SCD
MCID: SCK003
MIFTS: 73

Sickle Cell Anemia (SCD) malady

Immune diseases, Blood diseases, Nephrological diseases, Bone diseases categories

Summaries for Sickle Cell Anemia

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42NIH Rare Diseases, 33MedlinePlus, 63Wikipedia, 46OMIM, 32MalaCards
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MedlinePlus:33 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: Sickle Cell Anemia, also known as hemoglobin sc disease, is related to sickle cell disease and beta thalassemia. An important gene associated with Sickle Cell Anemia is HBB (hemoglobin, beta), and among its related pathways are Metabolism and Biological oxidations. The drug sodium phenylbutyrate and the compounds (23S)-23,25-dihdroxy-24-oxovitamine D3 23-(beta-glucuronide) and bilirubin diglucuronide have been mentioned in the context of this disorder. Affiliated tissues include bone, testes and heart.

NIH Rare Diseases:42 Sickle cell anemia is a disease in which the body produces abnormally shaped red blood cells that have a crescent or sickle shape. these cells do not last as long as normal, round, red blood cells, which leads to anemia (low number of red blood cells). the sickle cells also get stuck in blood vessels, blocking blood flow. signs and symptoms of sickle cell disease usually begin in early childhood and may include anemia, repeated infections, and periodic episodes of pain (called crises). this condition is caused by mutations in the hbb gene and is inherited in an autosomal recessive pattern. treatment typically focuses on controlling symptoms and may include pain medicines during crises; hydroxyurea to reduce the number of pain episodes; antibiotics and vaccines to prevent bacterial infections; and blood transfusions. last updated: 11/10/2011

Wikipedia:63 Sickle-cell disease (SCD), or sickle-cell anaemia (SCA) or drepanocytosis, is a hereditary blood... more...

Description from OMIM:46 603903

Aliases & Classifications for Sickle Cell Anemia

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8Disease Ontology, 9diseasecard, 63Wikipedia, 42NIH Rare Diseases, 20GeneTests, 46OMIM, 10DISEASES, 48Orphanet, 33MedlinePlus, 30LifeMap Discovery™, 60UMLS, 56SNOMED-CT, 39NCIt, 27ICD9CM, 34MeSH, 35MESH via Orphanet, 57SNOMED-CT via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet, 25ICD10
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Classifications:



Characteristics (Orphanet epidemiological data):

48
sickle cell anemia:
Inheritance: Autosomal recessive; Prevalence: 1-5/10000; Age of onset: Variable; Age of death: Adult


Aliases & Descriptions:

sickle cell anemia 8 9 63 42 46 10 48 33 30
hemoglobin sc disease 8 42 20 60
hemoglobin s disease 63 42
sickle cell disease 42 48
sickle-cell/hb-c disease without crisis 8
sickling disorder due to hemoglobin s 42
hemoglobin s disease without crisis 8
hb-ss disease without crisis 8
anemia, sickle cell 60
hb-s/hb-c disease 8
sickle cell trait 60
herrick's anemia 63
drepanocytosis 8
hb sc disease 8
hb s disease 63
hbs disease 42
scd 63


External Ids:

Disease Ontology8 DOID:10923
NCIt39 C34383
ICD9CM27 282.6, 282.60
OMIM46 603903
MeSH34 D000755
MESH via Orphanet35 D000755
SNOMED-CT via Orphanet57 127040003, 417357006
ICD10 via Orphanet26 D57.0, D57.1, D57.2
UMLS via Orphanet61 C0002895

Related Diseases for Sickle Cell Anemia

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Sickle Cell Anemia:



Diseases related to sickle cell anemia

Clinical Features for Sickle Cell Anemia

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46OMIM
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Clinical features from OMIM:

603903

Drugs & Therapeutics for Sickle Cell Anemia

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 30LifeMap Discovery™, 60UMLS, 40NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Sickle Cell Anemia

Drug clinical trials:

Search ClinicalTrials for Sickle Cell Anemia

Search NIH Clinical Center for Sickle Cell Anemia

Search CenterWatch for Sickle Cell Anemia

Inferred drug relations via UMLS60/NDF-RT40:

Cell-based therapeutics:


LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine
Read about Sickle Cell Anemia cell therapies at LifeMap Discovery.

Genetic Tests for Sickle Cell Anemia

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20GeneTests
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Genetic tests related to Sickle Cell Anemia:

id Genetic test Affiliating Genes
1 Hemoglobin Sc20 HBB

Anatomical Context for Sickle Cell Anemia

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Sources:
30LifeMap Discovery™, 32MalaCards
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MalaCards organs/tissues related to Sickle Cell Anemia:

32
Bone, Testes, Heart, Lung, Endothelial, Bone marrow, Liver, Brain, Spleen, Kidney, Monocytes, Myeloid, Placenta, Skin, Pancreas, Spinal cord, Colon

LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine

Cells/anatomical compartments in embryo or adult related to Sickle Cell Anemia:
id TissueAnatomical CompartmentCell Relevance
1 BloodPeripheral BloodErythrocytes Potential therapeutic candidate, affected by disease

Animal Models for Sickle Cell Anemia or affiliated genes

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Publications for Sickle Cell Anemia

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50PubMed
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Articles related to Sickle Cell Anemia:

(show top 50)    (show all 638)
idTitleAuthorsYear
1
Transcranial doppler ultrasonography in children with sickle cell anemia: Clinical and laboratory correlates for elevated blood flow velocities. (24166013)
2014
2
Effect of extended-release niacin on serum lipids and on endothelial function in adults with sickle cell anemia and low high-density lipoprotein cholesterol levels. (24035168)
2013
3
Pain and other non-neurological adverse events in children with sickle cell anemia and previous stroke who received hydroxyurea and phlebotomy or chronic transfusions and chelation: results from the SWiTCH clinical trial. (23861242)
2013
4
Red cell indices: differentiation between I^-thalassemia trait and iron deficiency anemia and application to sickle cell disease and sickle cell thalassemia. (23492565)
2013
5
Relationship between antibiotic resistance and sickle cell anemia: preliminary evidence from a pediatric carriage study in Ghana. (23930075)
2013
6
Short-term femoral catheter insertion: a promising alternative to consistently allow long-term erythrocytapheresis therapy in children with sickle cell anemia. (23092526)
2013
7
Seroprevalence of parvovirus B19 antibodies and evidence of viremia among Nigerian patients with sickle cell anemia. (23885266)
2013
8
Hematological and Genetic Predictors of Daytime Hemoglobin Saturation in Tanzanian Children with and without Sickle Cell Anemia. (23691341)
2013
9
Wheezing Symptoms and Parental Asthma Are Associated with a Physician Diagnosis of Asthma in Children with Sickle Cell Anemia. (24388323)
2013
10
Left ventricular dyssynchrony is an early manifestation of heart involvement in sickle cell anemia. (23305504)
2013
11
Exploring barriers and facilitators to clinical trial enrollment in the context of sickle cell anemia and hydroxyurea. (23418000)
2013
12
Prevalence of intracranial stenosis and silent cerebral infarcts in children with sickle cell anemia and low risk of stroke. (24024926)
2013
13
Comment on "The burden and quality of life of caregivers of sickle cell anemia patients taking hydroxyurea versus those not taking hydroxyurea". (23049434)
2012
14
The burden and quality of life of caregivers of sickle cell anemia patients taking hydroxyurea versus those not taking hydroxyurea. (23049439)
2012
15
Impact of psychiatric diagnoses on hospital length of stay in children with sickle cell anemia. (21425450)
2012
16
Sickle cell anemia: a significant potential cause of pulmonary hypertension in Brazil. (22407053)
2012
17
White matter damage in asymptomatic patients with sickle cell anemia: screening with diffusion tensor imaging. (22595904)
2012
18
Anemia, age, desaturation, and impaired neurocognition in sickle cell anemia. (22949104)
2012
19
Impact of I^(S)-globin haplotypes on oxidative stress in patients with sickle cell anemia in steady state. (23085440)
2012
20
Morbidity and pregnancy outcomes associated with sickle cell anemia among Saudi women. (22986097)
2012
21
Gated myocardial perfusion scintigraphy in children with sickle cell anemia: correlation with echocardiography. (21458111)
2011
22
Homozygous sickle cell anemia and secondary complications: a case study. (21657139)
2011
23
Absence of association between TNF-I+ polymorphism and cerebral large-vessel abnormalities in adults with sickle cell anemia. (21160173)
2011
24
Exercise limitation, exercise testing and exercise recommendations in sickle cell anemia. (22214686)
2011
25
Airway hyperresponsiveness in children with sickle cell anemia. (20724735)
2011
26
Ala-9Val polymorphism of Mn-SOD gene in sickle cell anemia. (21574139)
2011
27
Stroke With Transfusions Changing to Hydroxyurea (SWiTCH): a phase III randomized clinical trial for treatment of children with sickle cell anemia, stroke, and iron overload. (21826782)
2011
28
Glomerular hyperfiltration in adult sickle cell anemia: a frequent hemolysis associated feature. (20185605)
2010
29
Lactate dehydrogenase as a predictor of kidney involvement in patients with sickle cell anemia. (20517617)
2010
30
Duffy-negative is associated with hemolytic phenotype of sickle cell anemia. (20638342)
2010
31
Orbital compression syndrome presenting as orbital cellulitis in a child with sickle cell anemia. (20386412)
2010
32
Neuropsychological dysfunction and neuroimaging abnormalities in neurologically intact adults with sickle cell anemia. (20460621)
2010
33
Assessment of genotoxicity associated with hydroxyurea therapy in children with sickle cell anemia. (20230905)
2010
34
Fetal hemoglobin in sickle cell anemia: genome-wide association studies suggest a regulatory region in the 5' olfactory receptor gene cluster. (20018918)
2010
35
Red blood cell aggregation, aggregate strength and oxygen transport potential of blood are abnormal in both homozygous sickle cell anemia and sickle-hemoglobin C disease. (19644138)
2009
36
Exchange versus simple transfusion for acute chest syndrome in sickle cell anemia adults. (19309475)
2009
37
Genetics: Newborn screening for sickle cell anemia. (19826159)
2009
38
Subperiosteal hematoma and orbital compression syndrome following minor frontal trauma in sickle cell anemia: case report. (18516430)
2008
39
Hydroxyurea for sickle cell anemia. (18609755)
2008
40
Sibling history of asthma is a risk factor for pain in children with sickle cell anemia. (18819094)
2008
41
Cytokine concentrations in bone marrow of stable sickle cell anemia patients. (17362693)
2007
42
Gianotti Crosti syndrome associated with transfusion acquired hepatitis B virus infection in a patient of sickle cell anemia. (17456924)
2007
43
Chronic liver disease in a patient with sickle cell anemia. (17438649)
2006
44
The influence of uridine diphosphate glucuronosyl transferase 1A promoter polymorphisms, beta-globin gene haplotype, co-inherited alpha-thalassemia trait and Hb F on steady-state serum bilirubin levels in sickle cell anemia. (16004608)
2005
45
Molecular analysis of beta-thalassemia and sickle cell anemia in Antalya. (15153712)
2004
46
Increased levels of endothelin-1 in plasma of sickle cell anemia patients. (9746804)
1998
47
Protein S deficiency in sickle cell anemia. (2966224)
1988
48
Cerebrovascular accident during a delayed hemolytic transfusion reaction in a patient with sickle cell anemia. (3717883)
1986
49
Variation in the amount of hemoglobin S in a patient with sickle cell trait and megaloblastic anemia. (13953594)
1963
50
Solitary splenic abscess associated with sickle cell anemia. (13224029)
1954

Genetic Variations for Sickle Cell Anemia

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Expression for genes affiliated with Sickle Cell Anemia

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Sickle Cell Anemia

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

Pathways for genes affiliated with Sickle Cell Anemia

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53Reactome, 29KEGG, 37NCBI BioSystems Database, 49PharmGKB, 12EMD Millipore
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Pathways related to Sickle Cell Anemia according to GeneCards/GeneDecks:

(show all 12)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
10.6G6PD, UGT1A4, UGT1A1, UGT1A5, UGT1A10, UGT1A7
2
Hide members
10.6UGT1A4, UGT1A1, UGT1A5, UGT1A10, UGT1A7, UGT1A3
3
Hide members
10.6UGT1A4, UGT1A1, UGT1A5, UGT1A10, UGT1A7, UGT1A3
4
Hide members
10.6UGT1A4, UGT1A1, UGT1A5, UGT1A10, UGT1A7, UGT1A3
5
Hide members
10.6UGT1A3, UGT1A7, UGT1A10, UGT1A1, UGT1A4
6
Acetaminophen metabolism
Hide members
10.5UGT1A4, UGT1A1, UGT1A10, UGT1A3
7
Hide members
10.5UGT1A4, UGT1A1, UGT1A10, UGT1A3
8
Hide members
10.5UGT1A3, UGT1A1, UGT1A4
9
Hide members
10.5UGT1A3, UGT1A10, UGT1A1
1010.5UGT1A4, UGT1A10, UGT1A3
11
Hide members
10.5UGT1A10, UGT1A4
1210.5UGT1A3, UGT1A10

Compounds for genes affiliated with Sickle Cell Anemia

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24HMDB, 44Novoseek, 28IUPHAR, 11DrugBank, 49PharmGKB, 59Tocris Bioscience, 2BitterDB
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Compounds related to Sickle Cell Anemia according to GeneCards/GeneDecks:

(show top 50)    (show all 53)
idCompoundScoreTop Affiliating Genes
1(23S)-23,25-dihdroxy-24-oxovitamine D3 23-(beta-glucuronide)2411.0UGT1A1, UGT1A4, UGT1A5, UGT1A10, UGT1A7, UGT1A3
2bilirubin diglucuronide44 2412.0UGT1A3, UGT1A7, UGT1A10, UGT1A5, UGT1A1, UGT1A4
3etiocholanolone44 2412.0UGT1A3, UGT1A10, UGT1A5, UGT1A1, UGT1A4, UGT1A7
4aldosterone 18-glucuronide44 2412.0UGT1A10, UGT1A5, UGT1A1, UGT1A3, UGT1A4, UGT1A7
5androsterone glucuronide44 2412.0UGT1A10, UGT1A1, UGT1A5, UGT1A7, UGT1A3, UGT1A4
63-alpha-androstanediol glucuronide44 2412.0UGT1A4, UGT1A1, UGT1A5, UGT1A10, UGT1A7, UGT1A3
7estriol28 11 2413.0UGT1A4, UGT1A3, UGT1A7, UGT1A1, UGT1A10, UGT1A5
8codeine44 49 28 11 2415.0UGT1A1, UGT1A5, UGT1A10, UGT1A7, UGT1A3, UGT1A4
92-methoxyestradiol44 59 2413.0UGT1A1, UGT1A3, UGT1A7, UGT1A10, UGT1A5, UGT1A4
10testosterone44 59 11 2414.0G6PD, UGT1A3, UGT1A5, HPR, UGT1A4, UGT1A1
11ethyl glucuronide44 2412.0UGT1A4, UGT1A10, UGT1A7, UGT1A3, UGT1A1
12glucuronide4411.0UGT1A4, UGT1A1, UGT1A10, UGT1A7, UGT1A3
13estrone44 28 11 2414.0UGT1A4, UGT1A1, UGT1A5, UGT1A7, UGT1A3, UGT1A10
14valproic acid44 49 11 2414.0UGT1A3, UGT1A7, UGT1A10, UGT1A1, UGT1A4, HBG1
15cotinine44 2412.0UGT1A4, UGT1A1, UGT1A10, UGT1A7, UGT1A3
16uridine diphosphate4411.0UGT1A3, UGT1A4, UGT1A7, UGT1A10, UGT1A1
17imipramine44 49 28 11 2415.0UGT1A3, UGT1A7, UGT1A10, UGT1A1, UGT1A4
18n-hydroxy phip4411.0UGT1A10, UGT1A1, UGT1A4, UGT1A7
19tamoxifen44 49 28 1114.0UGT1A1, HPR, HBB, G6PD, UGT1A4, UGT1A3
20acetaminophen44 2 49 11 2415.0UGT1A4, G6PD, UGT1A7, UGT1A10, UGT1A1
21amine4411.0UGT1A3, UGT1A7, UGT1A1, UGT1A4, HBB
22benzidine4411.0UGT1A4, HBB, HBG1, UGT1A1
23estradiol44 11 2412.9UGT1A4, UGT1A3, UGT1A7, UGT1A10, UGT1A1, UGT1A5
24nicotine44 49 28 1113.9UGT1A4, UGT1A3, UGT1A7, UGT1A10, UGT1A1
25propofol44 49 1112.9UGT1A3, UGT1A10, UGT1A1, UGT1A4
26retinoic acid44 2411.9UGT1A4, UGT1A5, UGT1A1, UGT1A10, UGT1A7, UGT1A3
27Ezogabine 1110.9UGT1A1, UGT1A4, UGT1A3
28lamotrigine44 1111.9UGT1A4, UGT1A1, UGT1A3
29troglitazone44 28 59 1113.9UGT1A10, UGT1A3, UGT1A4, UGT1A1
30mycophenolic acid44 49 1112.9UGT1A1, UGT1A7, UGT1A10
31p-nitrophenol44 1111.9UGT1A3, UGT1A1, UGT1A4
32valine4410.9GLA, G6PD, HBB, HPR
33diclofenac44 28 49 1113.8UGT1A4, UGT1A1, UGT1A3
34n-acetylbenzidine4410.8UGT1A1, UGT1A4
35lactose44 1111.8G6PD, GLA, HPR
36estrogen4410.8UGT1A4, UGT1A1, UGT1A10, HBB, HPR, G6PD
37sn38 glucuronide4410.8UGT1A7, UGT1A1
38uridine44 11 2412.8UGT1A4, UGT1A7, UGT1A1
39eltrombopag49 1111.8UGT1A1, UGT1A3
40losartan44 49 28 1113.8UGT1A3, UGT1A10, UGT1A1
4123-diphosphoglycerate4410.7HBB, G6PD
42udp glucuronic acid4410.7UGT1A10, UGT1A1
43glucose 6-phosphate44 2411.7G6PD, HBB, UGT1A1
44hydroxyurea44 49 1112.7UGT1A1, HBG1, HBB
45dimethyl sulfate4410.6HBB, HBG1
46azathioprine44 49 2 1113.6HBB, HBG1, G6PD
47morphine44 49 28 1113.5UGT1A3, UGT1A1, UGT1A4
48porphobilinogen44 11 2412.5HBG1, HBB
49fructose-1,6-bisphosphate4410.4HPR, G6PD
50flunitrazepam44 28 1112.2UGT1A3, UGT1A1

GO Terms for genes affiliated with Sickle Cell Anemia

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16Gene Ontology
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Cellular components related to Sickle Cell Anemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1hemoglobin complexGO:00583310.5HBB, HBG1
2endoplasmic reticulum membraneGO:00578910.3UGT1A3, UGT1A7, UGT1A10, UGT1A5, UGT1A1, UGT1A4

Biological processes related to Sickle Cell Anemia according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1flavone metabolic processGO:05155210.7UGT1A7, UGT1A1, UGT1A10
2xenobiotic glucuronidationGO:05269710.7UGT1A1, UGT1A7, UGT1A3
3flavonoid glucuronidationGO:05269610.7UGT1A1, UGT1A7, UGT1A3
4cellular glucuronidationGO:05269510.6UGT1A10, UGT1A1, UGT1A4
5retinoic acid metabolic processGO:04257310.6UGT1A1, UGT1A7, UGT1A3
6metabolic processGO:00815210.5UGT1A3, UGT1A10, UGT1A5
7erythrocyte maturationGO:04324910.5G6PD, KLF2
8detection of chemical stimulus involved in sensory perception of smellGO:05091110.4OR51B6, OR51B5, OR51B2
9sensory perception of smellGO:00760810.2OR51B2, OR51B5, OR51B6

Molecular functions related to Sickle Cell Anemia according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1glucuronosyltransferase activityGO:01502010.7UGT1A3, UGT1A7, UGT1A10, UGT1A5, UGT1A1, UGT1A4
2retinoic acid bindingGO:00197210.7UGT1A4, UGT1A1, UGT1A10, UGT1A7, UGT1A3
3protein homodimerization activityGO:04280310.7G6PD, UGT1A4, UGT1A1, UGT1A10, UGT1A7, UGT1A3
4protein heterodimerization activityGO:04698210.6UGT1A4, UGT1A1, UGT1A10, UGT1A7, UGT1A3, BCL11A
5oxygen transporter activityGO:00534410.5HBB, HBG1
6enzyme bindingGO:01989910.5UGT1A4, UGT1A1, UGT1A10, UGT1A7, UGT1A3
7hemoglobin bindingGO:03049210.2HPR, HBB

Products for genes affiliated with Sickle Cell Anemia

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  • Antibodies
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Sources for Sickle Cell Anemia

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet