A-THAL
MCID: ALP101
MIFTS: 62

Alpha-Thalassemia (A-THAL)

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

Aliases & Classifications for Alpha-Thalassemia

MalaCards integrated aliases for Alpha-Thalassemia:

Name: Alpha-Thalassemia 57 12 74 25 20 43 58 73 54 44 71
Alpha Thalassemia 12 20 43 29 6 15
Thalassemia, Alpha- 57 13
Alpha Thalassaemia 12 32
Alpha Plus Thalassemia 6
Thalassemias, Alpha- 57
Alpha^+^ Thalassemia 71
Thalassemia, Alpha 39
a-Thalassemia 20
Α-Thalassemia 43
Thalassemia 71
a-Thal 73

Characteristics:

Orphanet epidemiological data:

58
alpha-thalassemia
Inheritance: Autosomal recessive; Age of onset: All ages; Age of death: normal life expectancy;

Classifications:

Orphanet: 58  
Rare haematological diseases


External Ids:

Disease Ontology 12 DOID:1099
OMIM® 57 604131
ICD9CM 34 282.43
MeSH 44 D017085
NCIt 50 C34368
SNOMED-CT 67 191186002
ICD10 32 D56.0
MESH via Orphanet 45 D017085
ICD10 via Orphanet 33 D56.0
UMLS via Orphanet 72 C0002312 C1456873
Orphanet 58 ORPHA846
MedGen 41 C0002312
UMLS 71 C0002312 C0039730 C1456873

Summaries for Alpha-Thalassemia

MedlinePlus Genetics : 43 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.In people with the characteristic features of alpha thalassemia, a reduction in the amount of hemoglobin prevents enough oxygen from reaching the body's tissues. Affected individuals also have a shortage of red blood cells (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 hemoglobin Bart hydrops fetalis syndrome, which is also called Hb Bart syndrome or alpha thalassemia major. The milder form is called HbH disease.Hb Bart syndrome is characterized by hydrops fetalis, a condition in which excess fluid builds up in the body before birth. Additional signs and symptoms can include severe anemia, an enlarged liver and spleen (hepatosplenomegaly), heart defects, and abnormalities of the urinary system or genitalia. As a result of these serious health problems, most babies with this condition are stillborn or die soon after birth. Hb Bart syndrome can also cause serious complications for women during pregnancy, including dangerously high blood pressure with swelling (preeclampsia), premature delivery, and abnormal bleeding.HbH disease causes mild to moderate anemia, hepatosplenomegaly, and yellowing of the eyes and skin (jaundice). Some affected individuals also have bone changes such as overgrowth of the upper jaw and an unusually prominent forehead. The features of HbH disease usually appear in early childhood, and affected individuals typically live into adulthood.

MalaCards based summary : Alpha-Thalassemia, also known as alpha thalassemia, is related to alpha-thalassemia/mental retardation syndrome, x-linked and hemoglobin h disease, 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 Metformin and Peginterferon alfa-2b have been mentioned in the context of this disorder. Affiliated tissues include bone, liver and bone marrow, and related phenotypes are microcytic anemia and abnormal hemoglobin

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

GARD : 20 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.

UniProtKB/Swiss-Prot : 73 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).

Wikipedia : 74 Alpha-thalassemia (α-thalassemia, α-thalassaemia) is a form of thalassemia involving the genes HBA1 and... more...

More information from OMIM: 604131
GeneReviews: NBK1435

Related Diseases for Alpha-Thalassemia

Diseases in the Thalassemia family:

Alpha-Thalassemia Beta-Thalassemia
Autosomal Dominant Beta Thalassemia Beta-Thalassemia and Related Diseases
Alpha-Thalassemia and Related Diseases

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

(show top 50) (show all 222)
# Related Disease Score Top Affiliating Genes
1 alpha-thalassemia/mental retardation syndrome, x-linked 33.6 HELLS DAXX ATRX
2 hemoglobin h disease 33.4 TFRC LOC106804613 LOC106804612 KLF1 HBZ HBQ1
3 alpha-thalassemia/mental retardation syndrome, chromosome 16-related 33.4 HBA2 HBA1
4 alpha thalassemia-intellectual disability syndrome type 1 33.4 HBQ1 HBA2 HBA1 ATRX
5 alpha thalassemia-x-linked intellectual disability syndrome 33.4 DAXX ATRX
6 thalassemia 33.1 LOC110006319 LOC106804613 LOC106804612 LOC106099062 HBG1 HBD
7 hydrops fetalis, nonimmune 32.3 HBA2 HBA1
8 beta-thalassemia 31.8 UGT1A1 TFRC LOC110006319 LOC106099062 KLF1 HBG2
9 sickle cell anemia 31.8 UGT1A1 LOC110006319 LOC106099062 HBG2 HBG1 HBB
10 deficiency anemia 31.7 TFRC LOC106099062 KLF1 HBG2 HBG1 HBB
11 hemoglobinopathy 31.7 UGT1A1 TFRC LOC110006319 LOC106099062 KLF1 HBZ
12 sickle cell disease 31.6 UGT1A1 TFRC LOC110006319 LOC106099062 HBG2 HBG1
13 iron metabolism disease 31.6 TFRC HBB G6PD
14 microcytic anemia 31.4 TFRC HBB HBA2 HBA1 G6PD
15 hemoglobin e disease 31.4 LOC106099062 KLF1 HBQ1 HBD HBB
16 hypochromic microcytic anemia 31.4 TFRC HBB HBA2 HBA1
17 hemolytic anemia 31.4 UGT1A1 TFRC LOC106099062 KLF1 HBG2 HBG1
18 thalassemia minor 31.3 UGT1A1 KLF1 HBB HBA2
19 iron deficiency anemia 31.2 TFRC HBG2 HBA1 G6PD
20 malaria 31.2 TFRC LOC110006319 LOC106099062 HBB HBA2 HBA1
21 beta-thalassemia major 31.2 LOC110006319 LOC106099062 HBB
22 glucosephosphate dehydrogenase deficiency 31.1 UGT1A1 HBG2 HBB G6PD
23 bilirubin metabolic disorder 30.9 UGT1A1 HBG2 G6PD
24 acute erythroid leukemia 30.9 KLF1 HBG1 HBB
25 hereditary spherocytosis 30.8 UGT1A1 TFRC KLF1 HBG2 HBG1 HBB
26 beta-thalassemia intermedia 30.8 LOC110006319 LOC106099062 HBB
27 hemoglobin d disease 30.7 LOC110006319 HBQ1 HBD HBB
28 hemoglobin c disease 30.6 LOC106099062 HBD HBB
29 hemoglobin zurich 30.6 LOC106804612 LOC106099062 HBB HBA2
30 methemoglobinemia 30.5 LOC106099062 HBG2 HBB G6PD
31 histiocytosis-lymphadenopathy plus syndrome 30.5 HBQ1 HBB HBA2
32 fetal hemoglobin quantitative trait locus 1 30.5 LOC110006319 LOC106099062 HBG2 HBG1 HBD HBB
33 immune hydrops fetalis 30.5 HBA2 HBA1
34 hemoglobin se disease 30.4 LOC110006319 LOC106099062 HBB
35 hereditary elliptocytosis 30.4 HBQ1 HBB G6PD
36 congenital hemolytic anemia 30.3 KLF1 HBQ1 HBG2 HBG1 HBD HBB
37 neonatal anemia 30.3 KLF1 HBA2
38 alpha-thalassemia myelodysplasia syndrome 11.7
39 alpha-thalassemia and related diseases 11.3
40 alpha-thalassemia-abnormal morphogenesis 11.3
41 mental retardation-hypotonic facies syndrome, x-linked, 1 11.2
42 erythrocytosis, familial, 7 10.6 LOC106804613 LOC106804612 HBA2 HBA1
43 glutathione peroxidase deficiency 10.6 HBB HBA2 HBA1
44 methemoglobinemia, beta-globin type 10.6 LOC110006319 LOC106099062 HBB HBA2 HBA1
45 methemoglobinemia, beta type 10.6 LOC110006319 LOC106099062 HBB
46 beta-thalassemia, dominant inclusion body type 10.6 LOC110006319 LOC106099062 HBB
47 hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome 10.6 KLF1 HBG2 HBG1 HBB
48 hemoglobin e-beta-thalassemia syndrome 10.6 LOC106099062 HBB
49 heinz body anemias 10.6 LOC110006319 LOC106804613 LOC106099062 HBZ HBQ1 HBB
50 hemoglobin lepore-beta-thalassemia syndrome 10.5 HBD HBB

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:

58 31 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 microcytic anemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001935
2 abnormal hemoglobin 58 31 hallmark (90%) Very frequent (99-80%) HP:0011902
3 splenomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001744
4 cognitive impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0100543
5 hydrops fetalis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001789
6 cholelithiasis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001081
7 jaundice 58 31 occasional (7.5%) Occasional (29-5%) HP:0000952
8 hemolytic anemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001878
9 hypersplenism 58 31 occasional (7.5%) Occasional (29-5%) HP:0001971
10 myelodysplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002863
11 abnormality of immune system physiology 58 31 occasional (7.5%) Occasional (29-5%) HP:0010978
12 anemia 58 Occasional (29-5%)
13 hypochromic microcytic anemia 31 HP:0004840
14 reduced alpha/beta synthesis ratio 31 HP:0011907

Clinical features from OMIM®:

604131 (Updated 05-Mar-2021)

UMLS symptoms related to Alpha-Thalassemia:


angina pectoris, chest pain, edema

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance GR00327-A 8.92 DAXX G6PD HBD HBG2

Drugs & Therapeutics for Alpha-Thalassemia

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

(show top 50) (show all 224)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Metformin Approved Phase 4 657-24-9 14219 4091
2
Peginterferon alfa-2b Approved Phase 4 215647-85-1, 99210-65-8
3
Deferiprone Approved Phase 4 30652-11-0 2972
4
Zinc sulfate Approved, Investigational Phase 4 7733-02-0
5
Zinc Approved, Investigational Phase 4 7440-66-6 32051
6
Deferoxamine Approved, Investigational Phase 4 70-51-9 2973
7
Velpatasvir Approved, Investigational Phase 4 1377049-84-7 67683363
8
Hyaluronic acid Approved, Vet_approved Phase 4 9004-61-9 53477741
9
Peginterferon alfa-2a Approved, Investigational Phase 4 198153-51-4 5360545
10
Ribavirin Approved Phase 4 36791-04-5 37542
11
Methotrexate Approved Phase 4 1959-05-2, 59-05-2 126941
12
Basiliximab Approved, Investigational Phase 4 179045-86-4, 152923-56-3
13
Vitamin D3 Approved, Nutraceutical Phase 4 67-97-0 6221 5280795
14
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
15
Ergocalciferol Approved, Nutraceutical Phase 4 50-14-6 5280793
16
Calcifediol Approved, Nutraceutical Phase 4 19356-17-3 6433735 5283731
17 Hypoglycemic Agents Phase 4
18 Interferon alpha-2 Phase 4
19 Hormones Phase 4
20 Vitamins Phase 4
21 Calcium, Dietary Phase 4
22 Nutrients Phase 4
23 Micronutrients Phase 4
24 Trace Elements Phase 4
25 Calciferol Phase 4
26 Heptavalent Pneumococcal Conjugate Vaccine Phase 4
27 interferons Phase 4
28 Interferon-alpha Phase 4
29 Vitamin D2 Phase 4
30 Ergocalciferols Phase 4
31 Hydroxycholecalciferols Phase 4
32 Dermatologic Agents Phase 4
33 Phosphodiesterase Inhibitors Phase 4
34 Phosphodiesterase 5 Inhibitors Phase 4
35 Sildenafil Citrate Phase 4 171599-83-0
36 Vasodilator Agents Phase 4
37 Folic Acid Antagonists Phase 4
38 Cyclosporins Phase 4
39
Calcium Nutraceutical Phase 4 7440-70-2 271
40
Arginine Investigational, Nutraceutical Phase 4 74-79-3 6322
41
Sevoflurane Approved, Vet_approved Phase 2, Phase 3 28523-86-6 5206
42
Rocuronium Approved Phase 2, Phase 3 119302-91-9, 143558-00-3 441290
43
Propofol Approved, Investigational, Vet_approved Phase 2, Phase 3 2078-54-8 4943
44 Orange Approved Phase 3
45
Lenograstim Approved, Investigational Phase 2, Phase 3 135968-09-1
46
Sargramostim Approved, Investigational Phase 2, Phase 3 123774-72-1, 83869-56-1
47
Amlodipine Approved Phase 2, Phase 3 88150-42-9 2162
48
Metoprolol Approved, Investigational Phase 2, Phase 3 51384-51-1, 37350-58-6 4171
49
Ethanol Approved Phase 3 64-17-5 702
50
Vidarabine Approved, Investigational Phase 2, Phase 3 24356-66-9 32326 21704

Interventional clinical trials:

(show top 50) (show all 326)
# Name Status NCT ID Phase Drugs
1 The Effect of Vitamin D Supplementation on Calcium Excretion in Thalassemia: a Dose Response Study Unknown status NCT01323608 Phase 4 Vitamin D3;Placebo
2 A Randomized, Placebo Controlled, Double Blind Trial of the Effect of Combined Therapy With Deferoxamine and Deferiprone on Myocardial Iron in Thalassemia Major Using Cardiovascular Magnetic Resonance Unknown status NCT00103753 Phase 4 deferiprone
3 Efficacy of Basiliximab in the Prevention of Acute Graft-versus-host Disease in Unrelated Allogeneic Hematopoietic Stem Cell Transplantation Therapy for Thalassemia Major Treatment: a Multi-center, Open, Randomized, Controlled Clinical Study Unknown status NCT02342145 Phase 4 Basiliximab,;cyclosporine A;Methotrexate;Mycophenolate mofetil
4 The Potential Hepatoprotective Effect of Metformin in Patients With Beta Thalasemia Major Unknown status NCT02984475 Phase 4 Metformin
5 Study of the B Memory Cell Response to Vaccination With the 13-valent Pneumococcal Conjugate Vaccine in Asplenic Individuals With Beta-thalassemia Major Unknown status NCT01846923 Phase 4
6 Investigation of Signal Pathway Induced by Colla Corri Asini Regulating Globin Level in Beta Thalassemia Patients With Pregnancy Anemia Unknown status NCT03392298 Phase 4 Colla corii asini
7 A Multi-center Randomized, Double-blind, Placebo-controlled Study of Colla Corii Asini for the Treatment of Anemia in Pregnant Women With Thalassemia(Presenting the Syndrome of Blood Deficiency) Unknown status NCT03374111 Phase 4 Colla corii asini;a Simulate Agent of Colla corii asini granule
8 Phase IV Study of Effectiveness of Interferon and Ribavirin Treatment in Thalassemia Major Patients With Chronic Viral Hepatitis C Unknown status NCT00887081 Phase 4 PEG-IFN alpha2a or PEG-IFN alpha2b and Ribavirin
9 Evaluation of Efficacy of Zoledronic Acid in Patients With Haemoglobin Syndromes (Thalassemia and Sicle Cell Anaemia) and Risk of Skeletal Events Completed NCT00346242 Phase 4 Zoledronic Acid
10 Safety and Efficacy of Early-start Deferiprone Treatment in Infants and Young Children Newly Diagnosed With Transfusion-dependent Beta Thalassemia Completed NCT03591575 Phase 4 Deferiprone oral solution;Placebo
11 Zinc Supplementation on Cellular Immunity in Thalassemia Major Completed NCT03117192 Phase 4 Zinc Sulfate;Sucrose Syrup
12 An Epidemiological Study to Assess the Prevalence of Iron Overload Using MRI in Patients With Transfusional Siderosis (TIMES Study) Completed NCT01736540 Phase 4
13 Sofosbuvir/Ledipasvir for Hepatitis C Genotype 1-6 in Patients With Transfusion-Dependent Thalassemia: An Open Label Trial Completed NCT03032666 Phase 4 sofosbuvir/velpatasvir
14 Phase IV Study of the Use of Sequential DFP-DFO Versus DFP in Thalassemia Major Patients Completed NCT00733811 Phase 4 Deferiprone (DFP) and Deferoxamine (DFO);Deferiprone (DFP)
15 1-year Extension to CICL670A2402 an Open-label, Multi-center Trial of the Efficacy and Safety of Long-term Treatment With Deferasirox (10 to 20 mg/kg/Day) in Beta-thalassemia Patients With Transfusional Hemosiderosis (Study Amended to 2- Year Duration) Completed NCT00171301 Phase 4 Deferasirox
16 Randomized Trial Comparing the Relative Efficacy of Deferiprone to That of Deferoxamine in Removing Excess Cardiac Iron in Thalassemia Major Patients Completed NCT00105495 Phase 4 Ferriprox (deferiprone);Desferal (deferoxamine)
17 Evaluation of Liver Fibrosis by Serum Hyalornic Acid Measurement in β-Thalassemic Children Infected With Hepatitis C Virus Before and After Direct-Acting Antiviral Therapy Completed NCT03961828 Phase 4 Ledipasvir 90 MG / Sofosbuvir 400 MG [Harvoni]
18 A Phase II, Multi-center, Single-arm, Prospective Study to Evaluate the Safety and Efficacy of Deferasirox in Beta-thalassemia Major Patients After Hematopoietic Stem Cell Transplantation. Completed NCT01610297 Phase 4 ICL670
19 Pneumococcal Vaccination for Splenectomised Thalassemia Major Patients in Indonesia Completed NCT03095326 Phase 4 Sucrose
20 Increased Survival and Reversion of Iron-Induced Cardiac Disease in Patients With Thalassemia Major Receiving Intensive Combined Chelation Therapy Completed NCT00800761 Phase 4 Deferoxamine and Deferiprone;Deferoxamine
21 Safety of Deferasirox (ICL670) and Deferoxamine (Desferal or DFO) Combined Chelation Therapy in Patients With Transfusion Dependent Thalassemia and Iron Overload Completed NCT00901199 Phase 4 Combo Chelation with Deferasirox (Exjade) and Desferal (DFO)
22 An Open Label, Multi-center, Efficacy and Safety Study of Deferasirox in Iron Overloaded Patients With Non-transfusion Dependent Thalassemia Completed NCT01709838 Phase 4 deferasirox
23 1 Year, Open-label Multicenter Evaluation of Efficacy, Safety of Deferasirox in Patients MDS, Thalassemia and Rare Anemia Types Having Transfusion-induced Iron Overload. Completed NCT01250951 Phase 4 Deferasirox
24 Pilot Pharmacokinetic Study In Patients With Inadequate Response To Deferasirox (Exjade) Completed NCT00749515 Phase 4 Deferoxamine;Deferasirox
25 Evaluating the Efficacy of Deferasirox in Transfusion Dependent Chronic Anaemias (Myelodysplastic Syndrome, Beta-thalassaemia Patients) With Chronic Iron Overload Completed NCT00564941 Phase 4 deferasirox
26 A Study on PEGASYS® (Peginterferon Alfa-2a (40KD)) Plus COPEGUS® (Ribavirin) in Iranian Thalassemic Patients With Chronic Hepatitis C Infection Completed NCT00707850 Phase 4 PEGASYS® (Peginterferon Alfa-2a (40KD)) Plus COPEGUS® (Ribavirin)
27 A Randomized Phase IV Control Trial of Single High Dose Oral Vitamin D3 (Stoss Therapy) in Pediatric Patients Undergoing HSCT to Prevent Vitamin D Deficiency and Insufficiency During Transplant Completed NCT03176849 Phase 4
28 Comparative Clinical Study Evaluating the Effect of L-arginine Versus Sildenafil in Children With Beta Thalassemia Associated With Pulmonary Hypertension Recruiting NCT03402191 Phase 4 L-arginine;Sildenafil
29 Hematopoietic Stem Cell Transplantation for Patients With Thalassemia Major: A Multicenter, Prospective Clinical Study Recruiting NCT04009525 Phase 4 Busulfan;Cyclophosphamide;Fludarabine;Thymoglobulin;cyclosporine A;Mycophenolate mofetil;Tacrolimus;Methotrexate;Basiliximab;Ruxolitinib
30 Haploidentical Hematopoietic Stem Cell Transplantation for Patients With Thalassemia Major Recruiting NCT03171831 Phase 4 Busulfan;Cyclophosphamide;Fludarabine;Mycophenolate mofetil;Tacrolimus;Methotrexate;Thymoglobulin;Basiliximab
31 Prospective Crossover Study on Beta(ß)-Thalassaemia Transfusion-dependent to Evaluate the Impact on Transfusion Regimen of Two Pre-storage Leukoreduced PRBCs(In-line Filtration + B-C Separation; Whole Blood Filtration + B-C Conservation) Enrolling by invitation NCT03992001 Phase 4
32 An Open Label Study to Evaluate the Pharmacokinetics, Safety, Tolerability and Efficacy of Deferasirox Administered to Chinese Patients With β-thalassemia Major Aged From 2 to Less Than 6 Years Old Withdrawn NCT01724138 Phase 4 Deferasirox
33 A Multicenter, Open-label, Single Arm, Interventional Phase IV Study, to Evaluate the Effect of Deferasirox on Endocrine Complications in Subjects With Transfusion Dependent Thalassemia Withdrawn NCT02069886 Phase 4 deferasirox
34 A Decisional Algorithm to Start Iron Chelation in Minimally Transfused Young Beta-thalassemia Major Patients Naive to Iron Chelation Therapy. A Comparative Randomized Prospective Study Unknown status NCT02173951 Phase 2, Phase 3 Deferiprone
35 Zoledronic Acid for the Prevention of Bone Loss Post-bone Marrow Transplantation for Thalassemia Major Patients: A Prospective Pilot Study Unknown status NCT01016093 Phase 2, Phase 3 Zoledronic acid;Placebo
36 A Prospective Randomized Comparative Study of Efficacy and Safety of Combined Deferiprone (DFP) and Deferasirox Versus DFP and Desferrioxamine (DFO) Therapy in Diseases With Severe Iron Overload Unknown status NCT01511848 Phase 2, Phase 3 DFP (ferriprox) and deferasirox (ICL 670);DFP, DFO
37 Phase 2 Study of Therapeutic Effect and Safety of Combined Hydroxyurea With Recombinant Human Erythropoietin. Unknown status NCT01624038 Phase 2, Phase 3 Hydroxyurea ,Epiao;hydroxyurea, blood transfusion
38 Combined Therapy of Silymarin and Desferrioxamine in Patients With B-thalassemia Major: a Randomized Double-blind Clinical Trial Unknown status NCT00999349 Phase 2, Phase 3 Silymarin (LEGALON);Placebo
39 Study of Safty and Efficacy of Adjuvant Vitamin c in Augmenting Iron Chelation Unknown status NCT02083575 Phase 2, Phase 3 Vitamin C, Defriprone, deferisarox;deferiprone , deferesarox
40 Efficacy and Safety Study of Sugammadex in Children 0-2 Years Old Unknown status NCT03728543 Phase 2, Phase 3 Sugammadex
41 Effect of L-type Calcium Channel Blocker (Amlodipine) on Myocardial Iron Deposition in Thalassemic Patients With Moderate to Severe Myocardial Iron Deposition: A Randomized Pilot Study Completed NCT02065492 Phase 2, Phase 3 Standard Chelation;Amlodipine
42 Amlodipine in the Prevention and Treatment of Iron Overload in Patients With Thalassemia Major: a Randomized, Controlled Trial Completed NCT01395199 Phase 3 Amlodipine
43 An Extension Study of Iron Chelation Therapy With Deferasirox (ICL670)in β-thalassemia Patients With Transfusional Iron Overload Completed NCT00171210 Phase 3 Deferasirox
44 A Randomized Controlled Study to Evaluate Efficacy and Safety of S 303 Treated Red Blood Cells (RBC) in Subjects With Thalassemia Major Requiring Chronic RBC Transfusion Completed NCT01740531 Phase 3
45 A Randomized, Comparative, Open Label Phase III Trial on Efficacy & Safety of Long-term Treatment With ICL670 Compared to Deferoxamine in Beta-thalassemia Patients With Transfusional Hemosiderosis Completed NCT00061750 Phase 3 ICL670;deferoxamine
46 A Study of Efficacy and Safety of Long-term Treatment With Deferasirox in Patients With Beta-thalassemia and Transfusional Hemosiderosis Completed NCT00171171 Phase 3 deferasirox
47 Amlodipine Use in the Prevention and Treatment of Iron Overload in Patients With Thalassemia Major Completed NCT01125254 Phase 2, Phase 3 Amlodipine
48 Effect of Zinc Supplementation on Glucose Homeostasis in Patients With β-Thalassemia Major Complicated With Diabetes Mellitus Completed NCT03851055 Phase 3 Zinc
49 Impact of Combination Therapy Between Hydroxy Urea, Omega 3, Nigella Sativa and Honey on Antioxidant-oxidant Status and Reduction of Iron Overload in Pediatric Major Thalassemia Completed NCT04292314 Phase 2, Phase 3 Omega 3;Nigella Sativa Oil;Hydroxyurea;Honey;Deferoxamine
50 The Effect of Metoprolol Succinate on the Cardiac Function of Patients With Thalassemia Cardiomyopathy a Double Blind Randomized Study Completed NCT01863173 Phase 2, Phase 3 metoprolol;placebo

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:

40
Bone, Liver, Bone Marrow, Spleen, T Cells, Kidney, Whole Blood

Publications for Alpha-Thalassemia

Articles related to Alpha-Thalassemia:

(show top 50) (show all 1905)
# Title Authors PMID Year
1
Three new alpha-thalassemia point mutations ascertained through newborn screening. 6 61
16798638 2006
2
A novel alpha-thalassemia nonsense mutation in codon 23 of the alpha2-globin gene (GAG-->TAG) in a Tunisian family. 6 61
15481894 2004
3
An alpha-thalassemia phenotype in a Dutch Hindustani, caused by a new point mutation that creates an alternative splice donor site in the first exon of the alpha2-globin gene. 61 6
15481895 2004
4
A new Hb evanston allele [alpha14(A12)Trp --> Arg] found solely, and in the presence of common alpha-thalassemia deletions, in three independent Asian cases. 61 6
15008259 2004
5
A new highly unstable alpha chain variant causing alpha(+)-thalassemia: Hb Zurich Albisrieden [alpha59(E8)Gly-->Arg (alpha2)]. 61 6
15658192 2004
6
Identification of two new alpha-thalassemia mutations in exon 2 of the alpha1-globin gene. 6 61
11791872 2001
7
Hydrops fetalis caused by alpha-thalassemia: an emerging health care problem. 57 61
9516118 1998
8
Nondeletional alpha-thalassemia: first description of alpha Hph alpha and alpha Nco alpha mutations in a Spanish population. 61 6
8756078 1996
9
Molecular basis for nondeletion alpha-thalassemia in American blacks. Alpha 2(116GAG----UAG). 61 6
3597771 1987
10
Initiation codon mutation as a cause of alpha thalassemia. 6 61
6490612 1984
11
Hemoglobin Evanston (alpha 14 Trp----Arg). An unstable alpha-chain variant expressed as alpha-thalassemia. 6 61
6725558 1984
12
Hemoglobin Evanston: alpha 14(A12) Trp leads to Arg. A variant hemoglobin associated with alpha-thalassemia-2. 6 61
6882779 1983
13
Variability in State-Based Recommendations for Management of Alpha Thalassemia Trait and Silent Carrier Detected on the Newborn Screen. 25 61
29273175 2018
14
The incidental detection of alpha thalassemia. 25 61
29576180 2018
15
Novel large deletions in the human alpha-globin gene cluster: Clarifying the HS-40 long-range regulatory role in the native chromosome environment. 25 61
20580289 2010
16
Phenotype-genotype characterization of alpha-thalassemia mental retardation syndrome due to isolated monosomy of 16p13.3. 25 61
18076105 2008
17
Refinement of the genetic cause of ATR-16. 61 25
17598130 2007
18
A regulatory SNP causes a human genetic disease by creating a new transcriptional promoter. 61 25
16728641 2006
19
Acquired alpha-thalassemia in association with myelodysplastic syndrome and other hematologic malignancies. 25 61
15358626 2005
20
Acquired somatic ATRX mutations in myelodysplastic syndrome associated with alpha thalassemia (ATMDS) convey a more severe hematologic phenotype than germline ATRX mutations. 25 61
14592816 2004
21
Deletion of the alpha-globin gene cluster as a cause of acquired alpha-thalassemia in myelodysplastic syndrome. 61 25
14576055 2004
22
Identification of acquired somatic mutations in the gene encoding chromatin-remodeling factor ATRX in the alpha-thalassemia myelodysplasia syndrome (ATMDS). 25 61
12858175 2003
23
The Dutch IVS-I-116 (A --> G) (alpha2) thalassemia mutation induces Hb H inclusion bodies when found in combination with the -alpha3.7 deletion defect. 6
12603095 2003
24
Phenotype-genotype relationships in monogenic disease: lessons from the thalassaemias. 57
11283697 2001
25
De novo 16p deletion: ATR-16 syndrome. 25 61
9375730 1997
26
An IVS1-116 (A-->G) acceptor splice site mutation in the alpha 2 globin gene causing alpha + thalassaemia in two Dutch families. 6
8943885 1996
27
alpha-Thalassaemia. 57
8353312 1993
28
HbH disease in Sardinia: molecular, hematological and clinical aspects. 61 25
1414154 1992
29
Molecular basis of α-thalassemia. 25
29032940 2018
30
Molecular Basis and Genetic Modifiers of Thalassemia. 25
29458725 2018
31
Next-generation sequencing as a tool for breakpoint analysis in rearrangements of the globin gene clusters. 25
28447426 2017
32
An international registry of survivors with Hb Bart's hydrops fetalis syndrome. 25
28057638 2017
33
A novel selective deletion of the major α-globin regulatory element (MCS-R2) causing α-thalassaemia. 25
26915575 2017
34
Homozygous α-thalassemia: Challenges surrounding early identification, treatment, and cure. 25
27573913 2017
35
Caring for Glucose-6-Phosphate Dehydrogenase (G6PD)-Deficient Patients: Implications for Pharmacy. 25
26417175 2015
36
The α-thalassemias. 25
25390741 2014
37
The molecular basis of α-thalassemia. 25
23284078 2013
38
α-Thalassemia, mental retardation, and myelodysplastic syndrome. 25
23028133 2012
39
Deferasirox reduces iron overload significantly in nontransfusion-dependent thalassemia: 1-year results from a prospective, randomized, double-blind, placebo-controlled study. 25
22589472 2012
40
Iron overload in non-transfusion-dependent thalassemia: a clinical perspective. 25
22631036 2012
41
Development and clinical implementation of a combination deletion PCR and multiplex ligation-dependent probe amplification assay for detecting deletions involving the human α-globin gene cluster. 25
21708285 2011
42
Homozygous deletion of the major alpha-globin regulatory element (MCS-R2) responsible for a severe case of hemoglobin H disease. 25
20864588 2010
43
The molecular basis of beta-thalassemia intermedia in southern China: genotypic heterogeneity and phenotypic diversity. 54 61
20181291 2010
44
Molecular characterization of alpha-Thalassemia in Adana, Turkey: A single center study. 61 54
20332613 2010
45
Diagnostic value of zinc protoporphyrin in a screening strategy for alpha-thalassemia. 54 61
19187279 2009
46
Clinical and hematological phenotype of homozygous hemoglobin E: revisit of a benign condition with hidden reproductive risk. 54 61
19323016 2009
47
G6PD deficiency, absence of alpha-thalassemia, and hemolytic rate at baseline are significant independent risk factors for abnormally high cerebral velocities in patients with sickle cell anemia. 61 54
18772456 2008
48
Response to hydroxyurea therapy in beta-thalassemia. 61 54
18181203 2008
49
A multicenter trial of the effectiveness of zeta-globin enzyme-linked immunosorbent assay and hemoglobin H inclusion body screening for the detection of alpha0-thalassemia trait. 61 54
18208812 2008
50
A rare thalassemic syndrome caused by interaction of Hb Adana [alpha59(E8)Gly-->Asp] with an alpha+-thalassemia deletion: clinical aspects in two cases. 61 54
18654886 2008

Variations for Alpha-Thalassemia

ClinVar genetic disease variations for Alpha-Thalassemia:

6 (show top 50) (show all 97)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 HBA1 HBA1, 21-BP INS-DUP Duplication Pathogenic 15879
2 HBA1 HBA1, 33-BP DEL Deletion Pathogenic 15880
3 HBA1 HBA1, 1-BP DEL, 354C Deletion Pathogenic 15892
4 HBA2 Deletion Pathogenic 375752
5 LOC106804613 NC_000016.10:g.(168531_169756)_(182770_183028)del Deletion Pathogenic 869332 16:168531-183028
6 LOC106804613 NC_000016.10:g.(169756_170100)_(179044_181595)del Deletion Pathogenic 869333 16:169756-181595
7 HBA1 NC_000016.10:g.151479_182582del Deletion Pathogenic 869337
8 HBA1 NC_000016.10:g.158101_179001del Deletion Pathogenic 869215
9 HBA1 NC_000016.10:g.169197_259919delinsCACCCAGCACCCAGTACCA Indel Pathogenic 869216
10 HBA1 NC_000016.10:g.147601_179801del Deletion Pathogenic 869334
11 HBA1 NC_000016.10:g.147937_179144del Deletion Pathogenic 869335
12 HBA1 NC_000016.10:g.150002_180002del Deletion Pathogenic 869336
13 LOC106804613 NM_005332.2(HBZ):c.330_*22601del Deletion Pathogenic 38635 16:204300-227000 16:154301-177001
14 LOC106804613 Deletion Pathogenic 433555 16:172007-177537
15 HBA-LCR NC_000016.10:g.(?_151209)_(182142_?)del Deletion Pathogenic 487442 16:201208-232141 16:151209-182142
16 LOC106804613 NC_000016.10:g.(?_169780)_(182142_?)del Deletion Pathogenic 487448 16:219779-232141 16:169780-182142
17 HBA1 GRCh37/hg19 16p13.3(chr16:221962-228406) copy number loss Pathogenic 625828 16:221962-228406
18 HBA1 GRCh37/hg19 16p13.3(chr16:216075-231021) copy number loss Pathogenic 625829 16:216075-231021
19 LOC106804613 NM_005331.4(HBQ1):c.-16686_-286del Deletion Pathogenic 38633 16:213800-230200 16:163801-180201
20 LOC106804612 NM_000517.6(HBA2):c.349G>T (p.Glu117Ter) SNV Pathogenic 15644 rs33987053 16:223519-223519 16:173520-173520
21 LOC106804612 NM_000517.6(HBA2):c.96-2A>G SNV Pathogenic 15679 rs41457746 16:223122-223122 16:173123-173123
22 LOC106804612 NM_000517.6(HBA2):c.70G>T (p.Glu24Ter) SNV Pathogenic 15686 rs281864819 16:222981-222981 16:172982-172982
23 LOC106804612 NM_000517.6(HBA2):c.69C>T (p.Gly23=) SNV Pathogenic 15687 rs63751457 16:222980-222980 16:172981-172981
24 LOC106804612 NM_000517.6(HBA2):c.178G>C (p.Gly60Arg) SNV Pathogenic 15688 rs41328049 16:223206-223206 16:173207-173207
25 LOC106804613 NM_000558.5(HBA1):c.43T>Y (p.Trp15Xaa) SNV Pathogenic 15724 rs33964317 16:226758-226758 16:176759-176759
26 LOC106804612 NM_000517.4(HBA2):c.427T>C (p.Ter143Gln) SNV Pathogenic 15624 rs41464951 16:223597-223597 16:173598-173598
27 LOC106804612 NM_000517.6(HBA2):c.*94A>G SNV Pathogenic 375749 rs63751269 16:223693-223693 16:173694-173694
28 LOC106804612 NM_000517.6(HBA2):c.339C>G (p.His113Gln) SNV Pathogenic 375745 rs63750404 16:223509-223509 16:173510-173510
29 LOC106804612 NM_000517.6(HBA2):c.95+2_95+6del Deletion Pathogenic 375746 rs41474145 16:223004-223008 16:173005-173009
30 LOC106804612 NM_000517.6(HBA2):c.69del (p.Glu24fs) Deletion Pathogenic 439123 rs1270810159 16:222980-222980 16:172981-172981
31 LOC106804613 NC_000016.10:g.171847_181556del Deletion Pathogenic 869217 16:221844-231553 16:171845-181554
32 LOC106804613 NC_000016.10:g.172001_181401del Deletion Pathogenic 869218 16:221999-231399 16:172000-181400
33 LOC110006319 NM_000518.5(HBB):c.316-106C>G SNV Pathogenic 15457 rs34690599 11:5247062-5247062 11:5225832-5225832
34 LOC106099062 NM_000518.5(HBB):c.315+1G>A SNV Pathogenic 15438 rs33945777 11:5247806-5247806 11:5226576-5226576
35 LOC106099062 NM_000518.5(HBB):c.92+1G>A SNV Pathogenic 15436 rs33971440 11:5248159-5248159 11:5226929-5226929
36 LOC106099062 NM_000518.5(HBB):c.52A>T (p.Lys18Ter) SNV Pathogenic 15401 rs33986703 11:5248200-5248200 11:5226970-5226970
37 HBB NM_000518.5(HBB):c.-137C>A SNV Pathogenic 36285 rs33941377 11:5248388-5248388 11:5227158-5227158
38 LOC106804612 NM_000517.6(HBA2):c.301-1G>A SNV Pathogenic 15668 rs587776827 16:223470-223470 16:173471-173471
39 LOC106804612 NM_000517.6(HBA2):c.329T>G (p.Leu110Arg) SNV Pathogenic 15632 rs41479844 16:223499-223499 16:173500-173500
40 LOC106804612 NM_000517.6(HBA2):c.377T>A (p.Leu126Gln) SNV Pathogenic 869221 16:223547-223547 16:173548-173548
41 LOC106804613 NM_000558.5(HBA1):c.396dup (p.Val133fs) Duplication Pathogenic 869325 16:227376-227377 16:177377-177378
42 LOC106804613 NM_000558.5(HBA1):c.43T>C (p.Trp15Arg) SNV Pathogenic 439103 rs33964317 16:226758-226758 16:176759-176759
43 LOC106804613 NM_000558.5(HBA1):c.92_93AG[1] (p.Arg32fs) Microsatellite Pathogenic 801167 rs1596573477 16:226806-226807 16:176807-176808
44 LOC106804613 NM_000558.5(HBA1):c.2T>G (p.Met1Arg) SNV Pathogenic 915293 16:226717-226717 16:176718-176718
45 LOC106099062 NG_000007.3:g.63632_71046del Deletion Pathogenic 15061 11:5247800-5255214 11:5226570-5233984
46 LOC106804612 NM_000517.6(HBA2):c.313T>C (p.Cys105Arg) SNV Pathogenic 804215 rs1263969213 16:223483-223483 16:173484-173484
47 LOC106804612 NM_000517.6(HBA2):c.60del (p.His21fs) Deletion Pathogenic 280127 rs886041399 16:222971-222971 16:172972-172972
48 LOC106804612 NM_000517.6(HBA2):c.75T>G (p.Tyr25Ter) SNV Pathogenic 618674 rs281864550 16:222986-222986 16:172987-172987
49 LOC106804612 NM_000517.6(HBA2):c.2T>C (p.Met1Thr) SNV Pathogenic 15643 rs111033603 16:222913-222913 16:172914-172914
50 LOC106804612 NM_000517.6(HBA2):c.92_93AG[1] (p.Arg32fs) Microsatellite Pathogenic 375744 rs1057519637 16:223002-223003 16:173003-173004

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 9.63 TFRC HBG2 HBD HBB HBA2 HBA1
2 haptoglobin-hemoglobin complex GO:0031838 9.56 HBZ HBQ1 HBG2 HBG1 HBD HBB
3 endocytic vesicle lumen GO:0071682 9.43 HBB HBA2 HBA1
4 pericentric heterochromatin GO:0005721 9.32 HELLS ATRX
5 hemoglobin complex GO:0005833 9.23 HBZ HBQ1 HBG2 HBG1 HBD HBB

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

# Name GO ID Score Top Affiliating Genes
1 cellular oxidant detoxification GO:0098869 9.76 HBZ HBQ1 HBG2 HBG1 HBD HBB
2 blood coagulation GO:0007596 9.73 HBG2 HBG1 HBD HBB
3 receptor-mediated endocytosis GO:0006898 9.62 TFRC HBB HBA2 HBA1
4 response to hydrogen peroxide GO:0042542 9.58 HBB HBA2 HBA1
5 hydrogen peroxide catabolic process GO:0042744 9.56 HBZ HBQ1 HBG2 HBG1 HBD HBB
6 positive regulation of cell death GO:0010942 9.54 HBB HBA2 HBA1
7 DNA methylation GO:0006306 9.46 HELLS ATRX
8 bicarbonate transport GO:0015701 9.43 HBB HBA2 HBA1
9 oxygen transport GO:0015671 9.23 HBZ HBQ1 HBG2 HBG1 HBD HBB

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

# Name GO ID Score Top Affiliating Genes
1 metal ion binding GO:0046872 10.16 KLF1 HBZ HBQ1 HBG2 HBG1 HBD
2 heme binding GO:0020037 9.97 HBZ HBQ1 HBG2 HBG1 HBD HBB
3 organic acid binding GO:0043177 9.92 HBZ HBQ1 HBG2 HBG1 HBD HBB
4 haptoglobin binding GO:0031720 9.86 HBZ HBQ1 HBG2 HBG1 HBD HBB
5 oxygen binding GO:0019825 9.76 HBZ HBQ1 HBG2 HBG1 HBD HBB
6 iron ion binding GO:0005506 9.73 HBZ HBQ1 HBA2 HBA1
7 hemoglobin alpha binding GO:0031721 9.71 HBG2 HBG1 HBD HBB
8 oxygen carrier activity GO:0005344 9.56 HBZ HBQ1 HBG2 HBG1 HBD HBB
9 peroxidase activity GO:0004601 9.23 HBZ HBQ1 HBG2 HBG1 HBD HBB

Sources for Alpha-Thalassemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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