A-THAL
MCID: ALP101
MIFTS: 60

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 57 12 76 24 53 25 59 75 55 44 73
Alpha Thalassemia 12 53 25 29 6 15
Thalassemia, Alpha- 57 13
Alpha Plus Thalassemia 6
Thalassemias, Alpha- 57
Alpha^+^ Thalassemia 73
Alpha Thalassaemia 12
Thalassemia, Alpha 40
a-Thalassemia 53
Thalassemia 73
a-Thal 75

Characteristics:

Orphanet epidemiological data:

59
alpha-thalassemia
Inheritance: Autosomal recessive; Age of onset: All ages; Age of death: normal life expectancy;

Classifications:



External Ids:

OMIM 57 604131
Disease Ontology 12 DOID:1099
ICD10 33 D56.0
ICD9CM 35 282.43
MeSH 44 D017085
NCIt 50 C34368
SNOMED-CT 68 68913001
Orphanet 59 ORPHA846
MESH via Orphanet 45 D017085
ICD10 via Orphanet 34 D56.0
UMLS via Orphanet 74 C0002312 C1456873
MedGen 42 C0002312

Summaries for Alpha-Thalassemia

UniProtKB/Swiss-Prot : 75 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 Factors involved in megakaryocyte development and platelet production. The drugs Darbepoetin alfa and Hematinics have been mentioned in the context of this disorder. Affiliated tissues include heart, skin and bone, and related phenotypes are splenomegaly and cognitive impairment

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 : 53 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 : 76 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 111)
# Related Disease Score Top Affiliating Genes
1 alpha-thalassemia/mental retardation syndrome, chromosome 16-related 34.7 HBA1 HBA2
2 alpha-thalassemia/mental retardation syndrome, x-linked 34.3 ATRX DAXX HELLS TP53
3 alpha thalassemia-intellectual disability syndrome type 1 34.2 ATRX HBA1 HBA2 HBB SOX8
4 hemoglobin h disease 33.4 ATRX EPO G6PD HBA1 HBA2 HBB
5 hydrops fetalis, nonimmune 32.6 HBA1 HBA2
6 thalassemia 32.2 ATRX EPO HBA1 HBA2 HBB HBG1
7 sickle cell disease 30.6 EPO G6PD HBA2 HBB HBG1 HBG2
8 sickle cell anemia 30.5 EPO G6PD HBA1 HBA2 HBB HBG1
9 malaria 30.3 EPO G6PD HBA1 HBA2 HBB HP
10 glucosephosphate dehydrogenase deficiency 30.1 G6PD HBB HBG2 HP UGT1A1
11 beta-thalassemia 30.1 EPO G6PD HBA1 HBA2 HBB HBG1
12 microcytic anemia 30.1 EPO HBA1 HBA2 TFRC
13 plasmodium falciparum malaria 29.9 G6PD HBB HP
14 hypochromic microcytic anemia 29.9 HBA2 HBB
15 hemoglobinopathy 29.8 EPO HBA1 HBA2 HBB HBG1 HP
16 hereditary spherocytosis 29.8 G6PD HBB HBG1 KLF1 TFRC UGT1A1
17 deficiency anemia 29.6 EPO G6PD HBA2 HBB HBG2 HP
18 hemolytic anemia 29.5 EPO G6PD HBA1 HBA2 HBB HBG2
19 alpha thalassemia-x-linked intellectual disability syndrome 12.9
20 alpha-thalassemia myelodysplasia syndrome 12.8
21 alpha-thalassemia-abnormal morphogenesis 12.6
22 mental retardation-hypotonic facies syndrome, x-linked, 1 11.7
23 hydrops fetalis, nonimmune, and/or atrial septal defect 10.4
24 fetal edema 10.4
25 hydrops fetalis 10.4
26 diabetes mellitus, insulin-dependent, 24 10.3 HBA1 HBA2
27 hemoglobin zurich 10.3 HBA2 HBB
28 immune hydrops fetalis 10.3 HBA1 HBA2
29 hypoglycemic coma 10.3 HBA1 HBA2
30 erythrocytosis, familial, 7 10.3 HBA1 HBA2
31 hemoglobinemia 10.2 HBB HP
32 type 1 diabetes mellitus 7 10.2 HBA1 HBA2
33 methemoglobinemia, beta-globin type 10.2 HBA1 HBA2 HBB
34 glutathione peroxidase deficiency 10.2 HBA1 HBA2 HBB
35 acquired methemoglobinemia 10.2 G6PD HBG2
36 heinz body anemias 10.2 HBA1 HBA2 HBB
37 type 1 diabetes mellitus 11 10.2 HBA1 HBA2
38 congenital methemoglobinemia 10.2 G6PD HBG2
39 myelodysplastic syndrome 10.2
40 immature cataract 10.2 HBA1 HBA2
41 fetal hemoglobin quantitative trait locus 1 10.2 HBB HBG1 HBG2
42 blood protein disease 10.2 HBB HBG1 HBG2
43 blood group incompatibility 10.2 G6PD KLF1
44 blackwater fever 10.1 G6PD HP
45 iron metabolism disease 10.1
46 liver angiosarcoma 10.1 HBA1 TP53 UGT1A1
47 gastric neuroendocrine neoplasm 10.1 ATRX DAXX
48 iron overload in africa 10.1 HBB HP TFRC
49 bilirubin metabolic disorder 10.1 G6PD HP UGT1A1
50 folic acid deficiency anemia 10.1 EPO TFRC

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



Diseases related to Alpha-Thalassemia

Symptoms & Phenotypes for Alpha-Thalassemia

Clinical features from OMIM:

604131

Human phenotypes related to Alpha-Thalassemia:

59 32 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 splenomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001744
2 cognitive impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0100543
3 hemolytic anemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001878
4 myelodysplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002863
5 hydrops fetalis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001789
6 cholelithiasis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001081
7 microcytic anemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001935
8 abnormal hemoglobin 59 32 hallmark (90%) Very frequent (99-80%) HP:0011902
9 jaundice 59 32 occasional (7.5%) Occasional (29-5%) HP:0000952
10 hypersplenism 59 32 occasional (7.5%) Occasional (29-5%) HP:0001971
11 abnormality of immune system physiology 59 32 occasional (7.5%) Occasional (29-5%) HP:0010978
12 anemia 59 Occasional (29-5%)
13 hypochromic microcytic anemia 32 HP:0004840
14 reduced alpha/beta synthesis ratio 32 HP:0011907

UMLS symptoms related to Alpha-Thalassemia:


angina pectoris, edema, chest pain

MGI Mouse Phenotypes related to Alpha-Thalassemia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.61 ATRX DAXX EPO G6PD HELLS KLF1
2 mortality/aging MP:0010768 9.4 ATRX DAXX EPO G6PD HBA2 HBZ

Drugs & Therapeutics for Alpha-Thalassemia

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

(show all 35)
# 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 Phase 2,Not Applicable 7439-89-6 23925
4
Deferasirox Approved, Investigational Phase 2 201530-41-8 5493381
5 Micronutrients Phase 2,Not Applicable
6 Liver Extracts Phase 2
7 Chelating Agents Phase 2
8 Iron Chelating Agents Phase 2
9 Trace Elements Phase 2,Not Applicable
10
Nicotinamide Approved, Investigational Not Applicable 98-92-0 936
11
Selenium Approved, Investigational, Vet_approved Not Applicable 7782-49-2
12
Iodine Approved, Investigational Not Applicable 7553-56-2 807
13
Copper Approved, Investigational Not Applicable 7440-50-8 27099
14
Hydroxocobalamin Approved Not Applicable 13422-51-0 11953898 44475014
15
Zinc Approved, Investigational Not Applicable 7440-66-6
16
leucovorin Approved Not Applicable 58-05-9 6006 143
17
Niacin Approved, Investigational, Nutraceutical Not Applicable 59-67-6 938
18
Cyanocobalamin Approved, Nutraceutical Not Applicable 68-19-9 44176380
19
Folic Acid Approved, Nutraceutical, Vet_approved Not Applicable 59-30-3 6037
20
Vitamin A Approved, Nutraceutical, Vet_approved Not Applicable 11103-57-4, 68-26-8 445354
21
Cobalamin Experimental Not Applicable 13408-78-1 6438156
22 Vitamin B 12 Not Applicable
23 Vitamin B3 Not Applicable
24 Vitamins Not Applicable
25 Vitamin B9 Not Applicable
26 Retinol palmitate Not Applicable
27 retinol Not Applicable
28 cadexomer iodine Not Applicable
29 Vitamin B Complex Not Applicable
30 Folate Not Applicable
31 Hepcidins Not Applicable
32 Vitamin B12 Not Applicable
33 Nicotinic Acids Not Applicable
34 Vaccines
35 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 29 HBA1 HBA2 HBB

Anatomical Context for Alpha-Thalassemia

MalaCards organs/tissues related to Alpha-Thalassemia:

41
Heart, Skin, Bone, Testes, Liver, Kidney, Placenta

Publications for Alpha-Thalassemia

Articles related to Alpha-Thalassemia:

(show top 50) (show all 818)
# Title Authors Year
1
Borderline hemoglobin A2 levels in northern Thai population: HBB genotypes and effects of coinherited alpha-thalassemia. ( 30309760 )
2019
2
Hb Adana (HBA2 or HBA1: c.179GA >A A) and alpha thalassemia: Genotype-phenotype correlation. ( 29749692 )
2018
3
The incidental detection of alpha thalassemia. ( 29576180 )
2018
4
An Observational Study of the Effect of Hemoglobinopathy, Alpha Thalassemia and Hemoglobin E on <i>P. Vivax</i> Parasitemia. ( 29531652 )
2018
5
Genetics of Iranian Alpha-Thalassemia Patients: A Comprehensive Original Study. ( 29627922 )
2018
6
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
7
A prospective analysis for prevalence of complications in Thai nontransfusion-dependent Hb E/β-thalassemia and α-thalassemia (Hb H disease). ( 29359464 )
2018
8
A modified sandwich ELISA for accurate measurement of HbF in α-thalassemia carriers containing Hb Bart's and Hb Portland 1. ( 29985765 )
2018
9
Epitope mapping of an anti-alpha thalassemia/mental retardation syndrome X-linked monoclonal antibody AMab-6. ( 30073207 )
2018
10
Influence of alpha thalassemia on clinical and laboratory parameters among nigerian children with sickle cell anemia. ( 30129219 )
2018
11
Development of Visual Detection of α-Thalassemia-1 (the - -SEA Deletion) Using pH-Sensitive Loop-Mediated Isothermal Amplification. ( 30192689 )
2018
12
Rheological properties of sickle erythrocytes in patients with sickle-cell anemia: The effect of hydroxyurea, fetal hemoglobin, and α-thalassemia. ( 30204261 )
2018
13
KFL1 Gene Variants in α-Thalassemia Individuals with Increased Fetal Hemoglobin in a Chinese Population. ( 30205725 )
2018
14
Prevalence of α-Thalassemia in the Egyptian Population. ( 30422721 )
2018
15
Acquired α-thalassemia associated with myelodysplastic syndromes. ( 30442749 )
2018
16
Effect of Assorted Globin Haplotypes and α-Thalassemia on the Clinical Heterogeneity of Hb S-β-Thalassemia. ( 30486691 )
2018
17
Potential new approaches to the management of the Hb Bart's hydrops fetalis syndrome: the most severe form of α-thalassemia. ( 30504332 )
2018
18
Sickle Cell and α+-Thalassemia Traits Influence the Association between Ferritin and Hepcidin in Rural Kenyan Children Aged 14-26 Months. ( 30517728 )
2018
19
Atypical Prenatal Ultrasound Presentation and Neuropathological Findings in a Neonate With Alpha Thalassemia Major: A Case Report. ( 30550718 )
2018
20
Alpha thalassemia deletions found in suspected cases of beta thalassemia major in Pakistani population. ( 28523047 )
2017
21
An age dependent response to hydroxyurea in pediatric sickle cell anemia patients with alpha thalassemia trait. ( 28783617 )
2017
22
Variability in State-Based Recommendations for Management of Alpha Thalassemia Trait and Silent Carrier Detected on the Newborn Screen. ( 29273175 )
2017
23
Fetal isovolumetric time intervals as a marker of abnormal cardiac function in fetal anemia from homozygous alpha thalassemia-1 disease. ( 28891254 )
2017
24
Alpha Thalassemia (Hemoglobin H Disease) ( 28722856 )
2017
25
Alpha-Thalassemia Major and Restrictive Foramen Ovale in a Preterm Neonate Without Severe Hydrops Fetalis. ( 28381365 )
2017
26
Cut-Off Values of Hematologic Parameters to Predict the Number of Alpha Genes Deleted in Subjects with Deletional Alpha Thalassemia. ( 29236053 )
2017
27
Alpha Thalassemia/Mental Retardation Syndrome X-Linked, the Alternative Lengthening of Telomere Phenotype, and Gliomagenesis: Current Understandings and Future Potential. ( 29359122 )
2017
28
Widening the spectrum of deletions and molecular mechanisms underlying alpha-thalassemia. ( 28887661 )
2017
29
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
30
Sickle-cell and alpha-thalassemia traits resulting in non-atherosclerotic myocardial infarction: Beyond coincidence? ( 29291201 )
2017
31
APOL1, α-thalassemia, and BCL11A variants as a genetic risk profile for progression of chronic kidney disease in sickle cell anemia. ( 27658436 )
2017
32
Molecular diagnosis of α-thalassemia in a multiethnic population. ( 28160324 )
2017
33
Identification of epigenetic signature associated with alpha thalassemia/mental retardation X-linked syndrome. ( 28293299 )
2017
34
Clinical management of the homozygous α-thalassemia with unusual mandibular manifestation of hematopoiesis. ( 28330575 )
2017
35
Changes in HbA2 and HbF in alpha thalassemia carriers with KLF1 mutation. ( 28342932 )
2017
36
Blood Pressure and Arterial Stiffness in Kenyan Adolescents With α+Thalassemia. ( 28381468 )
2017
37
A Comprehensive Molecular Investigation of α-Thalassemia in an Iranian Cohort from Different Provinces of North Iran. ( 28385057 )
2017
38
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
39
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
40
Impact of genotype on endocrinal complications of Children with Alpha-thalassemia in China. ( 28592815 )
2017
41
Design, Validation, and Clinical Implementation of a Gap-Polymerase Chain Reaction Method for α-Thalassemia Genotyping Using Capillary Electrophoresis. ( 28595507 )
2017
42
Role of nonsense-mediated decay and nonsense-associated altered splicing in the mRNA pattern of two new α-thalassemia mutants. ( 28743675 )
2017
43
Adrenal insufficiency in non-transfusion-dependent α-thalassemia. ( 28779493 )
2017
44
Favorable outcomes after in utero transfusion in fetuses with alpha thalassemia major: a case series and review of the literature. ( 27862048 )
2016
45
A novel missense mutation in ATRX uncovered in a Yemeni family leads to alpha-thalassemia/mental retardation syndrome without alpha-thalassemia. ( 26860117 )
2016
46
Disease-modifying influences of coexistent G6PD-deficiency, Gilbert syndrome and deletional alpha thalassemia in hereditary spherocytosis: A report of three cases. ( 27108201 )
2016
47
G6PD deficiency and absence of α-thalassemia increase the risk for cerebral vasculopathy in children with sickle cell anemia. ( 26072930 )
2016
48
First-trimester combined screening for trisomy 21 in women at risk for α-thalassemia. ( 26169708 )
2016
49
Control materials for immunochromatographic strip used for α-thalassemia screening. ( 26393330 )
2016
50
Symptomatic Erythrocytosis Due to Homozygosity for Hb Luton [HBA2: c.269A>T (or HBA1)] and α-Thalassemia: A Clinical Update. ( 26852627 )
2016

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_000517.4(HBA2): c.377T> C (p.Leu126Pro) single nucleotide variant Pathogenic rs41397847 GRCh37 Chromosome 16, 223547: 223547
4 HBA2 NM_000517.4(HBA2): c.377T> C (p.Leu126Pro) single nucleotide variant Pathogenic rs41397847 GRCh38 Chromosome 16, 173548: 173548
5 HBA2 NM_000517.4(HBA2): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs111033603 GRCh37 Chromosome 16, 222913: 222913
6 HBA2 NM_000517.4(HBA2): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs111033603 GRCh38 Chromosome 16, 172914: 172914
7 HBA2 NM_000517.4(HBA2): c.349G> T (p.Glu117Ter) single nucleotide variant Pathogenic rs33987053 GRCh37 Chromosome 16, 223519: 223519
8 HBA2 NM_000517.4(HBA2): c.349G> T (p.Glu117Ter) single nucleotide variant Pathogenic rs33987053 GRCh38 Chromosome 16, 173520: 173520
9 HBA2 NM_000517.4(HBA2): c.96-2A> G single nucleotide variant Pathogenic rs41457746 GRCh37 Chromosome 16, 223122: 223122
10 HBA2 NM_000517.4(HBA2): c.96-2A> G single nucleotide variant Pathogenic rs41457746 GRCh38 Chromosome 16, 173123: 173123
11 HBA2 NM_000517.4(HBA2): c.70G> T (p.Glu24Ter) single nucleotide variant Pathogenic rs281864819 GRCh37 Chromosome 16, 222981: 222981
12 HBA2 NM_000517.4(HBA2): c.70G> T (p.Glu24Ter) single nucleotide variant Pathogenic rs281864819 GRCh38 Chromosome 16, 172982: 172982
13 HBA2 NM_000517.4(HBA2): c.69C> T (p.Gly23=) single nucleotide variant Pathogenic rs63751457 GRCh37 Chromosome 16, 222980: 222980
14 HBA2 NM_000517.4(HBA2): c.69C> T (p.Gly23=) single nucleotide variant Pathogenic rs63751457 GRCh38 Chromosome 16, 172981: 172981
15 HBA2 NM_000517.4(HBA2): c.178G> C (p.Gly60Arg) single nucleotide variant Pathogenic rs41328049 GRCh37 Chromosome 16, 223206: 223206
16 HBA2 NM_000517.4(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_000558.4(HBA1): c.223G> C (p.Asp75His) single nucleotide variant Uncertain significance rs28928875 GRCh37 Chromosome 16, 227055: 227055
20 HBA1 NM_000558.4(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_000517.4(HBA2): c.207C> G (p.Asn69Lys) single nucleotide variant Likely pathogenic rs111033601 GRCh38 Chromosome 16, 173236: 173236
33 HBA2 NM_000517.4(HBA2): c.207C> G (p.Asn69Lys) single nucleotide variant Likely pathogenic rs111033601 GRCh37 Chromosome 16, 223235: 223235
34 HBA2 NM_000517.4(HBA2): c.339C> G (p.His113Gln) single nucleotide variant no interpretation for the single variant rs63750404 GRCh38 Chromosome 16, 173510: 173510
35 HBA2 NM_000517.4(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_000517.4(HBA2): c.*94A> G single nucleotide variant Pathogenic rs63751269 GRCh37 Chromosome 16, 223693: 223693
39 HBA2 NM_000517.4(HBA2): c.*94A> G single nucleotide variant Pathogenic rs63751269 GRCh38 Chromosome 16, 173694: 173694
40 HBA1 NM_000558.4(HBA1): c.207C> A (p.Asn69Lys) single nucleotide variant Pathogenic rs1060339 GRCh37 Chromosome 16, 227039: 227039
41 HBA1 NM_000558.4(HBA1): c.207C> A (p.Asn69Lys) single nucleotide variant Pathogenic rs1060339 GRCh38 Chromosome 16, 177040: 177040
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

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 blood microparticle GO:0072562 9.73 HBA1 HBA2 HBB HBG2 HP TFRC
2 PML body GO:0016605 9.5 ATRX DAXX TP53
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 9.37 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 14)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.92 EPO KLF1 NSD1 SOX8 TP53
2 receptor-mediated endocytosis GO:0006898 9.83 HBA1 HBA2 HBB HP TFRC
3 protein heterooligomerization GO:0051291 9.73 HBA1 HBA2 HBB HBG1 HBG2 HBZ
4 cellular oxidant detoxification GO:0098869 9.7 HBA1 HBA2 HBB HBG1 HBG2 HBZ
5 response to hydrogen peroxide GO:0042542 9.67 HBA1 HBA2 HBB HP
6 bicarbonate transport GO:0015701 9.65 HBA1 HBA2 HBB
7 acute-phase response GO:0006953 9.63 EPO HP UGT1A1
8 positive regulation of cell death GO:0010942 9.62 HBA1 HBA2 HBB HP
9 erythrocyte maturation GO:0043249 9.58 EPO G6PD HBZ
10 DNA methylation GO:0006306 9.54 ATRX HELLS
11 DNA damage response, signal transduction by p53 class mediator GO:0030330 9.51 ATRX TP53
12 Sertoli cell development GO:0060009 9.49 ATRX SOX8
13 hydrogen peroxide catabolic process GO:0042744 9.43 HBA1 HBA2 HBB HBG1 HBG2 HBZ
14 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 oxygen carrier activity GO:0005344 9.63 HBA1 HBA2 HBB HBG1 HBG2 HBZ
5 organic acid binding GO:0043177 9.43 HBA1 HBA2 HBB HBG1 HBG2 HBZ
6 hemoglobin binding GO:0030492 9.4 HBB HP
7 haptoglobin binding GO:0031720 9.1 HBA1 HBA2 HBB HBG1 HBG2 HBZ
8 protein binding GO:0005515 10.34 ATRX DAXX EPO G6PD HBA1 HBA2

Sources for Alpha-Thalassemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....