painful Episodes of Sickle Cell Disease Terminated NCT00115336 Phase 4 Intravenous Ketorolac;Ibuprofen
14 Assessment of Opioid Analgesia in Sickle Cell Withdrawn NCT00513864 Phase 4 Dextromethorphan;Codeine;Morphine
15 Rejuvesol® Washed RBC in Sickle Cell Patients Requiring Frequent Transfusions Completed NCT02731157 Phase 4 Rejuvesol
16 Immunogenicity and Safety Study of Pneumococcal 7-Valent Conjugate Vaccine in Sickle Cell Disease Infants. Terminated NCT00368186 Phase 4
17 Evaluation of the Impact of Renal Function on the Pharmacokinetics of SIKLOS ® (DARH) Completed NCT02522104 Phase 4 Siklos
18 Intranasal Fentanyl Versus Intravenous Morphine in the Treatment of Severe Painful Sickle Cell Crises in Children Completed NCT03682211 Phase 4 Fentanyl Citrate;Morphine sulphate
19 Does IV Acetaminophen Reduce Opioid Requirement in Pediatric Patients With Acute Sickle Cell Crises? Recruiting NCT03541980 Phase 4 Acetaminophen;Normal saline
20 Intranasal Fentanyl for Initial Treatment of a Vaso-occlusive Crisis Completed NCT01482091 Phase 4 Fentanyl Citrate;Normal Saline
21 Pilot Study for Patients With Poor Response to Deferasirox Completed NCT00749515 Phase 4 Deferoxamine;Deferasirox
22 A Randomized Phase IV Control Trial of Single High Dose Oral Vitamin D3 in Pediatric Patients Undergoing HSCT Enrolling by invitation NCT03176849 Phase 4
23 Transfusion Alternatives Pre-Operatively in Sickle Cell Disease (TAPS) Unknown status NCT00512577 Phase 3
24 Ketamine as an Adjuvant Therapy for Acute Vaso Occlusive Crisis in Pediatric Patients With Sickle Cell Disease Unknown status NCT02801292 Phase 3 Ketamine
25 Vascular Function Intervention Trial in Sickle Cell Disease Unknown status NCT01718054 Phase 2, Phase 3 Chloroquine
26 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
27 Preventing Stroke Triggers in Children With Sickle Cell Anaemia in Mulago Hospital, Kampala (PREST ): a Randomized Control Trial Active, not recruiting NCT03666806 Phase 2, Phase 3
28 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
29 Zinc for Infection Prevention in Sickle Cell Anemia (ZIPS) Not yet recruiting NCT03528434 Phase 3
30 Evaluation of the Lung Capillary Blood Volume in Children With Sickle Cell Disease Completed NCT00560261 Phase 3
31 Sulfadoxine- Pyrimethamine Versus Weekly Chloroquine for Malaria Prevention in Children With Sickle Cell Anemia Completed NCT00399074 Phase 3 sulfadoxine pyrimethamine
32 Stem Cell Transplantation for Sickle Cell Anemia Active, not recruiting NCT01877837 Phase 3 Alemtuzumab;Fludarabine;Melphalan
33 A Study Evaluating the Long-Term Safety of ICA-17043 in Sickle Cell Disease Patients With or Without Hydroxyurea Therapy Terminated NCT00294541 Phase 3 ICA-17043
34 Evaluation of Purified Poloxamer 188 in Vaso-Occlusive Crisis of Sickle Cell Disease (EPIC) Completed NCT01737814 Phase 3 Saline;MST-188
35 Vitamin D Supplementation in Children With Sickle Cell Disease Not yet recruiting NCT03417947 Phase 3
36 Oxygen Therapy and Pregnancy in Sickle Cell Disease Recruiting NCT02813850 Phase 3
37 Sparing Conversion to Abnormal TCD (Transcranial Doppler) Elevation (SCATE) Terminated NCT01531387 Phase 3 Hydroxyurea
38 Study to Evaluate the Effect of GBT440 Administered Orally to Patients With Sickle Cell Disease (GBT_HOPE) Active, not recruiting NCT03036813 Phase 3 GBT440
39 L-Arginine and Sickle Cell Disease Completed NCT01142219 Phase 3 L-arginine;Placebo
40 Effect of Ticagrelor vs. Placebo in the Reduction of Vaso-occlusive Crises in Pediatric Patients With Sickle Cell Disease Recruiting NCT03615924 Phase 3 Ticagrelor;Placebo
41 A Study of Prasugrel in Pediatric Participants With Sickle Cell Disease (SCD) Terminated NCT01794000 Phase 3 Prasugrel;Placebo
42 Study of Two Doses of Crizanlizumab Versus Placebo in Adolescent and Adult Sickle Cell Disease Patients Not yet recruiting NCT03814746 Phase 3 Crizanlizumab (SEG101);Placebo
43 Transcranial Doppler (TCD) With Transfusions Changing to Hydroxyurea Terminated NCT01425307 Phase 3 Hydroxyurea
44 N-Acetylcysteine in Patients With Sickle Cell Disease Completed NCT01849016 Phase 3 N-Acetylcysteine;Placebo
45 Hypnosis to Manage Pain and Symptoms in Patients With Sickle Cell Disease Completed NCT00393250 Phase 3
46 A Study of Patients Having Pulmonary Hypertension Associated With Sickle Cell Disease and Completing an ASSET Study Terminated NCT00360087 Phase 3 Bosentan
47 A Stratified Sickle Event Randomized Trial (ASSERT) Terminated NCT00102791 Phase 3 ICA-17043
48 Study to Evaluate Efficacy and Safety of Oral Treprostinil in Subjects With Pulmonary Hypertension (PH) Associated With Sickle Cell Disease (SCD) Withdrawn NCT03055234 Phase 3 Oral Treprostinil;Placebo
49 Multicenter Study of Hydroxyurea in Patients With Sickle Cell Anemia (MSH) Completed NCT00000586 Phase 3 hydroxyurea
50 Safety Of Rivipansel (GMI-1070) In The Treatment Of One or More Vaso-occlusive Crises In Hospitalized Subjects With Sickle Cell Disease Recruiting NCT02433158 Phase 3 Rivipansel

Search NIH Clinical Center for Sickle Cell Anemia

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


Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Sickle Cell Anemia cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Sickle Cell Anemia:
Bone marrow-derived hematopoietic stem cells for treatment of sickle cell disease
Genetically modified induced pluripotent cells for treatment of sickle cell anemia
Hematopoietic stem cell transplantation for the treatment of genetic blood cell-related diseases
NiCord�, 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

Sources

Genetic Tests for Sickle Cell Anemia

About this section

Genetic tests related to Sickle Cell Anemia:

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

Anatomical Context for Sickle Cell Anemia

About this section

MalaCards organs/tissues related to Sickle Cell Anemia:

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

Publications for Sickle Cell Anemia

About this section

Articles related to Sickle Cell Anemia:

(show top 50) (show all 1357)
# Title Authors Year
1
Hidden hearing loss in children and adolescents with sickle cell anemia. ( 30554696 )
2019
2
Posterior reversible encephalopathy syndrome secondary to asymptomatic poststreptococcal glomerulonephritis in a child with sickle cell anemia: a case report. ( 29386039 )
2018
3
Access to hematopoietic stem cell transplant for patients with sickle cell anemia. ( 29693782 )
2018
4
Sickle cell retinopathy and other chronic complications of sickle cell anemia: A clinical study of 84 Sub-Saharan African cases (Cameroon). ( 29295792 )
2018
5
Feasibility trial for primary stroke prevention in children with sickle cell anemia in Nigeria (SPIN trial). ( 29411418 )
2018
6
Pneumococcal vaccination coverage among children with sickle cell anemia, sickle cell trait, and normal hemoglobin. ( 29905397 )
2018
7
Lower Transcranial Doppler Flow Velocities in Sickle Cell Anemia Patients on Hydroxyurea: Myth or Fact. ( 29398806 )
2018
8
Executive performance on the preschool executive task assessment in children with sickle cell anemia and matched controls. ( 29954249 )
2018
9
Successful Use of Veno-Venous Extracorporeal Membrane Oxygenation in an Adult Patient with Sickle Cell Anemia and Severe Acute Chest Syndrome. ( 29633667 )
2018
10
Diastolic dysfunction is associated with exercise impairment in patients with sickle cell anemia. ( 29781568 )
2018
11
Coexistent sickle-cell anemia and autoimmune disease in eight children: pitfalls and challenges. ( 29343274 )
2018
12
Assessment of Executive Functions in Preschool Children With Sickle Cell Anemia. ( 29843828 )
2018
13
Association between Oxidative Stress, Genetic Factors, and Clinical Severity in Children with Sickle Cell Anemia. ( 29449005 )
2018
14
The clinical epidemiology of sickle cell anemia In Africa. ( 29168218 )
2018
15
White matter integrity and processing speed in sickle cell anemia. ( 29752305 )
2018
16
The first South American case of pre-implantation genetic diagnosis to select compatible embryo for cord blood transplantation as treatment for sickle cell anemia. ( 29345446 )
2018
17
Cognitive profile of children with sickle-cell anemia compared to healthy controls. ( 29957246 )
2018
18
Oxidative Stress in Diabetic Patients with Sickle-Cell Anemia: A Warning Call for Endemic Areas. ( 29744315 )
2018
19
Effects of living at moderate altitude on pulmonary vascular function and exercise capacity in mice with sickle cell anemia. ( 29931797 )
2018
20
Impact of zinc on sexual maturation of female sickle cell anemia (SCA) children in Enugu, Southeast Nigeria. ( 29870301 )
2018
21
Silent cerebral infarct definitions and full-scale IQ loss in children with sickle cell anemia. ( 29263226 )
2018
22
Urinary orosomucoid is associated with progressive chronic kidney disease stage in patients with sickle cell anemia. ( 29327376 )
2018
23
A case for community health programs for sickle cell anemia in low- to middle-income countries: An integrative review. ( 29851151 )
2018
24
Antibiotic Prophylaxis for Children With Sickle Cell Anemia. ( 29437860 )
2018
25
Impact of aerobic exercises on selected inflammatory markers and immune system response among patients with sickle cell anemia in asymptomatic steady state. ( 29977264 )
2018
26
L-glutamine for sickle cell anemia: more questions than answers. ( 29895661 )
2018
27
Angiotensin receptor signaling in sickle cell anemia has a reno-protective effect on urine concentrating ability but results in sickle glomerulopathy. ( 29675906 )
2018
28
Association of the <i>SOD2</i> Polymorphism (Val16Ala) and SOD Activity with Vaso-occlusive Crisis and Acute Splenic Sequestration in Children with Sickle Cell Anemia. ( 29531649 )
2018
29
Spontaneous epidural hematoma secondary to bone infarction in sickle cell anemia: case report. ( 29676678 )
2018
30
Sensorineural hearing loss in children with sickle cell anemia and its association with endothelial dysfunction. ( 29806800 )
2018
31
Carbon Monoxide, Repurposed: Researchers Are Developing Myriad Ways to Deliver CO to Treat Sickle Cell Anemia, Lung Disease, and More. ( 29373851 )
2018
32
Insulin Sensitivity, Inflammation, and Basal Metabolic Rate in Adults with Sickle Cell Anemia. ( 29744323 )
2018
33
Limited Exchange Transfusion Can Be Very Beneficial in Sickle Cell Anemia with Acute Chest Syndrome: A Case Report from Tanzania. ( 30034890 )
2018
34
Association between sickle cell anemia and alpha thalassemia reveals a high prevalence of the α3.7 triplication in congolese patients than in worldwide series. ( 28276593 )
2018
35
Influence of alpha thalassemia on clinical and laboratory parameters among nigerian children with sickle cell anemia. ( 30129219 )
2018
36
Rheological properties of sickle erythrocytes in patients with sickle-cell anemia: The effect of hydroxyurea, fetal hemoglobin, and α-thalassemia. ( 30204261 )
2018
37
Distal renal tubular acidosis in sickle cell anemia. ( 30152444 )
2018
38
Automated red blood cell exchange in preparation for filgrastim mobilization of autologous peripheral blood hematopoietic progenitor cells in a patient with sickle cell anemia. ( 29130518 )
2018
39
Inflammatory molecule reduction with hydroxyurea therapy in children with sickle cell anemia. ( 29146708 )
2018
40
Interleukin-27 and interleukin-37 are elevated in sickle cell anemia patients and inhibit in vitro secretion of interleukin-8 in neutrophils and monocytes. ( 29221667 )
2018
41
Age is a predictor of a small decrease in lung function in children with sickle cell anemia. ( 29226507 )
2018
42
Sleep disordered breathing does not predict acute severe pain episodes in children with sickle cell anemia. ( 29266432 )
2018
43
Progressive glomerular and tubular damage in sickle cell trait and sickle cell anemia mouse models. ( 29476712 )
2018
44
The promise of noninvasive cerebral hemodynamic assessment in sickle cell anemia. ( 29500289 )
2018
45
The effect of xanthine oxidase and hypoxanthine on the permeability of red cells from patients with sickle cell anemia. ( 29504282 )
2018
46
Mortality in children, adolescents and adults with sickle cell anemia in Rio de Janeiro, Brazil. ( 29519371 )
2018
47
Children with sickle cell anemia with normal transcranial Doppler ultrasounds and without silent infarcts have a low incidence of new strokes. ( 29520844 )
2018
48
Proteomic analysis of plasma from children with sickle cell anemia and silent cerebral infarction. ( 29545349 )
2018
49
The Use of Dried Blood Spots: A Potential Tool for the Introduction of a Neonatal Screening Program for Sickle Cell Anemia in Zambia. ( 29552532 )
2018
50
Biological impact of α genes, β haplotypes, and G6PD activity in sickle cell anemia at baseline and with hydroxyurea. ( 29555644 )
2018
Sources

Variations for Sickle Cell Anemia

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

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

ClinVar genetic disease variations for Sickle Cell Anemia:

6 (show all 26)
# Gene Variation Type Significance SNP ID Assembly Location
1 HBB NM_000518.4(HBB): c.271G> A (p.Glu91Lys) single nucleotide variant other rs33913712 GRCh37 Chromosome 11, 5247851: 5247851
2 HBB NM_000518.4(HBB): c.271G> A (p.Glu91Lys) single nucleotide variant other rs33913712 GRCh38 Chromosome 11, 5226621: 5226621
3 HBB NM_000518.4(HBB): c.19G> A (p.Glu7Lys) single nucleotide variant Pathogenic rs33930165 GRCh37 Chromosome 11, 5248233: 5248233
4 HBB NM_000518.4(HBB): c.19G> A (p.Glu7Lys) single nucleotide variant Pathogenic rs33930165 GRCh38 Chromosome 11, 5227003: 5227003
5 HBB NM_000518.4(HBB): c.208G> A (p.Gly70Ser) single nucleotide variant Conflicting interpretations of pathogenicity, other rs33947415 GRCh37 Chromosome 11, 5247914: 5247914
6 HBB NM_000518.4(HBB): c.208G> A (p.Gly70Ser) single nucleotide variant Conflicting interpretations of pathogenicity, other rs33947415 GRCh38 Chromosome 11, 5226684: 5226684
7 HBB NM_000518.4(HBB): c.364G> C (p.Glu122Gln) single nucleotide variant Conflicting interpretations of pathogenicity, other rs33946267 GRCh37 Chromosome 11, 5246908: 5246908
8 HBB NM_000518.4(HBB): c.364G> C (p.Glu122Gln) single nucleotide variant Conflicting interpretations of pathogenicity, other rs33946267 GRCh38 Chromosome 11, 5225678: 5225678
9 HBB NM_000518.4(HBB): c.79G> A (p.Glu27Lys) single nucleotide variant Pathogenic rs33950507 GRCh37 Chromosome 11, 5248173: 5248173
10 HBB NM_000518.4(HBB): c.79G> A (p.Glu27Lys) single nucleotide variant Pathogenic rs33950507 GRCh38 Chromosome 11, 5226943: 5226943
11 HBB NM_000518.4(HBB): c.364G> A (p.Glu122Lys) single nucleotide variant Pathogenic rs33946267 GRCh37 Chromosome 11, 5246908: 5246908
12 HBB NM_000518.4(HBB): c.364G> A (p.Glu122Lys) single nucleotide variant Pathogenic rs33946267 GRCh38 Chromosome 11, 5225678: 5225678
13 HBB NM_000518.4(HBB): c.249G> Y (p.Lys83Asn) single nucleotide variant Pathogenic rs33991993 GRCh37 Chromosome 11, 5247873: 5247873
14 HBB NM_000518.4(HBB): c.249G> Y (p.Lys83Asn) single nucleotide variant Pathogenic rs33991993 GRCh38 Chromosome 11, 5226643: 5226643
15 HBB NM_000518.4(HBB): c.20A> T (p.Glu7Val) single nucleotide variant Pathogenic rs334 GRCh37 Chromosome 11, 5248232: 5248232
16 HBB NM_000518.4(HBB): c.20A> T (p.Glu7Val) single nucleotide variant Pathogenic rs334 GRCh38 Chromosome 11, 5227002: 5227002
17 HBB NM_000518.4(HBB): c.70G> A (p.Val24Ile) single nucleotide variant no interpretation for the single variant rs33929459 GRCh37 Chromosome 11, 5248182: 5248182
18 HBB NM_000518.4(HBB): c.70G> A (p.Val24Ile) single nucleotide variant no interpretation for the single variant rs33929459 GRCh38 Chromosome 11, 5226952: 5226952
19 HBB NM_000518.4(HBB): c.428C> T (p.Ala143Val) single nucleotide variant no interpretation for the single variant rs33921821 GRCh37 Chromosome 11, 5246844: 5246844
20 HBB NM_000518.4(HBB): c.428C> T (p.Ala143Val) single nucleotide variant no interpretation for the single variant rs33921821 GRCh38 Chromosome 11, 5225614: 5225614
21 HBB NM_000518.4(HBB): c.9T> C (p.His3=) single nucleotide variant Benign rs713040 GRCh37 Chromosome 11, 5248243: 5248243
22 HBB NM_000518.4(HBB): c.9T> C (p.His3=) single nucleotide variant Benign rs713040 GRCh38 Chromosome 11, 5227013: 5227013
23 HBB NM_000518.4(HBB): c.*56A> T single nucleotide variant Uncertain significance rs537944366 GRCh37 Chromosome 11, 5246772: 5246772
24 HBB NM_000518.4(HBB): c.*56A> T single nucleotide variant Uncertain significance rs537944366 GRCh38 Chromosome 11, 5225542: 5225542
25 HBB NM_000518.4(HBB): c.*53C> A single nucleotide variant Uncertain significance rs886048393 GRCh37 Chromosome 11, 5246775: 5246775
26 HBB NM_000518.4(HBB): c.*53C> A single nucleotide variant Uncertain significance rs886048393 GRCh38 Chromosome 11, 5225545: 5225545
Sources

Expression for Sickle Cell Anemia

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

Pathways for Sickle Cell Anemia

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

# Super pathways Score Top Affiliating Genes
1
Glucose / Energy Metabolism 4
12.12 G6PD HBB HBG1 MTHFR UGT1A1 UGT1A6
2
Selenium Micronutrient Network 1
Show member pathways
 11.99 F2 HBA1 HBB MTHFR TNF
3
Binding and Uptake of Ligands by Scavenger Receptors 66
Show member pathways
 11.6 HBA1 HBA2 HBB
4
Aryl Hydrocarbon Receptor Pathway 1
11.23 TNF UGT1A1 UGT1A6
5
Erythrocytes take up carbon dioxide and release oxygen 66
Show member pathways
 11.04 HBA1 HBA2 HBB
6
African trypanosomiasis 37
10.9 HBA1 HBA2 HBB TNF VCAM1
7
Cellular roles of Anthrax toxin 1
10.8 TNF VCAM1
8
Malaria 37
10.79 ACKR1 HBA1 HBA2 HBB TNF VCAM1
9
LDL Oxidation in Atherogenesis 64
10.64 TNF VCAM1
Sources

GO Terms for Sickle Cell Anemia

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

# Name GO ID Score Top Affiliating Genes
1 blood microparticle GO:0072562 9.55 F2 HBA1 HBA2 HBB HBG2
2 endocytic vesicle lumen GO:0071682 9.43 HBA1 HBA2 HBB
3 hemoglobin complex GO:0005833 9.35 HBA1 HBA2 HBB HBG1 HBG2
4 haptoglobin-hemoglobin complex GO:0031838 9.02 HBA1 HBA2 HBB HBG1 HBG2

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 blood coagulation GO:0007596 9.76 F2 HBB HBG1 HBG2
2 response to ethanol GO:0045471 9.73 G6PD UGT1A1 VCAM1
3 response to nutrient GO:0007584 9.69 EPO UGT1A1 VCAM1
4 cellular oxidant detoxification GO:0098869 9.65 HBA1 HBA2 HBB HBG1 HBG2
5 response to hydrogen peroxide GO:0042542 9.61 HBA1 HBA2 HBB
6 positive regulation of cell death GO:0010942 9.58 HBA1 HBA2 HBB
7 leukocyte tethering or rolling GO:0050901 9.57 TNF VCAM1
8 cellular glucuronidation GO:0052695 9.55 UGT1A1 UGT1A6
9 protein heterooligomerization GO:0051291 9.55 HBA1 HBA2 HBB HBG1 HBG2
10 erythrocyte maturation GO:0043249 9.54 EPO G6PD
11 bicarbonate transport GO:0015701 9.54 HBA1 HBA2 HBB
12 xenobiotic glucuronidation GO:0052697 9.52 UGT1A1 UGT1A6
13 acute-phase response GO:0006953 9.5 EPO F2 UGT1A1
14 flavonoid glucuronidation GO:0052696 9.49 UGT1A1 UGT1A6
15 response to salt stress GO:0009651 9.48 EPO TNF
16 hydrogen peroxide catabolic process GO:0042744 9.35 HBA1 HBA2 HBB HBG1 HBG2
17 oxygen transport GO:0015671 9.02 HBA1 HBA2 HBB HBG1 HBG2

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

# Name GO ID Score Top Affiliating Genes
1 heme binding GO:0020037 9.77 HBA1 HBA2 HBB HBG1 HBG2
2 oxygen binding GO:0019825 9.72 HBA1 HBA2 HBB HBG1 HBG2
3 peroxidase activity GO:0004601 9.65 HBA1 HBA2 HBB HBG1 HBG2
4 oxygen carrier activity GO:0005344 9.55 HBA1 HBA2 HBB HBG1 HBG2
5 UDP-glycosyltransferase activity GO:0008194 9.4 UGT1A1 UGT1A6
6 organic acid binding GO:0043177 9.35 HBA1 HBA2 HBB HBG1 HBG2
7 haptoglobin binding GO:0031720 9.02 HBA1 HBA2 HBB HBG1 HBG2
Sources

Sources for Sickle Cell Anemia

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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