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 bilirubin diglucuronide and (23S)-23,25-dihdroxy-24-oxovitamine D3 23-(beta-glucuronide) 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, 46OMIM, 10DISEASES, 48Orphanet, 33MedlinePlus, 30LifeMap Discovery™, 20GeneTests, 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
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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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30LifeMap Discovery™, 32MalaCards
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MalaCards organs/tissues related to Sickle Cell Anemia:

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

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 velocity and brain MRI/MRA changes in children with sickle cell anemia on chronic transfusions to prevent primary stroke. (23625812)
2013
2
Sudden death in a case of sickle cell anemia: post-mortem computed tomography and autopsy correlation from a radiologist's perspective. (23453001)
2013
3
Peg-interfon alpha-2a and low-dose ribavirin for treatment of hepatitis C virus infection in patients with sickle-cell anemia in Saudi Arabia. (24413867)
2013
4
Relationships between systemic vascular resistance, blood rheology and nitric oxide in children with sickle cell anemia or sickle cell-hemoglobin C disease. (23302597)
2013
5
Safety of pegfilgrastim (neulasta) in patients with sickle cell trait/anemia. (24396616)
2013
6
Fetal hemoglobin in sickle cell anemia: genetic studies of the Arab-Indian haplotype. (23465615)
2013
7
Who counsels parents of newborns who are carriers of sickle cell anemia or cystic fibrosis? (22903793)
2013
8
Association between Sickle Cell Anemia and Pulp Necrosis. (23321227)
2013
9
Environmental tobacco smoke and airway obstruction in children with sickle cell anemia. (23681054)
2013
10
Tissue Doppler echocardiographic findings of left ventricle in children with sickle-cell anemia. (23304178)
2012
11
Delayed beneficial effect of acute exercise on red blood cell aggregate strength in patients with sickle cell anemia. (22414551)
2012
12
Traditional herbal management of sickle cell anemia: lessons from Nigeria. (23198140)
2012
13
Spontaneous epidural hematoma: a rare complication of sickle cell anemia. (21483142)
2011
14
Frequency of pain crises in sickle cell anemia and its relationship with the sympatho-vagal balance, blood viscosity and inflammation. (21750084)
2011
15
Impact of hydroxyurea on perioperative management and outcomes in children with sickle cell anemia. (21941139)
2011
16
Mortality in sickle cell anemia in Africa: a prospective cohort study in Tanzania. (21358818)
2011
17
Tricuspid regurgitant velocity elevation in a three-year old child with sickle cell anemia and recurrent acute chest syndromes reversed not by hydroxyurea but by bone marrow transplantation. (22184533)
2011
18
The association between hydroxyurea treatment and pain intensity, analgesic use, and utilization in ambulatory sickle cell anemia patients. (21481164)
2011
19
Atrial septal defect closure on cardiopulmonary bypass in a sickle cell anemia: role of hydroxyurea and partial exchange transfusion. (20442545)
2010
20
Adherence to hydroxyurea therapy in children with sickle cell anemia. (19880135)
2010
21
Hydroxyurea-induced expression of glutathione peroxidase 1 in red blood cells of individuals with sickle cell anemia. (19951064)
2010
22
Human platelet alloantigens (HPA) 1, HPA2, HPA3, HPA4, and HPA5 polymorphisms in sickle cell anemia patients with vaso-occlusive crisis. (19702628)
2009
23
Influence of pregnancy on bone mass in sickle cell anemia. (20306733)
2009
24
Acute splenic sequestration in children with sickle cell anemia. (19668914)
2009
25
Bone marrow transplantation or hydroxyurea for sickle cell anemia: long-term effects on semen variables and hormone profiles. (19437321)
2009
26
Dental aesthetics assessed against orthodontic treatment complexity and need in Nigerian patients with sickle-cell anemia. (19886937)
2009
27
Investigational drugs in sickle cell anemia. (19780709)
2009
28
Putting a new spin on CNS events in children with sickle cell anemia. (19006246)
2009
29
Severe neurologic complication after delayed hemolytic transfusion reaction in 2 children with sickle cell anemia: significant diagnosis and therapeutic challenges. (19131783)
2008
30
Chronic hyper-hemolysis in sickle cell anemia: association of vascular complications and mortality with less frequent vasoocclusive pain. (18461136)
2008
31
Acute splenic sequestration crisis in adults with sickle cell anemia. (16924644)
2007
32
Quality of sleep and pulmonary function in clinically stable adolescents with sickle cell anemia. (17906788)
2007
33
HLA-E*0101 allele in homozygous state favors severe bacterial infections in sickle cell anemia. (17961774)
2007
34
Blood transfusion rate in Congolese patients with sickle cell anemia. (17785895)
2007
35
Parvovirus B19 infection in Tunisian patients with sickle-cell anemia and acute erythroblastopenia. (17961236)
2007
36
UGT1A1 polymorphism outweighs the modest effect of deletional (-3.7 kb) alpha-thalassemia on cholelithogenesis in sickle cell anemia. (16628735)
2006
37
A C677T methylenetetrahydrofolate reductase (MTHFR) polymorphism and G20210A mutation in the prothrombin gene of sickle cell anemia patients from Northeast Brazil. (15481892)
2004
38
Polymorphism of the human platelet antigen-5 system is a risk factor for occlusive vascular complications in patients with sickle cell anemia. (15355504)
2004
39
Successful treatment of refractory autoimmune hemolytic anemia with monthly rituximab following nonmyeloablative stem cell transplantation for sickle cell disease. (15111785)
2004
40
BetaS-haplotypes in sickle cell anemia patients from Salvador, Bahia, Northeastern Brazil. (14502357)
2003
41
Short period of administration of diethylstilbestrol in stuttering priapism in sickle cell anemia. (11921029)
2002
42
Effect of alpha-thalassemia and beta-globin gene cluster haplotypes on the hematological and clinical features of sickle-cell anemia in Brazil. (8892730)
1996
43
Successful use of extracorporeal membrane oxygenation in the treatment of acute chest syndrome in a child with severe sickle cell anemia. (8725698)
1996
44
Age dependence of the gene frequency of alpha-thalassemia in sickle cell anemia in Cuba. (8781453)
1996
45
Early detection and the course of glomerular injury in patients with sickle cell anemia. (8648921)
1996
46
Alpha thalassemia and stroke risk in sickle cell anemia. (8178798)
1994
47
Erythropoietin in anemia of renal failure in sickle cell disease. (1891029)
1991
48
A mutation associated with elevated G gamma chain in sickle cell anemia and hereditary persistence of fetal hemoglobin. (2413470)
1985
49
Biliary tract disease in sickle cell anemia: surgical considerations. (5098228)
1971
50
Pregnancy with sickle cell anemia and placenta accreta. (14942979)
1952

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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44Novoseek, 24HMDB, 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
1bilirubin diglucuronide44 2412.0UGT1A3, UGT1A4, UGT1A1, UGT1A5, UGT1A10, UGT1A7
2(23S)-23,25-dihdroxy-24-oxovitamine D3 23-(beta-glucuronide)2411.0UGT1A4, UGT1A1, UGT1A5, UGT1A10, UGT1A7, UGT1A3
3aldosterone 18-glucuronide44 2412.0UGT1A7, UGT1A10, UGT1A5, UGT1A1, UGT1A4, UGT1A3
4etiocholanolone44 2412.0UGT1A4, UGT1A1, UGT1A5, UGT1A10, UGT1A7, UGT1A3
5androsterone glucuronide44 2412.0UGT1A4, UGT1A1, UGT1A5, UGT1A10, UGT1A7, UGT1A3
63-alpha-androstanediol glucuronide44 2412.0UGT1A4, UGT1A1, UGT1A5, UGT1A10, UGT1A7, UGT1A3
7estriol28 11 2413.0UGT1A4, UGT1A1, UGT1A5, UGT1A10, UGT1A7, UGT1A3
8codeine44 49 28 11 2415.0UGT1A4, UGT1A1, UGT1A5, UGT1A10, UGT1A7, UGT1A3
92-methoxyestradiol44 59 2413.0UGT1A4, UGT1A1, UGT1A5, UGT1A10, UGT1A7, UGT1A3
10testosterone44 59 11 2414.0G6PD, UGT1A4, UGT1A1, UGT1A5, UGT1A10, UGT1A7
11ethyl glucuronide44 2412.0UGT1A4, UGT1A1, UGT1A10, UGT1A7, UGT1A3
12glucuronide4411.0UGT1A4, UGT1A1, UGT1A10, UGT1A7, UGT1A3
13estrone44 28 11 2414.0UGT1A4, UGT1A1, UGT1A5, UGT1A10, UGT1A7, UGT1A3
14valproic acid44 49 11 2414.0UGT1A4, UGT1A1, UGT1A10, UGT1A7, UGT1A3, HBG1
15cotinine44 2412.0UGT1A4, UGT1A1, UGT1A10, UGT1A7, UGT1A3
16uridine diphosphate4411.0UGT1A3, UGT1A7, UGT1A10, UGT1A1, UGT1A4
17imipramine44 49 28 11 2415.0UGT1A4, UGT1A1, UGT1A10, UGT1A7, UGT1A3
18n-hydroxy phip4411.0UGT1A4, UGT1A1, UGT1A10, UGT1A7
19tamoxifen44 49 28 1114.0G6PD, UGT1A4, UGT1A1, UGT1A3, HBB, HPR
20acetaminophen44 2 49 11 2415.0G6PD, UGT1A4, UGT1A1, UGT1A10, UGT1A7
21amine4411.0UGT1A4, UGT1A1, UGT1A7, UGT1A3, HBB
22benzidine4411.0HBB, HBG1, UGT1A1, UGT1A4
23estradiol44 11 2412.9UGT1A4, UGT1A1, UGT1A5, UGT1A10, UGT1A7, UGT1A3
24nicotine44 49 28 1113.9UGT1A4, UGT1A1, UGT1A10, UGT1A7, UGT1A3
25propofol44 49 1112.9UGT1A4, UGT1A1, UGT1A10, UGT1A3
26retinoic acid44 2411.9UGT1A4, UGT1A1, UGT1A5, UGT1A10, UGT1A7, UGT1A3
27Ezogabine 1110.9UGT1A3, UGT1A1, UGT1A4
28lamotrigine44 1111.9UGT1A3, UGT1A1, UGT1A4
29troglitazone44 28 59 1113.9UGT1A4, UGT1A1, UGT1A10, UGT1A3
30mycophenolic acid44 49 1112.9UGT1A1, UGT1A10, UGT1A7
31p-nitrophenol44 1111.9UGT1A3, UGT1A1, UGT1A4
32valine4410.9G6PD, GLA, HBB, HPR
33diclofenac44 28 49 1113.8UGT1A3, UGT1A1, UGT1A4
34n-acetylbenzidine4410.8UGT1A1, UGT1A4
35lactose44 1111.8G6PD, GLA, HPR
36estrogen4410.8G6PD, UGT1A4, UGT1A1, UGT1A10, HBB, HPR
37sn38 glucuronide4410.8UGT1A7, UGT1A1
38uridine44 11 2412.8UGT1A4, UGT1A1, UGT1A7
39eltrombopag49 1111.8UGT1A3, UGT1A1
40losartan44 49 28 1113.8UGT1A3, UGT1A10, UGT1A1
4123-diphosphoglycerate4410.7HBB, G6PD
42udp glucuronic acid4410.7UGT1A10, UGT1A1
43glucose 6-phosphate44 2411.7G6PD, UGT1A1, HBB
44hydroxyurea44 49 1112.7HBB, HBG1, UGT1A1
45dimethyl sulfate4410.6HBG1, HBB
46azathioprine44 49 2 1113.6HBB, HBG1, G6PD
47morphine44 49 28 1113.5UGT1A4, UGT1A1, UGT1A3
48flunitrazepam44 28 1112.5UGT1A3, UGT1A1
49fructose-1,6-bisphosphate4410.4HPR, G6PD
50porphobilinogen44 11 2412.2HBB, HBG1

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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Sources for Sickle Cell Anemia

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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