A-THAL
MCID: ALP101
MIFTS: 61

Alpha-Thalassemia (A-THAL)

Categories: Blood diseases, Endocrine diseases, Fetal diseases, Genetic diseases, Immune diseases, Liver diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Alpha-Thalassemia

MalaCards integrated aliases for Alpha-Thalassemia:

Name: Alpha-Thalassemia 58 12 77 25 54 26 60 76 56 45 74
Alpha Thalassemia 12 54 26 30 6 15
Thalassemia, Alpha- 58 13
Alpha Plus Thalassemia 6
Thalassemias, Alpha- 58
Alpha^+^ Thalassemia 74
Alpha Thalassaemia 12
Thalassemia, Alpha 41
a-Thalassemia 54
Thalassemia 74
a-Thal 76

Characteristics:

Orphanet epidemiological data:

60
alpha-thalassemia
Inheritance: Autosomal recessive; Age of onset: All ages; Age of death: normal life expectancy;

Classifications:



External Ids:

Disease Ontology 12 DOID:1099
OMIM 58 604131
ICD9CM 36 282.43
MeSH 45 D017085
NCIt 51 C34368
SNOMED-CT 69 68913001
ICD10 34 D56.0
MESH via Orphanet 46 D017085
ICD10 via Orphanet 35 D56.0
UMLS via Orphanet 75 C0002312 C1456873
Orphanet 60 ORPHA846
MedGen 43 C0002312

Summaries for Alpha-Thalassemia

UniProtKB/Swiss-Prot : 76 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 : Alpha-Thalassemia, also known as alpha thalassemia, is related to alpha-thalassemia/mental retardation syndrome, chromosome 16-related and alpha-thalassemia/mental retardation syndrome, x-linked, and has symptoms including angina pectoris, edema and chest pain. An important gene associated with Alpha-Thalassemia is HBA2 (Hemoglobin Subunit Alpha 2), and among its related pathways/superpathways are Glucose / Energy Metabolism and Malaria. The drugs Darbepoetin alfa and Hematinics have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and heart, and related phenotypes are microcytic anemia and abnormal hemoglobin

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

Genetics Home Reference : 26 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 : 54 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.

Wikipedia : 77 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 Alpha-Thalassemia

Diseases in the Thalassemia family:

Alpha-Thalassemia Beta-Thalassemia

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

(show top 50) (show all 118)
# Related Disease Score Top Affiliating Genes
1 alpha-thalassemia/mental retardation syndrome, chromosome 16-related 34.8 HBA1 HBA2
2 alpha-thalassemia/mental retardation syndrome, x-linked 34.6 ATRX DAXX HELLS
3 alpha thalassemia-intellectual disability syndrome type 1 34.3 ATRX HBA1 HBA2 HBB SOX8
4 hemoglobin h disease 33.2 ATRX EPO G6PD HBA1 HBA2 HBB
5 hydrops fetalis, nonimmune 32.9 HBA1 HBA2
6 thalassemia 31.9 ATRX EPO HBA1 HBA2 HBB HBG1
7 hydrops fetalis 31.3 HBA1 HBA2
8 sickle cell disease 30.6 EPO G6PD HBA2 HBB HBG1 HBG2
9 sickle cell anemia 30.4 EPO G6PD HBA1 HBA2 HBB HBG1
10 hypochromic microcytic anemia 30.2 HBA2 HBB
11 microcytic anemia 30.2 EPO HBA1 HBA2 TFRC
12 malaria 30.1 EPO G6PD HBA1 HBA2 HBB HP
13 glucosephosphate dehydrogenase deficiency 30.1 G6PD HBB HBG2 HP UGT1A1
14 plasmodium falciparum malaria 30.1 G6PD HBB HP
15 beta-thalassemia 29.7 EPO G6PD HBA1 HBA2 HBB HBG1
16 hereditary spherocytosis 29.7 G6PD HBB HBG1 KLF1 TFRC UGT1A1
17 hemoglobinopathy 29.6 EPO HBA1 HBA2 HBB HBG1 HP
18 deficiency anemia 29.6 EPO G6PD HBA2 HBB HBG2 HP
19 hemolytic anemia 29.4 EPO G6PD HBA1 HBA2 HBB HBG2
20 alpha thalassemia-x-linked intellectual disability syndrome 12.9
21 alpha-thalassemia myelodysplasia syndrome 12.8
22 alpha-thalassemia-abnormal morphogenesis 12.4
23 mental retardation-hypotonic facies syndrome, x-linked, 1 11.8
24 diabetes mellitus, insulin-dependent, 24 10.5 HBA1 HBA2
25 hemoglobin zurich 10.5 HBA2 HBB
26 lymphatic malformation 7 10.4
27 fetal edema 10.4
28 hypoglycemic coma 10.4 HBA1 HBA2
29 erythrocytosis, familial, 7 10.4 HBA1 HBA2
30 type 1 diabetes mellitus 7 10.4 HBA1 HBA2
31 hemoglobinemia 10.4 HBB HP
32 type 1 diabetes mellitus 11 10.4 HBA1 HBA2
33 acquired methemoglobinemia 10.4 G6PD HBG2
34 methemoglobinemia, beta-globin type 10.4 HBA1 HBA2 HBB
35 glutathione peroxidase deficiency 10.4 HBA1 HBA2 HBB
36 heinz body anemias 10.4 HBA1 HBA2 HBB
37 congenital methemoglobinemia 10.4 G6PD HBG2
38 immature cataract 10.4 HBA1 HBA2
39 fetal hemoglobin quantitative trait locus 1 10.3 HBB HBG1 HBG2
40 autosomal genetic disease 10.3 ATRX HBB HBG1
41 blood protein disease 10.3 HBB HBG1 HBG2
42 blood group incompatibility 10.3 G6PD KLF1
43 blackwater fever 10.2 G6PD HP
44 myelodysplastic syndrome 10.2
45 gastric neuroendocrine neoplasm 10.2 ATRX DAXX
46 folic acid deficiency anemia 10.2 EPO TFRC
47 spherocytosis, type 3 10.2 HBB KLF1
48 iron overload in africa 10.2 HBB HP TFRC
49 bilirubin metabolic disorder 10.2 G6PD HP UGT1A1
50 fetal erythroblastosis 10.2 EPO HBZ TFRC

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



Diseases related to Alpha-Thalassemia

Symptoms & Phenotypes for Alpha-Thalassemia

Human phenotypes related to Alpha-Thalassemia:

60 33 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 microcytic anemia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001935
2 abnormal hemoglobin 60 33 hallmark (90%) Very frequent (99-80%) HP:0011902
3 splenomegaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0001744
4 cognitive impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0100543
5 hemolytic anemia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001878
6 myelodysplasia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002863
7 hydrops fetalis 60 33 occasional (7.5%) Occasional (29-5%) HP:0001789
8 cholelithiasis 60 33 occasional (7.5%) Occasional (29-5%) HP:0001081
9 jaundice 60 33 occasional (7.5%) Occasional (29-5%) HP:0000952
10 hypersplenism 60 33 occasional (7.5%) Occasional (29-5%) HP:0001971
11 abnormality of immune system physiology 60 33 occasional (7.5%) Occasional (29-5%) HP:0010978
12 anemia 60 Occasional (29-5%)
13 hypochromic microcytic anemia 33 HP:0004840
14 reduced alpha/beta synthesis ratio 33 HP:0011907

Clinical features from OMIM:

604131

UMLS symptoms related to Alpha-Thalassemia:


angina pectoris, edema, chest pain

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

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance GR00327-A 8.92 DAXX EPO G6PD HBG2

MGI Mouse Phenotypes related to Alpha-Thalassemia:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.56 ATRX DAXX EPO G6PD HELLS KLF1
2 mortality/aging MP:0010768 9.4 ATRX DAXX EPO G6PD GDF15 HBA2

Drugs & Therapeutics for Alpha-Thalassemia

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

(show all 36)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Darbepoetin alfa Approved, Investigational Phase 2, Phase 3 11096-26-7, 209810-58-2
2 Hematinics Phase 2, Phase 3
3
Iron Approved, Experimental Phase 2,Not Applicable 7439-89-6, 15438-31-0 23925 27284
4
Deferasirox Approved, Investigational Phase 2 201530-41-8 5493381
5 Iron Chelating Agents Phase 2
6 Nutrients Phase 2,Not Applicable
7 Chelating Agents Phase 2
8 Trace Elements Phase 2,Not Applicable
9 Micronutrients Phase 2,Not Applicable
10 Liver Extracts Phase 2
11
leucovorin Approved Not Applicable 58-05-9 6006 143
12
Zinc Approved, Investigational Not Applicable 7440-66-6 32051
13
Hydroxocobalamin Approved Not Applicable 13422-51-0 11953898 15589840
14
Selenium Approved, Investigational, Vet_approved Not Applicable 7782-49-2
15
Copper Approved, Investigational Not Applicable 7440-50-8 27099
16
Iodine Approved, Investigational Not Applicable 7553-56-2 807
17
Nicotinamide Approved, Investigational Not Applicable 98-92-0 936
18
Folic Acid Approved, Nutraceutical, Vet_approved Not Applicable 59-30-3 6037
19
Cyanocobalamin Approved, Nutraceutical Not Applicable 68-19-9 44176380
20
Niacin Approved, Investigational, Nutraceutical Not Applicable 59-67-6 938
21
Vitamin A Approved, Nutraceutical, Vet_approved Not Applicable 22737-96-8, 68-26-8, 11103-57-4 9904001 445354
22
Cobalamin Experimental Not Applicable 13408-78-1 6857388
23 Vitamin B3 Not Applicable
24 Vitamin B12 Not Applicable
25 Folate Not Applicable
26 Vitamin B9 Not Applicable
27 Nicotinic Acids Not Applicable
28 Vitamins Not Applicable
29 cadexomer iodine Not Applicable
30 Vitamin B Complex Not Applicable
31 Hepcidins Not Applicable
32 retinol Not Applicable
33 Retinol palmitate Not Applicable
34 Vitamin B 12 Not Applicable
35 Vaccines
36 Anti-Arrhythmia Agents

Interventional clinical trials:

(show all 20)
# Name Status NCT ID Phase Drugs
1 Colla Corii Asini Treating Anemia in Pregnant Women With Thalassemia(Presenting the Syndrome of Blood Deficiency) Recruiting NCT03374111 Phase 4 Colla corii asini;a Simulate Agent of Colla corii asini granule
2 EPO-4-Rhesus Study Recruiting NCT03104426 Phase 2, Phase 3 Darbepoetin Alfa
3 Phase I/II Pilot Study of Mixed Chimerism to Treat Hemoglobinopathies Suspended NCT01419704 Phase 1, Phase 2
4 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
5 In Utero Hematopoietic Stem Cell Transplantation for Alpha-thalassemia Major (ATM) Recruiting NCT02986698 Phase 1
6 Precision Medical Research of Non-immune Fetal Hydrops (NIFH)-From Prenatal Diagnosis to Intrauterine Treatment Unknown status NCT02956564 Not Applicable
7 Demographic, Clinical and Laboratory Characteristics of Children With Alpha Thalassemia in Northern Israel Completed NCT00971984
8 Screening for Alpha Thalassemia in Healthy Volunteers Recruiting NCT02692872
9 Genetics of Alpha Thalassemia in Israeli Ethnic Groups Completed NCT00159029
10 Evaluation of the Free α-hemoglobin Pool in the Red Blood Cells : Prognostic Marker and Severity Index in Thalassemic Syndromes Completed NCT02855957 Not Applicable
11 Evaluation of Nutritional Status in Thalassemia Major Patients in Assiut Children Hospital Not yet recruiting NCT03161899
12 Malaria Studies in Cambodia Completed NCT00663546
13 Is Iron Deficiency the Cause of Anemia Among Women in Cambodia? Completed NCT02481375 Not Applicable
14 A Retrospective Study on the Effect of HBA or HBB Genetic Defects on Early Embryonic Development Recruiting NCT03687567
15 Evaluating People With Thalassemia: The Thalassemia Longitudinal Cohort (TLC) Study Completed NCT00661804
16 Preventing the Spread of Malaria in Mali Completed NCT01360112
17 Fetal Birth Defects: Toward a Precision-based Approach Recruiting NCT03412760 Not Applicable
18 Fetal Electrophysiologic Abnormalities in High-Risk Pregnancies Associated With Fetal Demise Recruiting NCT03775954
19 Prospective Observational Cohort Study of Fetal Atrial Flutter & Supraventricular Tachycardia Recruiting NCT03376438
20 Amniotic Fluid Tandem Mass Spectrometry for Pregnancies Complicated by NIH and Severe Symmetrical IUGR Terminated NCT00143039

Search NIH Clinical Center for Alpha-Thalassemia

Cochrane evidence based reviews: alpha-thalassemia

Genetic Tests for Alpha-Thalassemia

Genetic tests related to Alpha-Thalassemia:

# Genetic test Affiliating Genes
1 Alpha Thalassemia 30 HBA1 HBA2 HBB

Anatomical Context for Alpha-Thalassemia

MalaCards organs/tissues related to Alpha-Thalassemia:

42
Skin, Bone, Heart, Testes, Liver, Kidney, Skeletal Muscle

Publications for Alpha-Thalassemia

Articles related to Alpha-Thalassemia:

(show top 50) (show all 820)
# Title Authors Year
1
Borderline hemoglobin A2 levels in northern Thai population: HBB genotypes and effects of coinherited alpha-thalassemia. ( 30309760 )
2019
2
Novel nonsense mutation in the α1-globin gene [HBA1:C.49A>T] is responsible for non-deletion α-thalassemia. ( 30595158 )
2019
3
Co-inheritance of alpha thalassemia dramatically decreases the risk of acute splenic sequestration in a large cohort of newborns with hemoglobin SC. ( 30630972 )
2019
4
The best cutoff value of middle cerebral artery peak systolic velocity for the diagnosis of fetal homozygous alpha thalassemia-1 disease. ( 30650188 )
2019
5
Severe hemolytic anemia due to combined α thalassemia and de novo Hemoglobin Sabine. ( 30673812 )
2019
6
First Report of Association Between Rare α-Thalassemia Mutation (HBA1: c.298A>T) and Hb Fontainebleau (HBA2: c.64G>C). ( 30728682 )
2019
7
A diagnosis of discernment: Identifying a novel ATRX mutation in myelodysplastic syndrome with acquired α-thalassemia. ( 30803555 )
2019
8
First Report on the Coinheritance of α-Thalassemia and a Rare β-Thalassemia Compound Heterozygosity for the IVS-I-I(G>A)/IVS-II-705(T>G) Mutations in a Syrian Family. ( 30843739 )
2019
9
Hb Adana (HBA2 or HBA1: c.179GA >A A) and alpha thalassemia: Genotype-phenotype correlation. ( 29749692 )
2018
10
The incidental detection of alpha thalassemia. ( 29576180 )
2018
11
An Observational Study of the Effect of Hemoglobinopathy, Alpha Thalassemia and Hemoglobin E on <i>P. Vivax</i> Parasitemia. ( 29531652 )
2018
12
Genetics of Iranian Alpha-Thalassemia Patients: A Comprehensive Original Study. ( 29627922 )
2018
13
A modified sandwich ELISA for accurate measurement of HbF in α-thalassemia carriers containing Hb Bart's and Hb Portland 1. ( 29985765 )
2018
14
Epitope mapping of an anti-alpha thalassemia/mental retardation syndrome X-linked monoclonal antibody AMab-6. ( 30073207 )
2018
15
Influence of alpha thalassemia on clinical and laboratory parameters among nigerian children with sickle cell anemia. ( 30129219 )
2018
16
Development of Visual Detection of α-Thalassemia-1 (the - -SEA Deletion) Using pH-Sensitive Loop-Mediated Isothermal Amplification. ( 30192689 )
2018
17
Rheological properties of sickle erythrocytes in patients with sickle-cell anemia: The effect of hydroxyurea, fetal hemoglobin, and α-thalassemia. ( 30204261 )
2018
18
KFL1 Gene Variants in α-Thalassemia Individuals with Increased Fetal Hemoglobin in a Chinese Population. ( 30205725 )
2018
19
Prevalence of α-Thalassemia in the Egyptian Population. ( 30422721 )
2018
20
Acquired α-thalassemia associated with myelodysplastic syndromes. ( 30442749 )
2018
21
Effect of Assorted Globin Haplotypes and α-Thalassemia on the Clinical Heterogeneity of Hb S-β-Thalassemia. ( 30486691 )
2018
22
Potential new approaches to the management of the Hb Bart's hydrops fetalis syndrome: the most severe form of α-thalassemia. ( 30504332 )
2018
23
Sickle Cell and α+-Thalassemia Traits Influence the Association between Ferritin and Hepcidin in Rural Kenyan Children Aged 14-26 Months. ( 30517728 )
2018
24
Atypical Prenatal Ultrasound Presentation and Neuropathological Findings in a Neonate With Alpha Thalassemia Major: A Case Report. ( 30550718 )
2018
25
A Unique Interaction of IVS-I-1 (G>A) (HBA2: c.95+1G>A) with Hb Adana (HBA2: c.179G>A) Presenting as Transfusion-Dependent α-Thalassemia. ( 30623696 )
2018
26
Various α-Thalassemia Genotype Combinations of the Saudi-Type Polyadenylation Signal Mutation (αT-Saudiα) in the Population of Bahrain: An Update of Genotype-Phenotype Analyses. ( 30864492 )
2018
27
Association between sickle cell anemia and alpha thalassemia reveals a high prevalence of the α3.7 triplication in congolese patients than in worldwide series. ( 28276593 )
2018
28
Alpha thalassemia deletions found in suspected cases of beta thalassemia major in Pakistani population. ( 28523047 )
2017
29
An age dependent response to hydroxyurea in pediatric sickle cell anemia patients with alpha thalassemia trait. ( 28783617 )
2017
30
Variability in State-Based Recommendations for Management of Alpha Thalassemia Trait and Silent Carrier Detected on the Newborn Screen. ( 29273175 )
2017
31
Fetal isovolumetric time intervals as a marker of abnormal cardiac function in fetal anemia from homozygous alpha thalassemia-1 disease. ( 28891254 )
2017
32
Alpha Thalassemia (Hemoglobin H Disease) ( 28722856 )
2017
33
Alpha-Thalassemia Major and Restrictive Foramen Ovale in a Preterm Neonate Without Severe Hydrops Fetalis. ( 28381365 )
2017
34
Cut-Off Values of Hematologic Parameters to Predict the Number of Alpha Genes Deleted in Subjects with Deletional Alpha Thalassemia. ( 29236053 )
2017
35
Alpha Thalassemia/Mental Retardation Syndrome X-Linked, the Alternative Lengthening of Telomere Phenotype, and Gliomagenesis: Current Understandings and Future Potential. ( 29359122 )
2017
36
Widening the spectrum of deletions and molecular mechanisms underlying alpha-thalassemia. ( 28887661 )
2017
37
Do Alpha Thalassemia, Fetal Hemoglobin, and the UGT1A1 Polymorphism have an Influence on Serum Bilirubin Levels and Cholelithiasis in Patients with Sickle Cell Disease? ( 28567595 )
2017
38
Sickle-cell and alpha-thalassemia traits resulting in non-atherosclerotic myocardial infarction: Beyond coincidence? ( 29291201 )
2017
39
Identification of epigenetic signature associated with alpha thalassemia/mental retardation X-linked syndrome. ( 28293299 )
2017
40
Clinical management of the homozygous α-thalassemia with unusual mandibular manifestation of hematopoiesis. ( 28330575 )
2017
41
Changes in HbA2 and HbF in alpha thalassemia carriers with KLF1 mutation. ( 28342932 )
2017
42
Blood Pressure and Arterial Stiffness in Kenyan Adolescents With α+Thalassemia. ( 28381468 )
2017
43
A Comprehensive Molecular Investigation of α-Thalassemia in an Iranian Cohort from Different Provinces of North Iran. ( 28385057 )
2017
44
Establishment of MUi009 - A human induced pluripotent stem cells from a 32year old male with homozygous β°-thalassemia coinherited with heterozygous α-thalassemia 2. ( 28395745 )
2017
45
The Hb E (HBB: c.79G>A), Mean Corpuscular Volume, Mean Corpuscular Hemoglobin Cutoff Points in Double Heterozygous Hb E/- -SEA α-Thalassemia-1 Carriers are Dependent on Hemoglobin Levels. ( 28413893 )
2017
46
Impact of genotype on endocrinal complications of Children with Alpha-thalassemia in China. ( 28592815 )
2017
47
Design, Validation, and Clinical Implementation of a Gap-Polymerase Chain Reaction Method for α-Thalassemia Genotyping Using Capillary Electrophoresis. ( 28595507 )
2017
48
Role of nonsense-mediated decay and nonsense-associated altered splicing in the mRNA pattern of two new α-thalassemia mutants. ( 28743675 )
2017
49
Adrenal insufficiency in non-transfusion-dependent α-thalassemia. ( 28779493 )
2017
50
Molecular diagnosis of α-thalassemia in a multiethnic population. ( 28160324 )
2017

Variations for Alpha-Thalassemia

ClinVar genetic disease variations for Alpha-Thalassemia:

6 (show all 49)
# 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.427T> C (p.Ter143Gln) single nucleotide variant Pathogenic rs41464951 GRCh38 Chromosome 16, 173598: 173598
3 HBA2 NM_000517.6(HBA2): c.377T> C (p.Leu126Pro) single nucleotide variant Pathogenic rs41397847 GRCh37 Chromosome 16, 223547: 223547
4 HBA2 NM_000517.6(HBA2): c.377T> C (p.Leu126Pro) single nucleotide variant Pathogenic rs41397847 GRCh38 Chromosome 16, 173548: 173548
5 HBA2 NM_000517.6(HBA2): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs111033603 GRCh37 Chromosome 16, 222913: 222913
6 HBA2 NM_000517.6(HBA2): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs111033603 GRCh38 Chromosome 16, 172914: 172914
7 HBA2 NM_000517.6(HBA2): c.349G> T (p.Glu117Ter) single nucleotide variant Pathogenic rs33987053 GRCh37 Chromosome 16, 223519: 223519
8 HBA2 NM_000517.6(HBA2): c.349G> T (p.Glu117Ter) single nucleotide variant Pathogenic rs33987053 GRCh38 Chromosome 16, 173520: 173520
9 HBA2 NM_000517.6(HBA2): c.96-2A> G single nucleotide variant Pathogenic rs41457746 GRCh37 Chromosome 16, 223122: 223122
10 HBA2 NM_000517.6(HBA2): c.96-2A> G single nucleotide variant Pathogenic rs41457746 GRCh38 Chromosome 16, 173123: 173123
11 HBA2 NM_000517.6(HBA2): c.70G> T (p.Glu24Ter) single nucleotide variant Pathogenic rs281864819 GRCh37 Chromosome 16, 222981: 222981
12 HBA2 NM_000517.6(HBA2): c.70G> T (p.Glu24Ter) single nucleotide variant Pathogenic rs281864819 GRCh38 Chromosome 16, 172982: 172982
13 HBA2 NM_000517.6(HBA2): c.69C> T (p.Gly23=) single nucleotide variant Likely pathogenic rs63751457 GRCh37 Chromosome 16, 222980: 222980
14 HBA2 NM_000517.6(HBA2): c.69C> T (p.Gly23=) single nucleotide variant Likely pathogenic rs63751457 GRCh38 Chromosome 16, 172981: 172981
15 HBA2 NM_000517.6(HBA2): c.178G> C (p.Gly60Arg) single nucleotide variant Pathogenic rs41328049 GRCh37 Chromosome 16, 223206: 223206
16 HBA2 NM_000517.6(HBA2): c.178G> C (p.Gly60Arg) single nucleotide variant Pathogenic rs41328049 GRCh38 Chromosome 16, 173207: 173207
17 HBA1 NM_000558.4(HBA1): c.43T> Y single nucleotide variant Pathogenic rs33964317 GRCh37 Chromosome 16, 226758: 226758
18 HBA1 NM_000558.4(HBA1): c.43T> Y single nucleotide variant Pathogenic rs33964317 GRCh38 Chromosome 16, 176759: 176759
19 HBA1 NM_000558.5(HBA1): c.223G> C (p.Asp75His) single nucleotide variant Uncertain significance rs28928875 GRCh37 Chromosome 16, 227055: 227055
20 HBA1 NM_000558.5(HBA1): c.223G> C (p.Asp75His) single nucleotide variant Uncertain significance rs28928875 GRCh38 Chromosome 16, 177056: 177056
21 HBA1 HBA1, 21-BP INS-DUP duplication Pathogenic
22 HBA1 HBA1, 33-BP DEL deletion Pathogenic
23 HBA1 HBA1, 1-BP DEL, 354C deletion Pathogenic
24 HBA1; HBA2; HBM; HBZ; LOC106804612; LOC106804613 NM_005332.2(HBZ): c.330_*22601del deletion Pathogenic GRCh37 Chromosome 16, 204300: 227000
25 HBA1; HBA2; HBM; HBZ; LOC106804612; LOC106804613 NM_005332.2(HBZ): c.330_*22601del deletion Pathogenic GRCh38 Chromosome 16, 154301: 177001
26 HBA1; HBA2; LOC106804612; LOC106804613 NG_000006.1: g.34164_37967del3804 deletion Pathogenic GRCh37 Chromosome 16, 223300: 227103
27 HBA1; HBA2; LOC106804612; LOC106804613 NG_000006.1: g.34164_37967del3804 deletion Pathogenic GRCh38 Chromosome 16, 173301: 177104
28 HBA2 NM_000517.4(HBA2): c.94_95delAG (p.Arg32AspfsTer24) deletion Pathogenic rs1057519637 GRCh37 Chromosome 16, 223005: 223006
29 HBA2 NM_000517.4(HBA2): c.94_95delAG (p.Arg32AspfsTer24) deletion Pathogenic rs1057519637 GRCh38 Chromosome 16, 173006: 173007
30 HBA2 NM_000517.4(HBA2): c.95+2_95+6delTGAGG deletion Pathogenic rs41474145 GRCh38 Chromosome 16, 173009: 173013
31 HBA2 NM_000517.4(HBA2): c.95+2_95+6delTGAGG deletion Pathogenic rs41474145 GRCh37 Chromosome 16, 223008: 223012
32 HBA2 NM_000517.6(HBA2): c.207C> G (p.Asn69Lys) single nucleotide variant Likely pathogenic rs111033601 GRCh38 Chromosome 16, 173236: 173236
33 HBA2 NM_000517.6(HBA2): c.207C> G (p.Asn69Lys) single nucleotide variant Likely pathogenic rs111033601 GRCh37 Chromosome 16, 223235: 223235
34 HBA2 NM_000517.6(HBA2): c.339C> G (p.His113Gln) single nucleotide variant no interpretation for the single variant rs63750404 GRCh38 Chromosome 16, 173510: 173510
35 HBA2 NM_000517.6(HBA2): c.339C> G (p.His113Gln) single nucleotide variant no interpretation for the single variant rs63750404 GRCh37 Chromosome 16, 223509: 223509
36 HBA2 NM_000517.4(HBA2): c.340_351delCTCCCCGCCGAG (p.Leu114_Glu117del) deletion no interpretation for the single variant rs63751471 GRCh37 Chromosome 16, 223510: 223521
37 HBA2 NM_000517.4(HBA2): c.340_351delCTCCCCGCCGAG (p.Leu114_Glu117del) deletion no interpretation for the single variant rs63751471 GRCh38 Chromosome 16, 173511: 173522
38 HBA2 NM_000517.6(HBA2): c.*94A> G single nucleotide variant Pathogenic rs63751269 GRCh37 Chromosome 16, 223693: 223693
39 HBA2 NM_000517.6(HBA2): c.*94A> G single nucleotide variant Pathogenic rs63751269 GRCh38 Chromosome 16, 173694: 173694
40 HBA1 NM_000558.5(HBA1): c.207C> A (p.Asn69Lys) single nucleotide variant Pathogenic rs1060339 GRCh38 Chromosome 16, 177040: 177040
41 HBA1 NM_000558.5(HBA1): c.207C> A (p.Asn69Lys) single nucleotide variant Pathogenic rs1060339 GRCh37 Chromosome 16, 227039: 227039
42 HBA2 NM_000517.4: c.-2_-3delAC deletion no interpretation for the single variant
43 HBA2 deletion Pathogenic
44 HBA1; HBA2 NG_000006.1: g.32867_38062del5196 deletion Pathogenic
45 HBA1; HBA2; LOC106804612; LOC106804613 NC_000016.10: g.(172007_173726)_(175811_177537)del deletion Pathogenic GRCh38 Chromosome 16, 172007: 177537
46 HBA1 NC_000016.10: g.(?_151209)_(182142_?)del deletion Pathogenic GRCh38 Chromosome 16, 151209: 182142
47 HBA1 NC_000016.10: g.(?_151209)_(182142_?)del deletion Pathogenic GRCh37 Chromosome 16, 201208: 232141
48 HBA1 NC_000016.10: g.(?_169780)_(182142_?)del deletion Pathogenic GRCh38 Chromosome 16, 169780: 182142
49 HBA1 NC_000016.10: g.(?_169780)_(182142_?)del deletion Pathogenic GRCh37 Chromosome 16, 219779: 232141

Expression for Alpha-Thalassemia

Search GEO for disease gene expression data for Alpha-Thalassemia.

Pathways for Alpha-Thalassemia

Pathways related to Alpha-Thalassemia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 12.05 G6PD HBB HBG1 UGT1A1
2 11.02 HBA1 HBA2 HBB
3
Show member pathways
10.94 HBA1 HBA2 HBB HP
4 10.7 HBA1 HBA2 HBB

GO Terms for Alpha-Thalassemia

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

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.97 G6PD GDF15 HBA1 HBA2 HBB HBZ
2 blood microparticle GO:0072562 9.73 HBA1 HBA2 HBB HBG2 HP TFRC
3 endocytic vesicle lumen GO:0071682 9.46 HBA1 HBA2 HBB HP
4 hemoglobin complex GO:0005833 9.43 HBA1 HBA2 HBB HBG1 HBG2 HBZ
5 pericentric heterochromatin GO:0005721 9.32 ATRX HELLS
6 haptoglobin-hemoglobin complex GO:0031838 9.17 HBA1 HBA2 HBB HBG1 HBG2 HBZ

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 receptor-mediated endocytosis GO:0006898 9.83 HBA1 HBA2 HBB HP TFRC
2 protein heterooligomerization GO:0051291 9.73 HBA1 HBA2 HBB HBG1 HBG2 HBZ
3 cellular oxidant detoxification GO:0098869 9.7 HBA1 HBA2 HBB HBG1 HBG2 HBZ
4 response to hydrogen peroxide GO:0042542 9.67 HBA1 HBA2 HBB HP
5 bicarbonate transport GO:0015701 9.65 HBA1 HBA2 HBB
6 acute-phase response GO:0006953 9.63 EPO HP UGT1A1
7 positive regulation of cell death GO:0010942 9.62 HBA1 HBA2 HBB HP
8 erythrocyte maturation GO:0043249 9.58 EPO G6PD HBZ
9 DNA methylation GO:0006306 9.51 ATRX HELLS
10 Sertoli cell development GO:0060009 9.49 ATRX SOX8
11 hydrogen peroxide catabolic process GO:0042744 9.43 HBA1 HBA2 HBB HBG1 HBG2 HBZ
12 oxygen transport GO:0015671 9.1 HBA1 HBA2 HBB HBG1 HBG2 HBZ

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

# Name GO ID Score Top Affiliating Genes
1 heme binding GO:0020037 9.85 HBA1 HBA2 HBB HBG1 HBG2 HBZ
2 oxygen binding GO:0019825 9.8 HBA1 HBA2 HBB HBG1 HBG2 HBZ
3 peroxidase activity GO:0004601 9.73 HBA1 HBA2 HBB HBG1 HBG2 HBZ
4 iron ion binding GO:0005506 9.63 HBA1 HBA2 HBZ
5 oxygen carrier activity GO:0005344 9.63 HBA1 HBA2 HBB HBG1 HBG2 HBZ
6 organic acid binding GO:0043177 9.43 HBA1 HBA2 HBB HBG1 HBG2 HBZ
7 hemoglobin binding GO:0030492 9.4 HBB HP
8 haptoglobin binding GO:0031720 9.1 HBA1 HBA2 HBB HBG1 HBG2 HBZ
9 protein binding GO:0005515 10.34 ATRX DAXX EPO G6PD GDF15 HBA1

Sources for Alpha-Thalassemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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