SKCA
MCID: SCK003
MIFTS: 71

Sickle Cell Anemia (SKCA) malady

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

Aliases & Classifications for Sickle Cell Anemia

Aliases & Descriptions for Sickle Cell Anemia:

Name: Sickle Cell Anemia 54 38 12 71 50 24 56 66 13 41 14
Hemoglobin Sc Disease 12 50 42 69
Sickle Cell-Hemoglobin C Disease Syndrome 50 56 29
Sickle Cell Disease 56 66
Anemia, Sickle Cell 42 69
Hbsc Disease 50 56
Sc Disease 24 52
Sickle-Cell/hb-C Disease Without Crisis 12
Sickling Disorder Due to Hemoglobin S 50
Hemoglobin S Disease Without Crisis 12
Sickle Cell - Hemoglobin C Disease 50
Hb-Ss Disease Without Crisis 12
Hemoglobin S Disease 50
Hb-S/hb-C Disease 12
Sickle Cell Trait 69
Drepanocytosis 12
Hb Sc Disease 12
Hemoglobin Sc 24
Hemoglobin Ss 24
Hbs Disease 50
Skca 66

Characteristics:

Orphanet epidemiological data:

56
sickle cell anemia
Inheritance: Autosomal recessive; Prevalence: 1-5/10000 (France),1-5/10000 (United States),1-5/10000 (Europe); Age of onset: All ages; Age of death: adult,early childhood,infantile;
sickle cell-hemoglobin c disease syndrome
Inheritance: Autosomal recessive; Age of onset: All ages;

HPO:

32
sickle cell anemia:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 603903
Disease Ontology 12 DOID:10923
UMLS via Orphanet 70 C0002895 C0019034
ICD10 via Orphanet 34 D57.0 D57.1 D57.2
MESH via Orphanet 43 D000755
MedGen 40 C0002895

Summaries for Sickle Cell Anemia

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

MalaCards based summary : Sickle Cell Anemia, also known as hemoglobin sc disease, is related to hepatitis b and acute chest syndrome, and has symptoms including chest pain, aseptic necrosis and osteoporosis. An important gene associated with Sickle Cell Anemia is HBB (Hemoglobin Subunit Beta), and among its related pathways/superpathways are Folate Metabolism and Glucose / Energy Metabolism. The drugs Zinc and Iron have been mentioned in the context of this disorder. Affiliated tissues include Blood, bone and testes.

NIH Rare Diseases : 50 hemoglobin sc disease, is a type of sickle cell disease, which means it affects the shape of the red blood cells. red blood cells contain a protein called hemoglobin, which is responsible for carrying blood throughout the body. people with hemoglobin sc disease have red blood cells that are differently shaped and therefore do not carry oxygen as effectively. symptoms of hemoglobin sc disease include anemia and episodes of fatigue and extreme pain (vaso-occlusive crisis). the severity of the symptoms can vary from person to person. hemoglobin sc disease is caused by mutations in the gene that tells our bodies how to make hemoglobin. these mutations cause changes in the shape of the red blood cells. people affected by hemoglobin sc disease need to be especially careful to avoid infection and should be checked regularly by doctors to make sure all of the organs in the body are functioning properly. in times when the anemia becomes severe, a person affected by hemoglobin sc disease may require a blood transfusion. a bone marrow transplant may also be recommended depending on the severity of the symptoms.  last updated: 11/11/2016

OMIM : 54 Sickle cell anemia is a multisystem disease associated with episodes of acute illness and progressive organ damage.... (603903) more...

UniProtKB/Swiss-Prot : 66 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.

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 191)
id Related Disease Score Top Affiliating Genes
1 hepatitis b 29.5 EPO G6PD HBA2 HBB
2 acute chest syndrome 11.5
3 bone marrow necrosis 11.3
4 deficiency anemia 11.3
5 fetal hemoglobin quantitative trait locus 2 10.9
6 thalassemia 10.5
7 cerebritis 10.3
8 cutaneous pseudolymphoma 10.3 G6PD HBG2
9 chronic laryngitis 10.2 HBA1 HBB
10 tendinopathy 10.2 G6PD HBG2
11 setariasis 10.2 G6PD HBB HBG2
12 acute liver failure 10.2 EPO HBB HBG1
13 geniculate ganglionitis 10.2 G6PD HBB TNF
14 sepsis in premature infants 10.2 HBB HBG1 HBG2
15 costello syndrome 10.2 HBB HBG1 HBG2
16 hemopneumothorax 10.1 F2 HBA1
17 endotheliitis 10.1
18 priapism 10.1
19 hemoglobin c disease 10.1
20 hypersensitivity pneumonitis, familial 10.1 HBA1 HBA2
21 endometriosis of uterus 10.1 G6PD HBB HBG2 UGT1A1
22 borderline leprosy 10.1 HBB UGT1A1 UGT1A6
23 renal artery disease 10.1 G6PD UGT1A1 UGT1A6
24 chronic lymphocytic leukemia 10.1 G6PD HBG2 TNF
25 ichthyosis, congenital, autosomal recessive 8 10.1 HBA1 HBA2
26 asbestosis 10.1 F2 TNF VCAM1
27 pyeloureteritis cystica 10.1 G6PD UGT1A1 UGT1A6
28 asthma 10.1
29 tmem216-related meckel syndrome 10.1 EPO HBA2 HBB
30 hydrocephalus due to congenital stenosis of aqueduct of sylvius 10.1 HBA1 HBA2
31 vagus nerve neoplasm 10.1 G6PD HBB HBG1 UGT1A1
32 isolated atp synthase deficiency 10.1 BCL11A HBB HBG1 HBG2
33 cardiomyopathy, dilated, 1w 10.1 G6PD HBA2 HBB
34 splenic sequestration 10.1
35 michelin tire baby syndrome 10.1 HBA1 HBA2 HBB
36 surfactant metabolism dysfunction, pulmonary, 3 10.1 HBA1 HBA2 HBB
37 cat-scratch disease 10.1 EPO G6PD HBA2
38 cervix small cell carcinoma 10.1 F2 TNF VCAM1
39 hepatitis 10.1
40 cerebrovascular disease 10.1
41 parovarian cyst 10.1 F2 TNF
42 oxyphilic adenoma 10.1 F2 HBA1 HBB HBS1L
43 tmem237-related joubert syndrome 10.0 EPO HBA2 HBB UGT1A1
44 pulmonary hypertension 10.0
45 neuronal ceroid-lipofuscinoses 10.0 EPO G6PD HBA1 HBB HBG2
46 cholelithiasis 10.0
47 anterior foramen magnum meningioma 10.0 CD40LG EPO TNF
48 dentin caries 10.0 CD40LG HBS1L TNF
49 paroxysmal nonkinesigenic dyskinesia 2 10.0 HBA1 HBA2
50 alzheimer's disease 11 10.0 HBA1 HBA2

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

Clinical features from OMIM:

603903

Human phenotypes related to Sickle Cell Anemia:

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

UMLS symptoms related to Sickle Cell Anemia:


abdominal pain, angina pectoris, chest pain, edema

Drugs & Therapeutics for Sickle Cell Anemia

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

(show top 50) (show all 470)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Zinc Approved Phase 4,Phase 3,Phase 2 7440-66-6 32051 23994
2
Iron Approved Phase 4,Phase 2,Phase 3,Phase 1 7439-89-6 23925
3
Metformin Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 657-24-9 14219 4091
4
Hydroxyurea Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 127-07-1 3657
5
Deferoxamine Approved, Investigational Phase 4,Phase 2,Phase 3 70-51-9 2973
6
Ribavirin Approved Phase 4,Phase 3,Phase 2 36791-04-5 37542
7
Deferiprone Approved Phase 4,Phase 2,Phase 3,Phase 1 30652-11-0 2972
8
Deferasirox Approved, Investigational Phase 4,Phase 2,Phase 3 201530-41-8 5493381
9
Peginterferon alfa-2a Approved, Investigational Phase 4,Phase 2 198153-51-4 5360545
10
Peginterferon alfa-2b Approved Phase 4,Phase 3 99210-65-8, 215647-85-1
11
Heparin Approved, Investigational Phase 4,Phase 3,Phase 2 9005-49-6 772 46507594
12
Pioglitazone Approved, Investigational Phase 4,Phase 3,Phase 2 111025-46-8 4829
13
Methotrexate Approved Phase 4,Phase 3,Phase 2,Phase 1 1959-05-2, 59-05-2 126941
14
Morphine Approved, Investigational Phase 4,Phase 3,Phase 1,Phase 2 57-27-2 5288826
15
Glimepiride Approved Phase 4,Phase 3 93479-97-1 3476
16
Dapsone Approved, Investigational Phase 4 80-08-0 2955
17
Exenatide Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 141758-74-9 15991534
18
Codeine Approved, Illicit Phase 4,Phase 1,Phase 2 76-57-3 5284371
19
Hydromorphone Approved, Illicit Phase 4,Phase 3,Phase 2 466-99-9 5284570
20
Liraglutide Approved Phase 4,Phase 3,Phase 2 204656-20-2
21
Benzocaine Approved Phase 4,Phase 3,Phase 2,Phase 1 1994-09-7, 94-09-7 2337
22
Menthol Approved Phase 4,Phase 1,Phase 2 2216-51-5 16666
23
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4,Phase 2 437-38-7 3345
24
Dalteparin Approved Phase 4,Phase 3,Phase 2 9041-08-1
25
Insulin Glargine Approved Phase 4,Phase 3,Phase 2 160337-95-1
26
Insulin-glulisine Approved Phase 4,Phase 3,Phase 2 207748-29-6
27
Darbepoetin alfa Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 11096-26-7, 209810-58-2
28
Insulin Lispro Approved Phase 4,Phase 3,Phase 2 133107-64-9
29
Guaifenesin Approved, Vet_approved Phase 4,Phase 1,Phase 2 93-14-1 3516
30 Dulaglutide Approved Phase 4,Phase 3,Phase 2 923950-08-7
31
Ibuprofen Approved Phase 4,Phase 2 15687-27-1 3672
32
Ketamine Approved, Vet_approved Phase 4,Phase 3,Phase 2 6740-88-1 3821
33
Desogestrel Approved Phase 4 54024-22-5 40973
34
Etonogestrel Approved, Investigational Phase 4 54048-10-1 40976 6917715
35
Tranylcypromine Approved Phase 4 155-09-9 441233
36
Tranexamic Acid Approved Phase 4 1197-18-8 5526
37
Heroin Approved, Illicit Phase 4 561-27-3 5462328
38
Adalimumab Approved Phase 4 331731-18-1 16219006
39
Acarbose Approved, Investigational Phase 4 56180-94-0 441184
40
Ketorolac Approved Phase 4 74103-06-3, 66635-83-4 3826
41
Linagliptin Approved Phase 4 668270-12-0 10096344
42
leucovorin Approved, Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1 58-05-9 54575, 6560146 143
43
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 59-30-3 6037
44 tannic acid Approved, Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1
45 insulin Phase 4,Phase 3,Phase 2
46 interferons Phase 4,Phase 3,Phase 2
47 Analgesics Phase 4,Phase 3,Phase 2,Phase 1
48
protease inhibitors Phase 4,Phase 2,Phase 3,Phase 1
49 Chelating Agents Phase 4,Phase 2,Phase 3,Phase 1
50 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Phase 1

Interventional clinical trials:

(show top 50) (show all 787)
id Name Status NCT ID Phase
1 Interferon and Ribavirin Treatment in Patients With Hemoglobinopathies Unknown status NCT00887081 Phase 4
2 The ACT-OUT Trial: ACTivity OUTcomes Based on High Carbohydrate or High Fat Diet in Metabolic Syndrome Unknown status NCT01357382 Phase 4
3 Comparing Acute Pain Management Protocols for Patients With Sickle Cell Disease Completed NCT02222246 Phase 4
4 Future of Spermatogenesis in Men With Sickle Cell Disease Medically Treated Completed NCT01609192 Phase 4
5 Evaluation of the Impact of Renal Function on the Pharmacokinetics of SIKLOS ® (DARH) Completed NCT02522104 Phase 4
6 Intranasal Fentanyl for Initial Treatment of a Vaso-occlusive Crisis Completed NCT01482091 Phase 4
7 Pilot Study for Patients With Poor Response to Deferasirox Completed NCT00749515 Phase 4
8 A Study of Mircera in Renal Anemia Among Filipino Chronic Kidney Disease Patients Completed NCT00922610 Phase 4
9 STAAR-3 Clinical Study Completed NCT00369733 Phase 4
10 STAAR-2 Clinical Study Completed NCT00368901 Phase 4
11 A Study of The Effect of Altitude on Mircera (Methoxy Polyethylene Glycol-Epoetin Beta) Dose Requirements in Patients With Chronic Renal Anemia in Pre-Dialysis or Dialysis Completed NCT01519947 Phase 4
12 A Study of Epoetin Beta (NeoRecormon) in Participants With Solid Tumors or Hematologic Malignancies Completed NCT02564094 Phase 4
13 A Study of Subcutaneous Mircera for the Maintenance Treatment of Participants With Chronic Renal Anemia Completed NCT00642668 Phase 4
14 Study of Safety and Effectiveness of Apidra® in Combination With Basal Insulin in Patients With Type 1 & 2 Diabetes Mellitus Completed NCT00526513 Phase 4
15 A Study of Once Monthly Subcutaneous Mircera in Patients With Chronic Renal Anemia Not on Dialysis Completed NCT00922116 Phase 4
16 A Study of Epoetin Beta (NeoRecormon) in Participants With Solid Tumors Completed NCT02554942 Phase 4
17 Anaemia Correction in Haemodialyzed Patients - Comparative Analysis of Two Erythropoietin Stimulating Agents Schedules Completed NCT00551603 Phase 4
18 Hematologic Response of Epoetin Alfa (PROCRIT) Versus Darbepoetin Alfa (ARANESP) in Chemotherapy Induced Anemia Completed NCT00315484 Phase 4
19 Study of Transplant Related Anemia Treated With Aranesp® (STRATA) Completed NCT00117065 Phase 4
20 Correction of Anaemia and Progression of Renal Failure on Transplanted Patients Completed NCT00396435 Phase 4
21 Comparison of Insulin Mix25 Versus Mix50 Completed NCT01773473 Phase 4
22 Comparison of Two Approaches to Insulin Therapy in Patients With Type 2 Diabetes (IOOX) Completed NCT00377858 Phase 4
23 Study of Human Regular U-500 Insulin in Adult Participants With Type 2 Diabetes Completed NCT01774968 Phase 4
24 A Study for Patients With Diabetes Mellitus (IOPA) Completed NCT00420095 Phase 4
25 Exenatide Once Weekly, Cardiovascular Risk and Type-2 Diabetes Completed NCT02380521 Phase 4
26 Phase IV Study to Gather More Information About the Safety of ACZONE Gel, 5% in Treating Subjects With Acne Who Have G6PD Deficiency Completed NCT00243542 Phase 4
27 A Study of Ribavirin in Combination With PEGASYS (Peginterferon Alfa-2a (40KD))in Patients With Chronic Hepatitis C Completed NCT00922779 Phase 4
28 High Dose Versus Standard Dose of Ribavirin in Patients With Chronic Hepatitis C, Genotype 3 Completed NCT00830609 Phase 4
29 A Study of PEGASYS (Peginterferon Alfa-2a (40KD)) Plus COPEGUS (Ribavirin) With or Without Pioglitazone in Treatment-Naive Patients With Chronic Hepatitis C and Insulin Resistance. Completed NCT00545233 Phase 4
30 A Study of PEGASYS (Peginterferon Alfa-2a) Plus Ribavirin in Patients With Chronic Hepatitis C (CHC), Genotype 2 or 3 Completed NCT01258101 Phase 4
31 Efficacy and Safety of Ferriprox® in Patients With Sickle Cell Disease or Other Anemias Recruiting NCT02041299 Phase 4
32 Rejuvesol® Washed RBC in Sickle Cell Patients Requiring Frequent Transfusions Recruiting NCT02731157 Phase 4
33 A Study of Basal Insulin Analog and Insulin Analog Mid Mixture in Chinese Participants With Type 2 Diabetes Mellitus Recruiting NCT03018938 Phase 4
34 A Study of Epoetin Beta Treatment in Anemic Participants With Myelodysplastic Syndrome (MDS) Recruiting NCT02145026 Phase 4
35 Frailty and Cognitive Function Assessment of TAVI Patients Recruiting NCT02650388 Phase 4
36 Contraception in Women With Sickle Cell Disease Active, not recruiting NCT02594462 Phase 4
37 Risk Clinical Stratification of Sickle Cell Disease in Nigeria, Assessment of Efficacy/Safety of Hydroxyurea Treatment Active, not recruiting NCT02149537 Phase 4
38 A Study of Dulaglutide in Japanese Participants With Type 2 Diabetes Active, not recruiting NCT02750410 Phase 4
39 Long-term Safety and Efficacy of Ferriprox® in Iron Overloaded Patients With Sickle Cell Disease or Other Anemias Enrolling by invitation NCT02443545 Phase 4
40 Mobile-Directly Observed Therapy on Adherence to Hydroxyurea Enrolling by invitation NCT02844673 Phase 4
41 Enhancing Preventive Therapy of Malaria In Children With Sickle Cell Anemia in East Africa (EPiTOMISE) Not yet recruiting NCT03178643 Phase 4
42 A Randomized Phase IV Control Trial of Single High Dose Oral Vitamin D3 in Pediatric Patients Undergoing HSCT Not yet recruiting NCT03176849 Phase 4
43 Topical Tranexamic Acid and Floseal® in Total Knee Arthroplasty Not yet recruiting NCT02865174 Phase 4
44 Ketorolac Versus Ibuprofen to Treat Painful Episodes of Sickle Cell Disease Terminated NCT00115336 Phase 4
45 Ibuprofen and Opioid (Morphine or Diamorphine) for Acute Pain in Sickle Cell Disease - Sickle With Ibuprofen & Morphine Terminated NCT00880373 Phase 4
46 Pilot Study on the Effects of Intravenous Ketamine on Acute Pain Crisis in Patients With Sickle Cell Disease Terminated NCT00252122 Phase 4
47 Immunogenicity and Safety Study of Pneumococcal 7-Valent Conjugate Vaccine in Sickle Cell Disease Infants. Terminated NCT00368186 Phase 4
48 A Study of Subcutaneous Mircera, Versus no Erythropoiesis-Stimulating Agent (ESA) Therapy, in the Treatment of Anemia in Patients With Chronic Kidney Disease After Kidney Transplant Terminated NCT00576602 Phase 4
49 A Study of RoActemra/Actemra (Tocilizumab) Versus Adalimumab in Combination With Methotrexate (MTX) in Patients With Moderate to Severe Active Rheumatoid Arthritis And an Inadequate Response to Treatment With Only One Tumor Necrosis Factor (TNF)-Inhibitor Terminated NCT01283971 Phase 4
50 Raptiva in Palm and Sole Psoriasis Terminated NCT00972543 Phase 4

Search NIH Clinical Center for Sickle Cell Anemia

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


Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Sickle Cell Anemia cell therapies at LifeMap Discovery.

Cochrane evidence based reviews: hemoglobin sc disease

Genetic Tests for Sickle Cell Anemia

Genetic tests related to Sickle Cell Anemia:

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

Anatomical Context for Sickle Cell Anemia

MalaCards organs/tissues related to Sickle Cell Anemia:

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

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

Publications for Sickle Cell Anemia

Articles related to Sickle Cell Anemia:

(show top 50) (show all 785)
id Title Authors Year
1
Cerebral hemodynamics and pseudo-continuous arterial spin labeling considerations in adults with sickle cell anemia. ( 28052565 )
2017
2
Pulmonary hypertension in Nigerian adults with sickle cell anemia. ( 28507438 )
2017
3
Evaluating risk factors for chronic kidney disease in pediatric patients with sickle cell anemia. ( 28382567 )
2017
4
Red blood cell transfusions during sickle cell anemia vaso-occlusive crises: a report from the magnesium in crisis (MAGiC) study. ( 28500682 )
2017
5
Towards a point-of-care strip test to diagnose sickle cell anemia. ( 28520780 )
2017
6
Are dental and jaw changes more prevalent in a Brazilian population with sickle cell anemia? ( 28412236 )
2017
7
A comment on improving transcranial Doppler ultrasonography screening in children with sickle cell anemia. ( 28335074 )
2017
8
Association between diffuse myocardial fibrosis and diastolic dysfunction in sickle cell anemia. ( 28507082 )
2017
9
Association of classical markers and establishment of the dyslipidemic sub-phenotype of sickle cell anemia. ( 28399852 )
2017
10
Reversal of pre-capillary pulmonary hypertension in a patient with sickle cell anemia who underwent haploidentical peripheral blood stem cell transplantation. ( 28067884 )
2017
11
Nocturnal enuresis in school-aged children with sickle-cell anemia: Any relationship with hyposthenuria? ( 28091440 )
2017
12
Doppler velocimetry of the orbital arteries in patients with sickle cell anemia: relationship with biomarkers of hemolysis. ( 28428653 )
2017
13
Therapeutic strategies in Sickle Cell Anemia: The past present and future. ( 28435037 )
2017
14
Spirometric Evaluation of Pulmonary Function in Nigerian Children underwent Bone Marrow Transplantation for Sickle Cell Anemia. ( 28512559 )
2017
15
Biomechanics and biorheology of red blood cells in sickle cell anemia. ( 27876368 )
2017
16
Differences of microparticle patterns between sickle cell anemia and hemoglobin SC patients. ( 28489923 )
2017
17
Feasibility Trial for Primary Stroke Prevention in Children with Sickle Cell Anemia in Nigeria (SPIN Trial). ( 28439953 )
2017
18
A reappraisal of the mechanisms underlying the cardiac complications of sickle cell anemia. ( 28453224 )
2017
19
Measurements of red cell deformability and hydration reflect HbF and HbA2 in blood from patients with sickle cell anemia. ( 28472705 )
2017
20
Sickle cell anemia in sub-Saharan Africa: advancing the clinical paradigm through partnerships and research. ( 27821508 )
2017
21
Heme-mediated cell activation: the inflammatory puzzle of sickle cell anemia. ( 28482712 )
2017
22
"Fish-mouth" vertebrae in sickle cell anemia. ( 28401280 )
2017
23
Gum Arabic as novel anti-oxidant agent in sickle cell anemia, phase II trial. ( 28331623 )
2017
24
Protective BCL11A and HBS1L-MYB polymorphisms in a cohort of 102 Congolese patients suffering from sickle cell anemia. ( 28332727 )
2017
25
Homozygosity for a haplotype in the HBG2-OR51B4 region is exclusive to Arab-Indian haplotype sickle cell anemia. ( 27185208 )
2016
26
High Prevalence of Individuals with Low Concentration of Fetal Hemoglobin in F-cells in Sickle Cell Anemia in Tanzania. ( 27085091 )
2016
27
Association of adenylyl cyclase 6 rs3730070 polymorphism and hemolytic level in patients with sickle cell anemia. ( 27067484 )
2016
28
Hemodynamic mechanisms underlying elevated oxygen extraction fraction (OEF) in moyamoya and sickle cell anemia patients. ( 28029271 )
2016
29
Abnormal expression of inflammatory genes in placentas of women with sickle cell anemia and sickle hemoglobin C disease. ( 27546026 )
2016
30
High-Output Heart Failure in Sickle Cell Anemia. ( 27609152 )
2016
31
Nonhematopoietic Nrf2 dominantly impedes adult progression of sickle cell anemia in mice. ( 27158670 )
2016
32
Invasive bacterial infections in Gambians with sickle cell anemia in an era of widespread pneumococcal and hemophilus influenzae type b vaccination. ( 27930540 )
2016
33
Longitudinal MRI and Ferritin Monitoring of Iron Overload in Chronically Transfused and Chelated Children With Sickle Cell Anemia and Thalassemia Major. ( 27548334 )
2016
34
Hormonal and echocardiographic abnormalities in adult patients with sickle-cell anemia in Bahrain. ( 28008293 )
2016
35
APOL1, Alpha thalassemia, and BCL11A variants as a genetic risk profile for progression of chronic kidney disease in sickle cell anemia. ( 27658436 )
2016
36
Doppler-Defined Pulmonary Hypertension in Sickle Cell Anemia in Kurdistan, Iraq. ( 27583566 )
2016
37
Examination of Reticulocytosis among Chronically Transfused Children with Sickle Cell Anemia. ( 27116614 )
2016
38
Pediatric Liver Transplantation in Sickle Cell Anemia: A Case of Extrahepatic Biliary Atresia. ( 27169716 )
2016
39
PRIMARY STROKE PREVENTION IN CHILDREN WITH SICKLE CELL ANEMIA LIVING IN AFRICA: THE FALSE CHOICE BETWEEN PATIENT-ORIENTED RESEARCH AND HUMANITARIAN SERVICE. ( 28066035 )
2016
40
Exhaled nitric oxide: Not associated with asthma, symptoms, or spirometry in children with sickle cell anemia. ( 27521278 )
2016
41
Sickle cell anemia - Nitric oxide related genetic modifiers of hematological and biochemical parameters. ( 27802215 )
2016
42
Albuminuria, serum antioxidant enzyme levels and markers of hemolysis and inflammation in steady state children with sickle cell anemia. ( 27855647 )
2016
43
Angiotensin-converting enzyme insertion/deletion polymorphism is not associated with vasoocclusive complications of sickle cell anemia. ( 27857895 )
2016
44
Fetal Hemoglobin Modifies the Disease Manifestation of Severe Plasmodium Falciparum Malaria in Adult Patients with Sickle Cell Anemia. ( 27872735 )
2016
45
Plasma eicosanoid profiles determined by high-performance liquid chromatography coupled with tandem mass spectrometry in stimulated peripheral blood from healthy individuals and sickle cell anemia patients in treatment. ( 26968567 )
2016
46
Secondary benefit of maintaining normal transcranial Doppler velocities when using hydroxyurea for prevention of severe sickle cell anemia. ( 28035747 )
2016
47
Predictive models of six-minute walking distance in adults with sickle cell anemia: Implications for rehabilitation. ( 27814863 )
2016
48
Septorhinoplasty in sickle cell anemia: a case report. ( 27600353 )
2016
49
Pain frequency, severity and QT dispersion in adult patients with sickle cell anemia: correlation with inflammatory markers. ( 27843377 )
2016
50
Massive Esophageal Variceal Bleeding as a Rare Complication of Sickle Cell Anemia. ( 26958556 )
2016

Variations for Sickle Cell Anemia

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

66
id Symbol AA change Variation ID SNP ID
1 HBB p.Glu7Val VAR_002863 rs334

ClinVar genetic disease variations for Sickle Cell Anemia:

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

Expression for Sickle Cell Anemia

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

Pathways for Sickle Cell Anemia

GO Terms for Sickle Cell Anemia

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

id Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.92 CD40LG EPO F2 HBA1 HBA2 HBB
2 external side of plasma membrane GO:0009897 9.67 CD40LG F2 TNF VCAM1
3 blood microparticle GO:0072562 9.65 F2 HBA1 HBA2 HBB HBG2
4 endocytic vesicle lumen GO:0071682 9.33 HBA1 HBA2 HBB
5 haptoglobin-hemoglobin complex GO:0031838 9.13 HBA1 HBA2 HBB
6 hemoglobin complex GO:0005833 9.02 HBA1 HBA2 HBB HBG1 HBG2

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

(show all 17)
id Name GO ID Score Top Affiliating Genes
1 response to ethanol GO:0045471 9.74 G6PD UGT1A1 VCAM1
2 blood coagulation GO:0007596 9.73 F2 HBB HBG1 HBG2
3 response to nutrient GO:0007584 9.7 EPO UGT1A1 VCAM1
4 cellular oxidant detoxification GO:0098869 9.69 HBA1 HBA2 HBB
5 protein heterooligomerization GO:0051291 9.65 HBA1 HBA2 HBB
6 response to hydrogen peroxide GO:0042542 9.58 HBA1 HBA2 HBB
7 cellular glucuronidation GO:0052695 9.56 UGT1A1 UGT1A6
8 leukocyte tethering or rolling GO:0050901 9.55 TNF VCAM1
9 erythrocyte maturation GO:0043249 9.54 EPO G6PD
10 bicarbonate transport GO:0015701 9.5 HBA1 HBA2 HBB
11 xenobiotic glucuronidation GO:0052697 9.49 UGT1A1 UGT1A6
12 response to salt stress GO:0009651 9.46 EPO TNF
13 positive regulation of cell death GO:0010942 9.43 HBA1 HBA2 HBB
14 regulation of immunoglobulin secretion GO:0051023 9.37 CD40LG TNF
15 acute-phase response GO:0006953 9.33 EPO F2 UGT1A1
16 hydrogen peroxide catabolic process GO:0042744 9.13 HBA1 HBA2 HBB
17 oxygen transport GO:0015671 9.02 HBA1 HBA2 HBB HBG1 HBG2

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

id Name GO ID Score Top Affiliating Genes
1 iron ion binding GO:0005506 9.72 HBA1 HBA2 HBB HBG1 HBG2
2 heme binding GO:0020037 9.65 HBA1 HBA2 HBB HBG1 HBG2
3 peroxidase activity GO:0004601 9.54 HBA1 HBA2 HBB
4 oxygen binding GO:0019825 9.35 HBA1 HBA2 HBB HBG1 HBG2
5 haptoglobin binding GO:0031720 9.33 HBA1 HBA2 HBB
6 oxygen transporter activity GO:0005344 9.02 HBA1 HBA2 HBB HBG1 HBG2

Sources for Sickle Cell Anemia

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