MCID: THL016
MIFTS: 53

Thalassemias, Alpha-

Categories: Genetic diseases, Rare diseases, Immune diseases, Blood diseases

Aliases & Classifications for Thalassemias, Alpha-

MalaCards integrated aliases for Thalassemias, Alpha-:

Name: Thalassemias, Alpha- 54
Alpha-Thalassemia 12 23 50 24 25 56 71 52 42 69
Alpha Thalassemia 12 50 24 25 29 14
Thalassemia, Alpha- 54 13
Alpha^+^ Thalassemia 69
Alpha Thalassaemia 12
a-Thalassemia 50
Α-Thalassemia 25
Thalassemia 69
a-Thal 71

Characteristics:

Orphanet epidemiological data:

56
alpha-thalassemia
Inheritance: Autosomal recessive; Age of onset: All ages; Age of death: normal life expectancy;

Classifications:



External Ids:

OMIM 54 604131
Disease Ontology 12 DOID:1099
ICD10 33 D56.0 D56 D56.9
ICD9CM 35 282.43
MeSH 42 D017085
NCIt 47 C34368
SNOMED-CT 64 191186002 68913001
Orphanet 56 ORPHA846
MESH via Orphanet 43 D017085
UMLS via Orphanet 70 C0002312 C1456873
ICD10 via Orphanet 34 D56.0
MedGen 40 C0002312
UMLS 69 C0002312

Summaries for Thalassemias, Alpha-

UniProtKB/Swiss-Prot : 71 Alpha-thalassemia: A form of thalassemia. Thalassemias are common monogenic diseases occurring mostly in Mediterranean and Southeast Asian populations. The hallmark of alpha-thalassemia is an imbalance in globin-chain production in the adult HbA molecule. The level of alpha chain production can range from none to very nearly normal levels. Deletion of both copies of each of the two alpha-globin genes causes alpha(0)- thalassemia, also known as homozygous alpha thalassemia. Due to the complete absence of alpha chains, the predominant fetal hemoglobin is a tetramer of gamma-chains (Bart hemoglobin) that has essentially no oxygen carrying capacity. This causes oxygen starvation in the fetal tissues leading to prenatal lethality or early neonatal death. The loss of two alpha genes results in mild alpha-thalassemia, also known as heterozygous alpha-thalassemia. Affected individuals have small red cells and a mild anemia (microcytosis). If three of the four alpha- globin genes are functional, individuals are completely asymptomatic. Some rare forms of alpha-thalassemia are due to point mutations (non- deletional alpha-thalassemia).

MalaCards based summary : Thalassemias, Alpha-, also known as alpha-thalassemia, is related to hemoglobin h disease, nondeletional and alpha thalassemia-x-linked intellectual disability syndrome, and has symptoms including cognitive impairment, splenomegaly and jaundice. An important gene associated with Thalassemias, Alpha- is HBA2 (Hemoglobin Subunit Alpha 2), and among its related pathways/superpathways are Glucose / Energy Metabolism and AMPK Enzyme Complex Pathway. The drugs Peginterferon alfa-2a and Peginterferon alfa-2b have been mentioned in the context of this disorder. Affiliated tissues include bone, heart and skin, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and growth/size/body region

NIH Rare Diseases : 50 alpha-thalassemia is a blood disorder that reduces the body's production of hemoglobin. affected people have anemia, which can cause pale skin, weakness, fatigue, and more serious complications. two types of alpha-thalassemia can cause health problems: the more severe type is known as hb bart syndrome; the milder form is called hbh disease. hb bart syndrome may be characterized by hydrops fetalis; severe anemia; hepatosplenomegaly; heart defects; and abnormalities of the urinary system or genitalia. most babies with this condition are stillborn or die soon after birth. hbh disease may cause mild to moderate anemia; hepatosplenomegaly; jaundice; or bone changes. alpha-thalassemia typically results from deletions involving the hba1 and hba2 genes. the inheritance is complex, and can be read about here. no treatment is effective for hb bart syndrome. for hbh disease, occasional red blood cell transfusions may be needed. last updated: 7/29/2015

Genetics Home Reference : 25 Alpha thalassemia is a blood disorder that reduces the production of hemoglobin. Hemoglobin is the protein in red blood cells that carries oxygen to cells throughout the body.

Disease Ontology : 12 Alpha thalassemia is a thalassemia involving the genes HBA1and HBA2 hemoglobin genes.

Wikipedia : 72 Alpha-thalassemia (α-thalassemia, α-thalassaemia) is a form of thalassemia involving the genes HBA1 and... more...

Description from OMIM: 604131
GeneReviews: NBK1435

Related Diseases for Thalassemias, Alpha-

Diseases related to Thalassemias, Alpha- via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 52)
id Related Disease Score Top Affiliating Genes
1 hemoglobin h disease, nondeletional 23.9 ATRX BCS1L DAXX G6PD HBA1 HBA2
2 alpha thalassemia-x-linked intellectual disability syndrome 12.5
3 thalassemia 11.3
4 spastic paraplegia 16, x-linked 10.9 HBA1 HBA2
5 alpha-thalassemia-abnormal morphogenesis 10.9
6 neuropathy, ataxia, and retinitis pigmentosa 10.9 HBA1 HBA2
7 wolman disease 10.8 HBA1 HBA2
8 hepatitis b reinfection following liver transplantation 10.8 HBB HBG1
9 unclassified vasculitis 10.8 HBB HBG1
10 paroxysmal nonkinesigenic dyskinesia 2 10.7 HBA1 HBA2
11 adult-onset distal myopathy due to vcp mutation 10.7 HBB HBD
12 methylmalonic acidemia with homocystinuria 10.7 HBA1 HBA2 HBB
13 gaba-transaminase deficiency 10.7 HBA1 HBA2 HBB
14 distal arthrogryposis 10.7 HBA1 HBA2 HBB
15 thalassemia, hispanic gamma-delta-beta 10.7
16 neuropathy, hereditary sensory and autonomic, type ic 10.7 HBA1 HBA2
17 hepatic infarction 10.7 HBB HBD
18 tjp2-related familial hypercholanemia 10.7 HBA2 HBB UGT1A1
19 acute leukemia 10.7 HBA2 HBB HBG1
20 nephrotic syndrome 14 10.6 G6PD HBA2 HBB
21 central epithelioid sarcoma 10.6 HBB HBD
22 cat-scratch disease 10.6 G6PD HBA1 HBA2
23 ovarian disease 10.6 HBA1 HBA2
24 mental retardation-hypotonic facies syndrome, x-linked 10.6 ATRX HELLS
25 nodular degeneration of cornea 10.6 G6PD HBB UGT1A1
26 cyanosis, transient neonatal 10.6 HBB HBD HBG1
27 kluver-bucy syndrome 10.6 SMARCA2 SMARCA4
28 neuroendocrine tumor of the colon 10.5 ATRX DAXX
29 bile duct cystadenoma 10.5 HBB HBD HBE1
30 basal cell carcinoma 10.5 SMARCA2 SMARCA4
31 infertility due to extratesticular cause 10.5 SMARCA2 SMARCA4
32 timothy syndrome type 2 10.5 HBA2 HBB
33 autosomal genetic disease 10.5 BCS1L HBB HBE1
34 aica-ribosiduria due to atic deficiency 10.5 SMARCA2 SMARCA4
35 molybdenum cofactor deficiency c 10.5 HBB HBE1 NPRL3
36 immunodeficiency, common variable, 10 10.4 SMARCA2 SMARCA4
37 microphthalmia, syndromic 13 10.4 G6PD HBA1
38 thalassemia-beta, dominant inclusion-body 10.3 HBA1 HBA2 HBB HBG1 UGT1A1
39 glucosephosphate dehydrogenase deficiency 10.3 HBB HBD HBE1 SCN2A
40 intracranial structure hemangioma 10.3 HBB HBD
41 bartholin's gland adenoma 10.3 HBB HBD HBQ1
42 bipartite talus 10.2 HBA1 HBA2
43 alzheimer's disease 7 10.1 ATRX SMARCA1 SMARCA2 SMARCA4
44 endometrial adenocarcinoma 10.0 HBA1 HBA2 HBB HBD HBG1 UGT1A1
45 spastic paraplegia 8 10.0 G6PD HBA2 HBB HBD HBG1 UGT1A1
46 adult malignant mesenchymoma 9.9 G6PD HBA2 HBB HBD HBE1 HBG1
47 lymphoplasmacytic lymphoma 9.9 ATRX HBB HBD HBE1 HBG1 SCN2A
48 vagus nerve neoplasm 9.8 G6PD HBB HBE1 HBG1 NPRL3 UGT1A1
49 alpha-thalassemia/mental retardation syndrome 9.5
50 sickle cell anemia 9.5 G6PD HBA2 HBB HBD HBE1 HBG1

Comorbidity relations with Thalassemias, Alpha- via Phenotypic Disease Network (PDN):


Acute Cystitis Deficiency Anemia
Familial Atrial Fibrillation Heart Disease
Intermediate Coronary Syndrome Iron Deficiency Anemia
Ischemic Heart Disease

Graphical network of the top 20 diseases related to Thalassemias, Alpha-:



Diseases related to Thalassemias, Alpha-

Symptoms & Phenotypes for Thalassemias, Alpha-

Clinical features from OMIM:

604131

Human phenotypes related to Thalassemias, Alpha-:

56 32 (show all 14)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cognitive impairment 56 32 occasional (7.5%) Occasional (29-5%) HP:0100543
2 splenomegaly 56 32 occasional (7.5%) Occasional (29-5%) HP:0001744
3 jaundice 56 32 occasional (7.5%) Occasional (29-5%) HP:0000952
4 hemolytic anemia 56 32 occasional (7.5%) Occasional (29-5%) HP:0001878
5 hypersplenism 56 32 occasional (7.5%) Occasional (29-5%) HP:0001971
6 cholelithiasis 56 32 occasional (7.5%) Occasional (29-5%) HP:0001081
7 hydrops fetalis 56 32 occasional (7.5%) Occasional (29-5%) HP:0001789
8 microcytic anemia 56 32 hallmark (90%) Very frequent (99-80%) HP:0001935
9 myelodysplasia 56 32 occasional (7.5%) Occasional (29-5%) HP:0002863
10 abnormal hemoglobin 56 32 hallmark (90%) Very frequent (99-80%) HP:0011902
11 abnormality of immune system physiology 56 32 occasional (7.5%) Occasional (29-5%) HP:0010978
12 anemia 56 Occasional (29-5%)
13 hypochromic microcytic anemia 32 HP:0004840
14 reduced alpha/beta synthesis ratio 32 HP:0011907

UMLS symptoms related to Thalassemias, Alpha-:


angina pectoris, chest pain, edema

GenomeRNAi Phenotypes related to Thalassemias, Alpha- according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-104 9.95 HBG1
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-14 9.95 SMARCA1 ATRX
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-148 9.95 SMARCA1 HBE1
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-15 9.95 SMARCA1
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-150 9.95 SMARCA1
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-153 9.95 HBG1
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-17 9.95 SMARCA1
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-179 9.95 SMARCA1
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-181 9.95 HBA1 HBA2
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-193 9.95 HBG1 SMARCA1 ATRX
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-204 9.95 HBE1
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-211 9.95 ATRX
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-213 9.95 SMARCA1 HBG1
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 9.95 ATRX
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-28 9.95 HBG1
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-38 9.95 ATRX
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-48 9.95 HBA2 HBA1
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-55 9.95 HBG1
19 Decreased shRNA abundance (Z-score < -2) GR00366-A-71 9.95 ATRX
20 Decreased shRNA abundance (Z-score < -2) GR00366-A-72 9.95 HBA1 HBG1 HBA2 HBE1
21 Decreased shRNA abundance (Z-score < -2) GR00366-A-77 9.95 HBG1
22 Decreased shRNA abundance (Z-score < -2) GR00366-A-84 9.95 HBG1
23 Decreased shRNA abundance (Z-score < -2) GR00366-A-89 9.95 ATRX

MGI Mouse Phenotypes related to Thalassemias, Alpha-:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.36 BCS1L DAXX G6PD HBZ HELLS NPRL3

Drugs & Therapeutics for Thalassemias, Alpha-

Drugs for Thalassemias, Alpha- (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 61)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Peginterferon alfa-2a Approved, Investigational Phase 4,Phase 2 198153-51-4 5360545
2
Peginterferon alfa-2b Approved Phase 4 99210-65-8, 215647-85-1
3
Ribavirin Approved Phase 4,Phase 2 36791-04-5 37542
4 Anti-Infective Agents Phase 4,Phase 2
5 Antimetabolites Phase 4,Phase 2
6 Antiviral Agents Phase 4,Phase 2
7 Interferon-alpha Phase 4,Phase 2
8 interferons Phase 4,Phase 2
9
Darbepoetin alfa Approved, Investigational Phase 2, Phase 3 11096-26-7, 209810-58-2
10 Hematinics Phase 2, Phase 3
11
Deferasirox Approved, Investigational Phase 2 201530-41-8 5493381
12
Iron Approved Phase 2 7439-89-6 23925
13
Histamine Approved, Investigational Phase 2 75614-87-8, 51-45-6 774
14
Hydroxyurea Approved Phase 2 127-07-1 3657
15
Butyric Acid Experimental Phase 2 107-92-6 264
16 Chelating Agents Phase 2
17 Iron Chelating Agents Phase 2
18 Liver Extracts Phase 2
19 Micronutrients Phase 2
20 Trace Elements Phase 2
21 Arginine butyrate Phase 2
22 Epoetin alfa Phase 2 113427-24-0
23 Histamine Antagonists Phase 2
24
Histamine Phosphate Phase 2 51-74-1 65513
25 Neurotransmitter Agents Phase 2
26 Nucleic Acid Synthesis Inhibitors Phase 2
27 arginine Nutraceutical Phase 2
28
Menthol Approved Phase 1 2216-51-5 16666
29
Copper Approved 7440-50-8 27099
30
Selenium Approved, Vet_approved 7782-49-2
31
Zinc Approved 7440-66-6 32051 23994
32
Acetylcysteine Approved, Investigational 616-91-1 12035
33
Deferiprone Approved 30652-11-0 2972
34
Folic Acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
35
leucovorin Approved, Nutraceutical 58-05-9 143 6006
36
Niacin Approved, Investigational, Nutraceutical 59-67-6 938
37
Nicotinamide Approved, Nutraceutical 98-92-0 936
38
Vitamin A Approved, Nutraceutical, Vet_approved 11103-57-4, 68-26-8 445354
39 Tocopherol Approved, Nutraceutical
40
Vitamin E Approved, Nutraceutical, Vet_approved 59-02-9 14985
41
Iodine Investigational 7553-56-2 807
42 cadexomer iodine
43 Hepcidins
44 Nicotinic Acids
45 Retinol palmitate
46 Vitamin B Complex
47 Vitamins
48 Vaccines
49 Antidotes
50 Antioxidants

Interventional clinical trials:

(show all 23)

id Name Status NCT ID Phase Drugs
1 Interferon and Ribavirin Treatment in Patients With Hemoglobinopathies Unknown status NCT00887081 Phase 4 PEG-IFN alpha2a or PEG-IFN alpha2b and Ribavirin
2 Pegasys® Plus Ribavirin in Thalassemic Patients With Hepatitis C Virus Infection Completed NCT00707850 Phase 4 PEGASYS® (Peginterferon Alfa-2a (40KD)) Plus COPEGUS® (Ribavirin)
3 EPO-4-Rhesus: Role of Darbepoetin Alfa in Reducing Late Anaemia in Neonates With Red Blood Cell Alloimmunization After Intrauterine Transfusions Not yet recruiting NCT03104426 Phase 2, Phase 3 Darbepoetin Alfa
4 Evaluating the Safety of Two Medications to Treat Hepatitis C in People With Thalassemia (The HepC Study) Completed NCT00502788 Phase 2 Peginterferon Alfa-2a and Ribavirin;Ribavirin
5 Efficacy and Safety of Deferasirox in Non-transfusion Dependent Thalassemia Patients With Iron Overload and a One Year Open-label Extension Study Completed NCT00873041 Phase 2 deferasirox;placebo
6 Phase II Study of Arginine Butyrate With or Without Epoetin Alfa in Patients With Thalassemia Intermedia Completed NCT00006136 Phase 2 arginine butyrate;epoetin alfa
7 Hydroxyurea to Treat Beta-Thalassemia (Cooley's Anemia) Completed NCT00001958 Phase 2 Hydroxyurea
8 Phase I/II Pilot Study of Mixed Chimerism to Treat Hemoglobinopathies Suspended NCT01419704 Phase 1, Phase 2
9 In Utero Hematopoietic Stem Cell Transplantation for Alpha-thalassemia Major (ATM) Recruiting NCT02986698 Phase 1
10 Amniotic Fluid Tandem Mass Spectrometry for Pregnancies Complicated by NIH and Severe Symmetrical IUGR Terminated NCT00143039 Phase 1
11 Long Term Outcomes in β Thalassemia Major Unknown status NCT02307786
12 Demographic, Clinical and Laboratory Characteristics of Children With Alpha Thalassemia in Northern Israel Completed NCT00971984
13 Genetics of Alpha Thalassemia in Israeli Ethnic Groups Completed NCT00159029
14 Evaluation of the Free α-hemoglobin Pool in the Red Blood Cells : Prognostic Marker and Severity Index in Thalassemic Syndromes Completed NCT02855957
15 Malaria Studies in Cambodia Completed NCT00663546
16 Is Iron Deficiency the Cause of Anemia Among Women in Cambodia? Completed NCT02481375
17 Evaluating People With Thalassemia: The Thalassemia Longitudinal Cohort (TLC) Study Completed NCT00661804
18 Preventing the Spread of Malaria in Mali Completed NCT01360112
19 Demographic, Clinical, Laboratory and Genetical Characteristics of Patients With Beta Thalassemia Intermedia Completed NCT01443312
20 Effect of Antioxidant Cocktail in Beta-thalassemia/Hb E Patients Completed NCT01597765 curcuminoids, N-acetylcysteine, deferiprone and vitamin E;Curcuminoids and alpha-tocopherol
21 Screening for Alpha Thalassemia in Healthy Volunteers Recruiting NCT02692872
22 Evaluation of Nutritional Status in Thalassemia Major Patients in Assiut Children Hospital Not yet recruiting NCT03161899
23 Precision Medical Research of Non-immune Fetal Hydrops (NIFH)-From Prenatal Diagnosis to Intrauterine Treatment Not yet recruiting NCT02956564

Search NIH Clinical Center for Thalassemias, Alpha-

Cochrane evidence based reviews: alpha-thalassemia

Genetic Tests for Thalassemias, Alpha-

Genetic tests related to Thalassemias, Alpha-:

id Genetic test Affiliating Genes
1 Alpha Thalassemia 29
2 Alpha-Thalassemia 24 HBZ HBA1 HBA2

Anatomical Context for Thalassemias, Alpha-

MalaCards organs/tissues related to Thalassemias, Alpha-:

39
Bone, Heart, Skin, Liver

Publications for Thalassemias, Alpha-

Articles related to Thalassemias, Alpha-:

id Title Authors Year
1
Coexistence of Hb Lepore-Boston-Washington (delta 87Gln-beta-IVS-II-8) with alpha-thalassemia [alpha(-5NT)alpha/alpha alpha]. ( 9629502 )
1998

Variations for Thalassemias, Alpha-

ClinVar genetic disease variations for Thalassemias, Alpha-:

6 (show all 23)
id Gene Variation Type Significance SNP ID Assembly Location
1 HBA2 NM_000517.4(HBA2): c.427T> C (p.Ter143Gln) single nucleotide variant Pathogenic rs41464951 GRCh37 Chromosome 16, 223597: 223597
2 HBA2 NM_000517.4(HBA2): c.377T> C (p.Leu126Pro) single nucleotide variant Pathogenic rs41397847 GRCh37 Chromosome 16, 223547: 223547
3 HBA2 NM_000517.4(HBA2): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs111033603 GRCh37 Chromosome 16, 222913: 222913
4 HBA2 NM_000517.4(HBA2): c.349G> T (p.Glu117Ter) single nucleotide variant Pathogenic rs33987053 GRCh37 Chromosome 16, 223519: 223519
5 HBA2 NM_000517.4(HBA2): c.96-2A> G single nucleotide variant Pathogenic rs41457746 GRCh37 Chromosome 16, 223122: 223122
6 HBA2 NM_000517.4(HBA2): c.70G> T (p.Glu24Ter) single nucleotide variant Pathogenic rs281864819 GRCh37 Chromosome 16, 222981: 222981
7 HBA2 NM_000517.4(HBA2): c.69C> T (p.Gly23=) single nucleotide variant Pathogenic rs63751457 GRCh37 Chromosome 16, 222980: 222980
8 HBA2 NM_000517.4(HBA2): c.178G> C (p.Gly60Arg) single nucleotide variant Pathogenic rs41328049 GRCh37 Chromosome 16, 223206: 223206
9 HBA1 NM_000558.4(HBA1): c.43T> Y single nucleotide variant Pathogenic rs33964317 GRCh37 Chromosome 16, 226758: 226758
10 HBA1 NM_000558.4(HBA1): c.223G> C (p.Asp75His) single nucleotide variant Pathogenic rs28928875 GRCh37 Chromosome 16, 227055: 227055
11 HBA1 HBA1, 21-BP INS-DUP duplication Pathogenic
12 HBA1 HBA1, 33-BP DEL deletion Pathogenic
13 HBA1 HBA1, 1-BP DEL, 354C deletion Pathogenic
14 HBA2 NM_005332.2(HBZ): c.330_*22601del deletion Pathogenic GRCh37 Chromosome 16, 204300: 227000
15 HBA2 NG_000006.1: g.34164_37967del3804 deletion Pathogenic GRCh37 Chromosome 16, 223300: 227103
16 HBA2 NM_000517.4(HBA2): c.94_95delAG (p.Arg32AspfsTer24) deletion Pathogenic rs1057519637 GRCh37 Chromosome 16, 223005: 223006
17 HBA2 NM_000517.4(HBA2): c.95+2_95+6delTGAGG deletion Pathogenic rs41474145 GRCh38 Chromosome 16, 173009: 173013
18 HBA2 NM_000517.4(HBA2): c.207C> G (p.Asn69Lys) single nucleotide variant Pathogenic rs111033601 GRCh38 Chromosome 16, 173236: 173236
19 HBA2 NM_000517.4(HBA2): c.*94A> G single nucleotide variant Pathogenic rs63751269 GRCh37 Chromosome 16, 223693: 223693
20 HBA1 NM_000558.4(HBA1): c.207C> A (p.Asn69Lys) single nucleotide variant Pathogenic rs1060339 GRCh37 Chromosome 16, 227039: 227039
21 HBA2 deletion Pathogenic
22 HBA2 NG_000006.1: g.32867_38062del5196 deletion Pathogenic
23 HBA1; HBA2 NC_000016.10: g.(172007_173726)_(175811_177537)del deletion Pathogenic GRCh38 Chromosome 16, 172007: 177537

Expression for Thalassemias, Alpha-

Search GEO for disease gene expression data for Thalassemias, Alpha-.

Pathways for Thalassemias, Alpha-

GO Terms for Thalassemias, Alpha-

Cellular components related to Thalassemias, Alpha- according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 blood microparticle GO:0072562 9.65 HBA1 HBA2 HBB HBD HBE1
2 SWI/SNF complex GO:0016514 9.46 SMARCA2 SMARCA4
3 nBAF complex GO:0071565 9.43 SMARCA2 SMARCA4
4 pericentric heterochromatin GO:0005721 9.4 ATRX HELLS
5 npBAF complex GO:0071564 9.37 SMARCA2 SMARCA4
6 endocytic vesicle lumen GO:0071682 9.33 HBA1 HBA2 HBB
7 SWI/SNF superfamily-type complex GO:0070603 9.32 ATRX DAXX
8 hemoglobin complex GO:0005833 9.23 HBA1 HBA2 HBB HBD HBE1 HBG1
9 haptoglobin-hemoglobin complex GO:0031838 9.13 HBA1 HBA2 HBB

Biological processes related to Thalassemias, Alpha- according to GeneCards Suite gene sharing:

(show all 14)
id Name GO ID Score Top Affiliating Genes
1 covalent chromatin modification GO:0016569 9.81 ATRX DAXX SMARCA1 SMARCA4
2 blood coagulation GO:0007596 9.76 HBB HBD HBE1 HBG1
3 cellular oxidant detoxification GO:0098869 9.65 HBA1 HBA2 HBB
4 response to hydrogen peroxide GO:0042542 9.61 HBA1 HBA2 HBB
5 positive regulation of cell death GO:0010942 9.58 HBA1 HBA2 HBB
6 ATP-dependent chromatin remodeling GO:0043044 9.54 SMARCA1 SMARCA4
7 DNA methylation GO:0006306 9.52 ATRX HELLS
8 bicarbonate transport GO:0015701 9.5 HBA1 HBA2 HBB
9 erythrocyte maturation GO:0043249 9.49 G6PD HBZ
10 protein heterooligomerization GO:0051291 9.46 HBA1 HBA2 HBB HBE1
11 hydrogen peroxide catabolic process GO:0042744 9.43 HBA1 HBA2 HBB
12 chromatin remodeling GO:0006338 9.35 ATRX DAXX SMARCA1 SMARCA2 SMARCA4
13 oxygen transport GO:0015671 9.23 HBA1 HBA2 HBB HBD HBE1 HBG1
14 transport GO:0006810 10.02 HBA1 HBA2 HBB HBD HBE1 HBG1

Molecular functions related to Thalassemias, Alpha- according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 iron ion binding GO:0005506 9.86 HBA1 HBA2 HBB HBD HBE1 HBG1
2 helicase activity GO:0004386 9.77 ATRX HELLS SMARCA1 SMARCA2 SMARCA4
3 heme binding GO:0020037 9.76 HBA1 HBA2 HBB HBD HBE1 HBG1
4 histone binding GO:0042393 9.73 ATRX DAXX SMARCA2 SMARCA4
5 DNA-dependent ATPase activity GO:0008094 9.63 SMARCA1 SMARCA2 SMARCA4
6 peroxidase activity GO:0004601 9.58 HBA1 HBA2 HBB
7 oxygen binding GO:0019825 9.56 HBA1 HBA2 HBB HBD HBE1 HBG1
8 haptoglobin binding GO:0031720 9.5 HBA1 HBA2 HBB
9 hydrolase activity, acting on acid anhydrides GO:0016817 9.48 SMARCA2 SMARCA4
10 oxygen transporter activity GO:0005344 9.23 HBA1 HBA2 HBB HBD HBE1 HBG1

Sources for Thalassemias, Alpha-

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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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