A-THAL
MCID: THL016
MIFTS: 53

Thalassemias, Alpha- (A-THAL) malady

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

Aliases & Classifications for Thalassemias, Alpha-

Aliases & Descriptions for Thalassemias, Alpha-:

Name: Thalassemias, Alpha- 54
Alpha-Thalassemia 54 12 23 50 24 25 56 66 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 66

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
ICD10 via Orphanet 34 D56.0
UMLS via Orphanet 70 C0002312 C1456873
MedGen 40 C0002312
UMLS 69 C0002312

Summaries for Thalassemias, Alpha-

UniProtKB/Swiss-Prot : 66 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 alpha thalassemia-x-linked intellectual disability syndrome and thalassemia, and has symptoms including splenomegaly, cognitive impairment and hemolytic anemia. An important gene associated with Thalassemias, Alpha- is HBA2 (Hemoglobin Subunit Alpha 2), and among its related pathways/superpathways are Glucose / Energy Metabolism and Chromatin Regulation / Acetylation. The drugs Peginterferon alfa-2a and Peginterferon alfa-2b have been mentioned in the context of this disorder. Affiliated tissues include heart, bone and skin, and related phenotype is Decreased shRNA abundance (Z-score < -2).

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

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.

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

Wikipedia : 71 Alpha-thalassemia (α-thalassemia, α-thalassaemia) is a form of thalassemia involving the genes HBA1... 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 all 46)
id Related Disease Score Top Affiliating Genes
1 alpha thalassemia-x-linked intellectual disability syndrome 12.6
2 thalassemia 11.2
3 thalassemia, hispanic gamma-delta-beta 10.7
4 hypersensitivity pneumonitis, familial 10.3 HBA1 HBA2
5 ichthyosis, congenital, autosomal recessive 8 10.3 HBA1 HBA2
6 hydrocephalus due to congenital stenosis of aqueduct of sylvius 10.3 HBA1 HBA2
7 sepsis in premature infants 10.3 HBB HBG1
8 chronic laryngitis 10.3 HBA1 HBB
9 michelin tire baby syndrome 10.3 HBA1 HBA2 HBB
10 surfactant metabolism dysfunction, pulmonary, 3 10.3 HBA1 HBA2 HBB
11 isolated atp synthase deficiency 10.3 HBB HBG1
12 alzheimer's disease 11 10.3 ATRX HBA1 HBA2
13 adult-onset multiple mitochondrial dna deletion syndrome due to dguok deficiency 10.3 HBB HBD
14 cardiomyopathy, dilated, 1w 10.3 G6PD HBA2 HBB
15 paroxysmal nonkinesigenic dyskinesia 2 10.3 HBA1 HBA2
16 tmem237-related joubert syndrome 10.3 HBA2 HBB UGT1A1
17 oxyphilic adenoma 10.3 HBA1 HBB HBE1
18 mental retardation-hypotonic facies syndrome, x-linked 10.3 ATRX HBA2 HELLS
19 pleuropulmonary blastoma 10.2 HBA1 HBA2
20 costello syndrome 10.2 HBB HBD HBG1
21 endometriosis of uterus 10.2 G6PD HBB UGT1A1
22 lmna-related cardiocutaneous progeria syndrome 10.2 HBA1 HBA2
23 hemoglobin h disease, nondeletional 10.2
24 cone dystrophy 4 10.2 SMARCA2 SMARCA4
25 brachydactyly type a1d 10.2 HBB HBE1 NPRL3
26 kluver-bucy syndrome 10.2 SMARCA2 SMARCA4
27 alzheimer's disease 13 10.2 ATRX SMARCA2 SMARCA4
28 hepatic infarction 10.2 HBB HBD
29 neuronal ceroid-lipofuscinoses 10.2 AHSP G6PD HBA1 HBB
30 3p- syndrome 10.2 HELLS SMARCA2 SMARCA4
31 qazi markouizos syndrome 10.2 BCS1L HBB HBE1
32 middle ear adenoma 10.1 HBB HBD HBQ1
33 arrhythmogenic right ventricular dysplasia 3 10.1 HBA1 LRBA
34 t-cell large granular lymphocyte leukemia 10.1 ATRX HBA1 HBB HBD HBE1
35 endometrial adenocarcinoma 10.0 HBA1 HBB HBD HBE1 SCN2A
36 fetal hemoglobin quantitative trait locus 1 10.0 G6PD HBA1 HBA2 HBB HBG1 UGT1A1
37 larynx sarcoma 10.0 HBA1 HBA2 HBB HBD HBG1 UGT1A1
38 basal cell carcinoma 10.0 SMARCA2 SMARCA4
39 tk2-related mitochondrial dna depletion syndrome, myopathic form 10.0 G6PD HBA2 HBB HBD HBG1 UGT1A1
40 meningeal melanocytoma 10.0 G6PD HBA2 HBB HBD HBE1 HBG1
41 vagus nerve neoplasm 9.9 G6PD HBB HBE1 HBG1 NPRL3 UGT1A1
42 thalassemia-beta, dominant inclusion-body 9.7 AHSP HBA1 HBA2 HBB HBD HBE1
43 tracheal cancer 9.6 AHSP ATRX G6PD HBA1 HBA2 HBB
44 gaba-transaminase deficiency 9.6 ATRX BCS1L HBA1 HBA2 HBB HBD
45 alpha-thalassemia/mental retardation syndrome 9.5
46 heinz body anemia 8.4 AHSP ATRX BCS1L DAXX G6PD HBA1

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 splenomegaly 56 32 Occasional (29-5%) HP:0001744
2 cognitive impairment 56 32 Occasional (29-5%) HP:0100543
3 hemolytic anemia 56 32 Occasional (29-5%) HP:0001878
4 myelodysplasia 56 32 Occasional (29-5%) HP:0002863
5 hydrops fetalis 56 32 Occasional (29-5%) HP:0001789
6 cholelithiasis 56 32 Occasional (29-5%) HP:0001081
7 microcytic anemia 56 32 Very frequent (99-80%) HP:0001935
8 abnormal hemoglobin 56 32 Very frequent (99-80%) HP:0011902
9 jaundice 56 32 Occasional (29-5%) HP:0000952
10 hypersplenism 56 32 Occasional (29-5%) HP:0001971
11 abnormality of immune system physiology 56 32 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 9.58 HBG1
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-148 9.58 HBE1
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-153 9.58 HBG1
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-181 9.58 HBA1 HBA2
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-193 9.58 HBG1
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-204 9.58 HBE1
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-213 9.58 HBG1
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-28 9.58 HBG1
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-48 9.58 HBA1 HBA2
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-55 9.58 HBG1
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-72 9.58 HBA1 HBA2 HBE1 HBG1
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-77 9.58 HBG1
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-84 9.58 HBG1

Drugs & Therapeutics for Thalassemias, Alpha-

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

(show top 50) (show all 107)
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
Hydroxyurea Approved Phase 2, Phase 3 127-07-1 3657
10
Darbepoetin alfa Approved, Investigational Phase 2, Phase 3 11096-26-7, 209810-58-2
11 Epoetin alfa Phase 2, Phase 3 113427-24-0
12 Hematinics Phase 2, Phase 3
13 Nucleic Acid Synthesis Inhibitors Phase 2, Phase 3
14
Deferasirox Approved, Investigational Phase 2 201530-41-8 5493381
15
Iron Approved Phase 2 7439-89-6 23925
16
Histamine Approved, Investigational Phase 2 75614-87-8, 51-45-6 774
17
Acetaminophen Approved Phase 2 103-90-2 1983
18
alemtuzumab Approved, Investigational Phase 2 216503-57-0
19
Diphenhydramine Approved Phase 2 58-73-1, 147-24-0 3100
20
Epinephrine Approved, Vet_approved Phase 2 51-43-4 5816
21
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
22
Melphalan Approved Phase 2 148-82-3 4053 460612
23
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
24
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
25
Promethazine Approved Phase 2 60-87-7 4927
26
Thiotepa Approved Phase 2 52-24-4 5453
27
Vidarabine Approved Phase 2 24356-66-9 32326 21704
28
Busulfan Approved, Investigational Phase 2 55-98-1 2478
29
Cyclosporine Approved, Investigational, Vet_approved Phase 2 79217-60-0, 59865-13-3 5284373 6435893
30
Methotrexate Approved Phase 2 1959-05-2, 59-05-2 126941
31
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
32
Mycophenolate mofetil Approved, Investigational Phase 2 128794-94-5 5281078
33
Mycophenolic acid Approved Phase 2 24280-93-1 446541
34
Tacrolimus Approved, Investigational Phase 2 104987-11-3 445643 439492
35
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
36
leucovorin Approved, Nutraceutical Phase 2 58-05-9 54575, 6560146 143
37
Butyric Acid Experimental Phase 2 107-92-6 264
38 Chelating Agents Phase 2
39 Iron Chelating Agents Phase 2
40 Liver Extracts Phase 2
41 Micronutrients Phase 2
42 Trace Elements Phase 2
43 Arginine butyrate Phase 2
44 Histamine Antagonists Phase 2
45
Histamine Phosphate Phase 2 51-74-1 65513
46 Neurotransmitter Agents Phase 2
47 Vitamin B Complex Phase 2
48 Alkylating Agents Phase 2
49 Anti-Bacterial Agents Phase 2
50 Antibiotics, Antitubercular Phase 2

Interventional clinical trials:

(show all 28)
id Name Status NCT ID Phase
1 Interferon and Ribavirin Treatment in Patients With Hemoglobinopathies Unknown status NCT00887081 Phase 4
2 Pegasys® Plus Ribavirin in Thalassemic Patients With Hepatitis C Virus Infection Completed NCT00707850 Phase 4
3 Therapeutic Effect and Safety of Combined Hydroxyurea With Recombinant Human Erythropoietin. Unknown status NCT01624038 Phase 2, Phase 3
4 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
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
6 Evaluating the Safety of Two Medications to Treat Hepatitis C in People With Thalassemia (The HepC Study) Completed NCT00502788 Phase 2
7 Phase II Study of Arginine Butyrate With or Without Epoetin Alfa in Patients With Thalassemia Intermedia Completed NCT00006136 Phase 2
8 Hydroxyurea to Treat Beta-Thalassemia (Cooley's Anemia) Completed NCT00001958 Phase 2
9 Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT Recruiting NCT01962415 Phase 2
10 Treosulfan and Fludarabine Phosphate Before Donor Stem Cell Transplant in Treating Patients With Nonmalignant Inherited Disorders Recruiting NCT00919503 Phase 2
11 Phase I/II Pilot Study of Mixed Chimerism to Treat Hemoglobinopathies Suspended NCT01419704 Phase 1, Phase 2
12 In Utero Hematopoietic Stem Cell Transplantation for Alpha-thalassemia Major (ATM) Not yet recruiting NCT02986698 Phase 1
13 Amniotic Fluid Tandem Mass Spectrometry for Pregnancies Complicated by NIH and Severe Symmetrical IUGR Terminated NCT00143039 Phase 1
14 Genetics of Alpha Thalassemia in Israeli Ethnic Groups Unknown status NCT00159029
15 Long Term Outcomes in β Thalassemia Major Unknown status NCT02307786
16 Demographic, Clinical and Laboratory Characteristics of Children With Alpha Thalassemia in Northern Israel Completed NCT00971984
17 Evaluation of the Free α-hemoglobin Pool in the Red Blood Cells : Prognostic Marker and Severity Index in Thalassemic Syndromes Completed NCT02855957
18 Malaria Studies in Cambodia Completed NCT00663546
19 Is Iron Deficiency the Cause of Anemia Among Women in Cambodia? Completed NCT02481375
20 Evaluating People With Thalassemia: The Thalassemia Longitudinal Cohort (TLC) Study Completed NCT00661804
21 Preventing the Spread of Malaria in Mali Completed NCT01360112
22 Demographic, Clinical, Laboratory and Genetical Characteristics of Patients With Beta Thalassemia Intermedia Completed NCT01443312
23 Effect of Antioxidant Cocktail in Beta-thalassemia/Hb E Patients Completed NCT01597765
24 Long Term Effects of Erythrocyte Lysis Completed NCT00842621
25 Screening for Alpha Thalassemia in Healthy Volunteers Recruiting NCT02692872
26 Hematopoietic Stem Cell Transplant for High Risk Hemoglobinopathies Recruiting NCT02179359
27 Evaluation of Nutritional Status in Thalassemia Major Patients in Assiut Children Hospital Not yet recruiting NCT03161899
28 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
Heart, Bone, Skin

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 22)
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

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 9.28 AHSP HBA1 HBA2 HBB HBD HBE1
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 12)
id Name GO ID Score Top Affiliating Genes
1 blood coagulation GO:0007596 9.76 HBB HBD HBE1 HBG1
2 cellular oxidant detoxification GO:0098869 9.65 HBA1 HBA2 HBB
3 response to hydrogen peroxide GO:0042542 9.61 HBA1 HBA2 HBB
4 chromatin remodeling GO:0006338 9.56 ATRX DAXX SMARCA2 SMARCA4
5 bicarbonate transport GO:0015701 9.54 HBA1 HBA2 HBB
6 DNA methylation GO:0006306 9.51 ATRX HELLS
7 positive regulation of cell death GO:0010942 9.5 HBA1 HBA2 HBB
8 erythrocyte maturation GO:0043249 9.49 G6PD HBZ
9 hydrogen peroxide catabolic process GO:0042744 9.33 HBA1 HBA2 HBB
10 protein heterooligomerization GO:0051291 9.26 HBA1 HBA2 HBB HBE1
11 oxygen transport GO:0015671 9.23 HBA1 HBA2 HBB HBD HBE1 HBG1
12 transport GO:0006810 10.06 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 9.76 ATRX HELLS SMARCA2 SMARCA4
3 heme binding GO:0020037 9.76 HBA1 HBA2 HBB HBD HBE1 HBG1
4 histone binding GO:0042393 9.71 ATRX DAXX SMARCA2 SMARCA4
5 oxygen binding GO:0019825 9.56 HBA1 HBA2 HBB HBD HBE1 HBG1
6 peroxidase activity GO:0004601 9.54 HBA1 HBA2 HBB
7 haptoglobin binding GO:0031720 9.5 HBA1 HBA2 HBB
8 hydrolase activity, acting on acid anhydrides GO:0016817 9.48 SMARCA2 SMARCA4
9 hemoglobin binding GO:0030492 9.43 AHSP HBB
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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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