MCID: ALP101
MIFTS: 59

Alpha-Thalassemia

Categories: Genetic diseases, Rare diseases, Immune diseases, Blood diseases, Nephrological diseases, Endocrine 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
Α-Thalassemia 25
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 D56 D56.9
ICD9CM 35 282.43
MeSH 44 D017085
NCIt 50 C34368
SNOMED-CT 68 191186002 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, chest pain and edema. 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 bone, skin and heart, 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 99)
# Related Disease Score Top Affiliating Genes
1 alpha-thalassemia/mental retardation syndrome, chromosome 16-related 35.5 HBA1 HBA2
2 alpha-thalassemia/mental retardation syndrome, x-linked 33.9 ATRX DAXX HELLS TP53
3 hydrops fetalis, nonimmune 33.4 HBA1 HBA2
4 hemoglobin h disease 33.1 ATRX EPO HBA1 HBA2 HBB TFRC
5 thalassemia 30.4 ATRX EPO HBA1 HBA2 HBB HBG1
6 hypochromic microcytic anemia 30.3 HBA2 HBB
7 hereditary spherocytosis 30.3 G6PD HBB HBG1 UGT1A1
8 plasmodium falciparum malaria 30.2 G6PD HBB HP
9 microcytic anemia 30.0 EPO HBA1 HBA2 TFRC
10 sickle cell anemia 29.7 EPO HBA1 HBA2 HBB HBG1 HBG2
11 sickle cell disease 29.7 EPO G6PD HBA2 HBB HBG1 HBG2
12 glucosephosphate dehydrogenase deficiency 29.6 G6PD HBB HBG2 HP UGT1A1
13 malaria 29.1 EPO G6PD HBA1 HBA2 HBB HP
14 hemoglobinopathy 29.0 EPO HBA1 HBA2 HBB HBG1 HP
15 myelodysplastic syndrome 28.8 ARHGAP26 ATRX EPO TFRC TP53
16 beta-thalassemia 28.7 EPO G6PD HBA1 HBA2 HBB HBG1
17 hemolytic anemia 28.5 EPO G6PD HBA1 HBA2 HBB HBG2
18 alpha thalassemia-x-linked intellectual disability syndrome 12.8
19 alpha-thalassemia myelodysplasia syndrome 12.6
20 alpha thalassemia-intellectual disability syndrome type 1 12.5
21 alpha-thalassemia-abnormal morphogenesis 12.5
22 mental retardation-hypotonic facies syndrome, x-linked, 1 11.6
23 hemoglobin zurich 10.9 HBA2 HBB
24 diabetes mellitus, insulin-dependent, 24 10.9 HBA1 HBA2
25 hypoglycemic coma 10.9 HBA1 HBA2
26 type 1 diabetes mellitus 7 10.8 HBA1 HBA2
27 type 1 diabetes mellitus 11 10.8 HBA1 HBA2
28 methemoglobinemia, beta-globin type 10.8 HBA1 HBA2 HBB
29 glutathione peroxidase deficiency 10.8 HBA1 HBA2 HBB
30 heinz body anemias 10.8 HBA1 HBA2 HBB
31 acquired methemoglobinemia 10.7 G6PD HBG2
32 immature cataract 10.7 HBA1 HBA2
33 congenital methemoglobinemia 10.7 G6PD HBG2
34 hemoglobinemia 10.7 HBB HP
35 hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome 10.6 HBB HBG1 HBG2
36 hereditary persistence of fetal hemoglobin-sickle cell disease syndrome 10.6 HBB HBG1 HBG2
37 fetal hemoglobin quantitative trait locus 1 10.6 HBB HBG1 HBG2
38 gastric neuroendocrine neoplasm 10.5 ATRX DAXX
39 blackwater fever 10.5 G6PD HP
40 liver angiosarcoma 10.4 HBA1 TP53 UGT1A1
41 methemoglobinemia 10.4 G6PD HBG2 HP
42 anemia, nonspherocytic hemolytic, due to g6pd deficiency 10.4 G6PD HP
43 neonatal anemia 10.4 EPO HBA2
44 acute erythroid leukemia 10.4 EPO HBB HBG1
45 bilirubin metabolic disorder 10.4 G6PD HP UGT1A1
46 folic acid deficiency anemia 10.3 EPO TFRC
47 hydrops fetalis, nonimmune, and/or atrial septal defect 10.3
48 fetal edema 10.3
49 hydrops fetalis 10.3
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

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, chest pain, edema

MGI Mouse Phenotypes related to Alpha-Thalassemia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.23 ATRX DAXX EPO G6PD HELLS NSD1

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
Deferasirox Approved, Investigational Phase 2 201530-41-8 5493381
4
Iron Approved Phase 2,Not Applicable 7439-89-6 23925
5 Chelating Agents Phase 2
6 Iron Chelating Agents Phase 2
7 Liver Extracts Phase 2
8 Micronutrients Phase 2,Not Applicable
9 Trace Elements Phase 2,Not Applicable
10
Menthol Approved Phase 1 2216-51-5 16666
11
Copper Approved, Investigational Not Applicable 7440-50-8 27099
12
Hydroxocobalamin Approved Not Applicable 13422-51-0 11953898 44475014
13
Iodine Approved, Investigational Not Applicable 7553-56-2 807
14
Selenium Approved, Investigational, Vet_approved Not Applicable 7782-49-2
15
Zinc Approved, Investigational Not Applicable 7440-66-6 23994
16
Cyanocobalamin Approved, Nutraceutical Not Applicable 68-19-9 44176380
17
Folic Acid Approved, Nutraceutical, Vet_approved Not Applicable 59-30-3 6037
18
leucovorin Approved, Nutraceutical Not Applicable 58-05-9 143 6006
19
Niacin Approved, Investigational, Nutraceutical Not Applicable 59-67-6 938
20
Nicotinamide Approved, Investigational, Nutraceutical Not Applicable 98-92-0 936
21
Vitamin A Approved, Nutraceutical, Vet_approved Not Applicable 11103-57-4, 68-26-8 445354
22 cadexomer iodine Not Applicable
23 Hepcidins Not Applicable
24 Nicotinic Acids Not Applicable
25 Retinol palmitate Not Applicable
26 Vitamin B 12 Not Applicable
27 Vitamin B Complex Not Applicable
28 Vitamins Not Applicable
29 Vaccines
30 Anti-Arrhythmia Agents
31
Cobalamin Nutraceutical Not Applicable 13408-78-1 6438156
32 Folate Nutraceutical Not Applicable
33 retinol Nutraceutical Not Applicable
34 Vitamin B12 Nutraceutical Not Applicable
35 Vitamin B3 Nutraceutical Not Applicable
36 Vitamin B9 Nutraceutical Not Applicable

Interventional clinical trials:

(show all 18)
# Name Status NCT ID Phase Drugs
1 Colla Corii Asini Treating Anemia in Pregnant Women With Thalassemia(Presenting the Syndrome of Blood Deficiency) Not yet 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 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
4 Phase I/II Pilot Study of Mixed Chimerism to Treat Hemoglobinopathies Suspended NCT01419704 Phase 1, Phase 2
5 In Utero Hematopoietic Stem Cell Transplantation for Alpha-thalassemia Major (ATM) Recruiting NCT02986698 Phase 1
6 Demographic, Clinical and Laboratory Characteristics of Children With Alpha Thalassemia in Northern Israel Completed NCT00971984
7 Genetics of Alpha Thalassemia in Israeli Ethnic Groups Completed NCT00159029
8 Evaluation of the Free α-hemoglobin Pool in the Red Blood Cells : Prognostic Marker and Severity Index in Thalassemic Syndromes Completed NCT02855957 Not Applicable
9 Malaria Studies in Cambodia Completed NCT00663546
10 Is Iron Deficiency the Cause of Anemia Among Women in Cambodia? Completed NCT02481375 Not Applicable
11 Evaluating People With Thalassemia: The Thalassemia Longitudinal Cohort (TLC) Study Completed NCT00661804
12 Preventing the Spread of Malaria in Mali Completed NCT01360112
13 Screening for Alpha Thalassemia in Healthy Volunteers Recruiting NCT02692872
14 Prospective Observational Cohort Study of Fetal Atrial Flutter & Supraventricular Tachycardia Recruiting NCT03376438
15 Evaluation of Nutritional Status in Thalassemia Major Patients in Assiut Children Hospital Not yet recruiting NCT03161899
16 Fetal Birth Defects: Toward a Precision-based Approach Not yet recruiting NCT03412760 Not Applicable
17 Precision Medical Research of Non-immune Fetal Hydrops (NIFH)-From Prenatal Diagnosis to Intrauterine Treatment Not yet recruiting NCT02956564 Not Applicable
18 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
Bone, Skin, Heart, Liver, Testes, Kidney, Skeletal Muscle

Publications for Alpha-Thalassemia

Articles related to Alpha-Thalassemia:

(show top 50) (show all 445)
# Title Authors Year
1
Hb Adana (HBA2 or HBA1: c.179GA >A A) and alpha thalassemia: Genotype-phenotype correlation. ( 29749692 )
2018
2
The incidental detection of alpha thalassemia. ( 29576180 )
2018
3
An Observational Study of the Effect of Hemoglobinopathy, Alpha Thalassemia and Hemoglobin E on <i>P. Vivax</i> Parasitemia. ( 29531652 )
2018
4
Genetics of Iranian Alpha-Thalassemia Patients: A Comprehensive Original Study. ( 29627922 )
2018
5
Alpha thalassemia deletions found in suspected cases of beta thalassemia major in Pakistani population. ( 28523047 )
2017
6
An age dependent response to hydroxyurea in pediatric sickle cell anemia patients with alpha thalassemia trait. ( 28783617 )
2017
7
Variability in State-Based Recommendations for Management of Alpha Thalassemia Trait and Silent Carrier Detected on the Newborn Screen. ( 29273175 )
2017
8
Alpha Thalassemia (Hemoglobin H Disease) ( 28722856 )
2017
9
Alpha-Thalassemia Major and Restrictive Foramen Ovale in a Preterm Neonate Without Severe Hydrops Fetalis. ( 28381365 )
2017
10
Cut-Off Values of Hematologic Parameters to Predict the Number of Alpha Genes Deleted in Subjects with Deletional Alpha Thalassemia. ( 29236053 )
2017
11
Alpha Thalassemia/Mental Retardation Syndrome X-Linked, the Alternative Lengthening of Telomere Phenotype, and Gliomagenesis: Current Understandings and Future Potential. ( 29359122 )
2017
12
Widening the spectrum of deletions and molecular mechanisms underlying alpha-thalassemia. ( 28887661 )
2017
13
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
14
Sickle-cell and alpha-thalassemia traits resulting in non-atherosclerotic myocardial infarction: Beyond coincidence? ( 29291201 )
2017
15
Favorable outcomes after in utero transfusion in fetuses with alpha thalassemia major: a case series and review of the literature. ( 27862048 )
2016
16
A novel missense mutation in ATRX uncovered in a Yemeni family leads to alpha-thalassemia/mental retardation syndrome without alpha-thalassemia. ( 26860117 )
2016
17
Disease-modifying influences of coexistent G6PD-deficiency, Gilbert syndrome and deletional alpha thalassemia in hereditary spherocytosis: A report of three cases. ( 27108201 )
2016
18
APOL1, Alpha thalassemia, and BCL11A variants as a genetic risk profile for progression of chronic kidney disease in sickle cell anemia. ( 27658436 )
2016
19
Thrombocytosis in a patient with alpha thalassemia trait. ( 25741014 )
2015
20
Parvovirus B19 infection presenting with severe erythroid aplastic crisis during pregnancy in a woman with autoimmune hemolytic anemia and alpha-thalassemia trait: a case report. ( 25889935 )
2015
21
Alpha thalassemia trait masquerading as hemoglobin H disease due to co-existing primary myelofibrosis. ( 25465234 )
2015
22
Alpha-thalassemia mutations in adana province, southern Turkey: genotype-phenotype correlation. ( 25825562 )
2015
23
Alpha thalassemia allelic frequency in Lebanon. ( 25284125 )
2015
24
Insulin resistance, impaired glucose tolerance and alpha-thalassemia carrier state. ( 25722965 )
2015
25
Evaluation of Alpha-Thalassemia Mutations in Cases with Hypochromic Microcytic Anemia: The A^stanbul Perspective. ( 26377141 )
2015
26
Distribution of alpha-thalassemia mutations in Iranian population. ( 25553732 )
2015
27
Alpha-thalassemia X-linked intellectual disability syndrome identified by whole exome sequencing in two boys with white matter changes and developmental retardation. ( 25936994 )
2015
28
Prevalence of alpha thalassemia in microcytic anemia: a tertiary care experience from north India. ( 25574363 )
2015
29
Serum Total Bilirubin, not Cholelithiasis, is Influenced by UGT1A1 Polymorphism, Alpha Thalassemia and I^(s) Haplotype: First Report on Comparison between Arab-Indian and African I^(s) Genes. ( 26543529 )
2015
30
Characterization of the Drosophila group ortholog to the amino-terminus of the alpha-thalassemia and mental retardation X-Linked (ATRX) vertebrate protein. ( 25437195 )
2014
31
Frequency of beta-thalassemia or beta-hemoglobinopathy carriers simultaneously affected with alpha-thalassemia in Iran. ( 25016698 )
2014
32
The co-inheritance of alpha-thalassemia and sickle cell anemia is associated with better hematological indices and lower consultations rate in Cameroonian patients and could improve their survival. ( 24978191 )
2014
33
Hb Cibeles [I+2 CD25(B6) (GlyA a89A Asp)]: a novel alpha chain variant causing alpha-thalassemia. ( 25212678 )
2014
34
Acquired alpha thalassemia associated with erythroleukemia. ( 23760802 )
2014
35
Association of alpha-thalassemia, TNF-alpha (-308G&amp;gt;A) and VCAM-1 (c.1238G&amp;gt;C) gene polymorphisms with cerebrovascular disease in a newborn cohort of 411 children with sickle cell anemia. ( 25175566 )
2014
36
The associations of SEA-alpha thalassemia 1, XmnI-Ggamma polymorphism and beta-globin gene mutations with the clinical severity of beta-thalassemia syndrome in northern Thailand. ( 25123009 )
2014
37
Alpha-thalassemia intellectual disability: variable phenotypic expression among males with a recurrent nonsense mutationA -A c.109C&amp;gt;T (p.R37X). ( 24805811 )
2014
38
A novel alpha-thalassemia nonsense mutation in HBA2: C.382 A &amp;gt; T globin gene. ( 24979558 )
2014
39
Prevalence of deletional alpha thalassemia and sickle gene in a tribal dominated malaria endemic area of eastern India. ( 24808962 )
2014
40
Elevated middle cerebral artery peak systolic velocity as a prenatal manifestation of heterozygous type 2 alpha-thalassemia. ( 23290248 )
2013
41
Alpha thalassemia/mental retardation syndrome X-linked gene product ATRX is required for proper replication restart and cellular resistance to replication stress. ( 23329831 )
2013
42
Alpha thalassemia protects sickle cell anemia patients from macro-albuminuria through its effects on red blood cell rheological properties. ( 24004554 )
2013
43
Fetal hemoglobin and alpha thalassemia modulate the phenotypic expression of HbSD-Punjab. ( 24245819 )
2013
44
Comparison of hematocrit/hemoglobin ratios in subjects with alpha-thalassemia, with subjects having chronic kidney disease and normal subjects. ( 24050107 )
2013
45
Alpha thalassemia gene mutations in neonates from Mazandaran, Iran, 2012. ( 24074530 )
2013
46
Advances in the treatment of alpha-thalassemia. ( 22631041 )
2012
47
Report of haemoglobin J-Toronto and alpha thalassemia in a family from North of Iran. ( 22755290 )
2012
48
The contribution of extramedullary hematopoiesis to hepatomegaly in anemic hydrops fetalis: a study in alpha-thalassemia hydrops fetalis. ( 22369064 )
2012
49
Detection of common deletional alpha-thalassemia spectrum by molecular technique in kelantan, northeastern malaysia. ( 22888447 )
2012
50
Alpha-thalassemia protects against cerebrovascular disease in children with sickle cell anemia. ( 22899043 )
2012

Variations for Alpha-Thalassemia

ClinVar genetic disease variations for Alpha-Thalassemia:

6
(show all 47)
# 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 HBA1, 21-BP INS-DUP duplication Pathogenic
20 HBA1 HBA1, 33-BP DEL deletion Pathogenic
21 HBA1 HBA1, 1-BP DEL, 354C deletion Pathogenic
22 HBA1; HBA2; HBM; HBZ; LOC106804612; LOC106804613 NM_005332.2(HBZ): c.330_*22601del deletion Pathogenic GRCh37 Chromosome 16, 204300: 227000
23 HBA1; HBA2; HBM; HBZ; LOC106804612; LOC106804613 NM_005332.2(HBZ): c.330_*22601del deletion Pathogenic GRCh38 Chromosome 16, 154301: 177001
24 HBA2 NG_000006.1: g.34164_37967del3804 deletion Pathogenic GRCh37 Chromosome 16, 223300: 227103
25 HBA2 NG_000006.1: g.34164_37967del3804 deletion Pathogenic GRCh38 Chromosome 16, 173301: 177104
26 HBA2 NM_000517.4(HBA2): c.94_95delAG (p.Arg32AspfsTer24) deletion Pathogenic rs1057519637 GRCh37 Chromosome 16, 223005: 223006
27 HBA2 NM_000517.4(HBA2): c.94_95delAG (p.Arg32AspfsTer24) deletion Pathogenic rs1057519637 GRCh38 Chromosome 16, 173006: 173007
28 HBA2 NM_000517.4(HBA2): c.95+2_95+6delTGAGG deletion Pathogenic rs41474145 GRCh38 Chromosome 16, 173009: 173013
29 HBA2 NM_000517.4(HBA2): c.95+2_95+6delTGAGG deletion Pathogenic rs41474145 GRCh37 Chromosome 16, 223008: 223012
30 HBA2 NM_000517.4(HBA2): c.207C> G (p.Asn69Lys) single nucleotide variant Likely pathogenic rs111033601 GRCh38 Chromosome 16, 173236: 173236
31 HBA2 NM_000517.4(HBA2): c.207C> G (p.Asn69Lys) single nucleotide variant Likely pathogenic rs111033601 GRCh37 Chromosome 16, 223235: 223235
32 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
33 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
34 HBA2 NM_000517.4(HBA2): c.340_351delCTCCCCGCCGAG (p.Leu114_Glu117del) deletion no interpretation for the single variant rs63751471 GRCh37 Chromosome 16, 223510: 223521
35 HBA2 NM_000517.4(HBA2): c.340_351delCTCCCCGCCGAG (p.Leu114_Glu117del) deletion no interpretation for the single variant rs63751471 GRCh38 Chromosome 16, 173511: 173522
36 HBA2 NM_000517.4(HBA2): c.*94A> G single nucleotide variant Pathogenic rs63751269 GRCh37 Chromosome 16, 223693: 223693
37 HBA2 NM_000517.4(HBA2): c.*94A> G single nucleotide variant Pathogenic rs63751269 GRCh38 Chromosome 16, 173694: 173694
38 HBA1 NM_000558.4(HBA1): c.207C> A (p.Asn69Lys) single nucleotide variant Pathogenic rs1060339 GRCh37 Chromosome 16, 227039: 227039
39 HBA1 NM_000558.4(HBA1): c.207C> A (p.Asn69Lys) single nucleotide variant Pathogenic rs1060339 GRCh38 Chromosome 16, 177040: 177040
40 HBA2 NM_000517.4: c.-2_-3delAC deletion no interpretation for the single variant
41 HBA2 deletion Pathogenic
42 HBA1; HBA2 NG_000006.1: g.32867_38062del5196 deletion Pathogenic
43 HBA1; HBA2; LOC106804612; LOC106804613 NC_000016.10: g.(172007_173726)_(175811_177537)del deletion Pathogenic GRCh38 Chromosome 16, 172007: 177537
44 HBA1 NC_000016.10: g.(?_151209)_(182142_?)del deletion Pathogenic GRCh38 Chromosome 16, 151209: 182142
45 HBA1 NC_000016.10: g.(?_151209)_(182142_?)del deletion Pathogenic GRCh37 Chromosome 16, 201208: 232141
46 HBA1 NC_000016.10: g.(?_169780)_(182142_?)del deletion Pathogenic GRCh38 Chromosome 16, 169780: 182142
47 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 9.58 ATRX DAXX TP53
3 endocytic vesicle lumen GO:0071682 9.46 HBA1 HBA2 HBB HP
4 pericentric heterochromatin GO:0005721 9.37 ATRX HELLS
5 SWI/SNF superfamily-type complex GO:0070603 9.32 ATRX DAXX
6 haptoglobin-hemoglobin complex GO:0031838 9.26 HBA1 HBA2 HBB HP
7 hemoglobin complex GO:0005833 9.1 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 9.77 HBA1 HBA2 HBB HP TFRC
2 protein heterooligomerization GO:0051291 9.65 HBA1 HBA2 HBB
3 bicarbonate transport GO:0015701 9.63 HBA1 HBA2 HBB
4 cellular oxidant detoxification GO:0098869 9.62 HBA1 HBA2 HBB HP
5 acute-phase response GO:0006953 9.61 EPO HP UGT1A1
6 hydrogen peroxide catabolic process GO:0042744 9.58 HBA1 HBA2 HBB
7 DNA damage response, signal transduction by p53 class mediator GO:0030330 9.51 ATRX TP53
8 Sertoli cell development GO:0060009 9.49 ATRX SOX8
9 response to hydrogen peroxide GO:0042542 9.46 HBA1 HBA2 HBB HP
10 erythrocyte maturation GO:0043249 9.43 EPO G6PD HBZ
11 positive regulation of cell death GO:0010942 9.26 HBA1 HBA2 HBB HP
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 iron ion binding GO:0005506 9.73 HBA1 HBA2 HBB HBG1 HBG2 HBZ
2 heme binding GO:0020037 9.63 HBA1 HBA2 HBB HBG1 HBG2 HBZ
3 peroxidase activity GO:0004601 9.54 HBA1 HBA2 HBB
4 haptoglobin binding GO:0031720 9.5 HBA1 HBA2 HBB
5 oxygen binding GO:0019825 9.43 HBA1 HBA2 HBB HBG1 HBG2 HBZ
6 hemoglobin binding GO:0030492 9.4 HBB HP
7 oxygen carrier activity GO:0005344 9.1 HBA1 HBA2 HBB HBG1 HBG2 HBZ

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
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