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 75 24 53 25 59 74 55 44 72
Alpha Thalassemia 12 53 25 29 6 15
Thalassemia, Alpha- 57 13
Alpha Thalassaemia 12 33
Alpha Plus Thalassemia 6
Thalassemias, Alpha- 57
Alpha^+^ Thalassemia 72
Thalassemia, Alpha 40
a-Thalassemia 53
Α-Thalassemia 25
Thalassemia 72
a-Thal 74


Orphanet epidemiological data:

Inheritance: Autosomal recessive; Age of onset: All ages; Age of death: normal life expectancy;


External Ids:

Disease Ontology 12 DOID:1099
OMIM 57 604131
ICD9CM 35 282.43
MeSH 44 D017085
NCIt 50 C34368
SNOMED-CT 68 68913001
ICD10 33 D56.0
MESH via Orphanet 45 D017085
ICD10 via Orphanet 34 D56.0
UMLS via Orphanet 73 C0002312 C1456873
Orphanet 59 ORPHA846
MedGen 42 C0002312
UMLS 72 C0002312 C0039730 C1456873

Summaries for Alpha-Thalassemia

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

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

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.

UniProtKB/Swiss-Prot : 74 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 : 75 Alpha-thalassemia (?-thalassemia, ?-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
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 237)
# Related Disease Score Top Affiliating Genes
1 alpha-thalassemia/mental retardation syndrome, chromosome 16-related 35.6 HBA2 HBA1
2 alpha-thalassemia/mental retardation syndrome, x-linked 35.2 HELLS DAXX ATRX
3 alpha thalassemia-intellectual disability syndrome type 1 34.9 SOX8 HBB HBA2 HBA1 ATRX
4 hydrops fetalis, nonimmune 34.0 HBA2 HBA1
5 hemoglobin h disease 32.9 TFRC HBG2 HBB HBA2 HBA1 G6PD
6 hydrops fetalis 32.3 HBA2 HBA1
7 hypochromic microcytic anemia 31.5 HBB HBA2
8 thalassemia 31.2 UGT1A1 TFRC LOC106804613 LOC106804612 HBZ HBG1
9 hemoglobin zurich 30.9 HBB HBA2
10 plasmodium falciparum malaria 30.8 HP HBB G6PD
11 bilirubin metabolic disorder 30.7 UGT1A1 HP G6PD
12 microcytic anemia 30.6 TFRC HBA2 HBA1 EPO
13 fetal hemoglobin quantitative trait locus 1 30.6 HBG2 HBG1 HBB
14 sickle cell disease 30.5 HBG2 HBG1 HBB HBA2 G6PD EPO
15 blood group incompatibility 30.5 KLF1 G6PD
16 glucosephosphate dehydrogenase deficiency 30.3 UGT1A1 HP HBG2 HBB G6PD
17 erythroleukemia, familial 30.1 KLF1 HBG1 HBB EPO
18 anemia, nonspherocytic hemolytic, due to g6pd deficiency 30.0 HP G6PD
19 methemoglobinemia 30.0 HP HBG2 HBB G6PD
20 sickle cell anemia 30.0 UGT1A1 HBG2 HBG1 HBB HBA2 HBA1
21 hemolytic anemia 29.8 HP HBG2 HBB HBA2 HBA1 G6PD
22 deficiency anemia 29.8 TFRC HP HBG2 HBB HBA2 G6PD
23 hemoglobinopathy 29.7 UGT1A1 KLF1 HP HBG1 HBB HBA2
24 hereditary spherocytosis 29.5 UGT1A1 TFRC KLF1 HBG1 HBB G6PD
25 malaria 29.4 TFRC HP HBB HBA2 HBA1 G6PD
26 beta-thalassemia 29.2 UGT1A1 TFRC KLF1 HBG2 HBG1 HBB
27 congenital hemolytic anemia 28.5 KLF1 HP HBG1 HBB HBA2 G6PD
28 alpha thalassemia-x-linked intellectual disability syndrome 13.1
29 alpha-thalassemia myelodysplasia syndrome 12.9
30 alpha-thalassemia-abnormal morphogenesis 12.6
31 alpha-thalassemia and related diseases 12.5
32 mental retardation-hypotonic facies syndrome, x-linked, 1 11.9
33 fetal edema 10.8
34 diabetes mellitus, insulin-dependent, 24 10.8 HBA2 HBA1
35 hypoglycemic coma 10.7 HBA2 HBA1
36 erythrocytosis, familial, 7 10.7 HBA2 HBA1
37 type 1 diabetes mellitus 7 10.6 HBA2 HBA1
38 methemoglobinemia, beta-globin type 10.6 HBB HBA2 HBA1
39 glutathione peroxidase deficiency 10.6 HBB HBA2 HBA1
40 type 1 diabetes mellitus 11 10.6 HBA2 HBA1
41 heinz body anemias 10.6 HBB HBA2 HBA1
42 acquired methemoglobinemia 10.6 HBG2 G6PD
43 gastric neuroendocrine neoplasm 10.6 DAXX ATRX
44 hemoglobinemia 10.6 HP HBB
45 iron metabolism disease 10.6
46 congenital methemoglobinemia 10.6 HBG2 G6PD
47 immature cataract 10.6 HBA2 HBA1
48 autosomal genetic disease 10.5 HBG1 HBB ATRX
49 blood protein disease 10.5 HBG2 HBG1 HBB
50 hemoglobin e disease 10.5

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:

59 32 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 microcytic anemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001935
2 abnormal hemoglobin 59 32 hallmark (90%) Very frequent (99-80%) HP:0011902
3 splenomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001744
4 cognitive impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0100543
5 hemolytic anemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001878
6 myelodysplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002863
7 hydrops fetalis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001789
8 cholelithiasis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001081
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

Clinical features from OMIM:


UMLS symptoms related to Alpha-Thalassemia:

angina pectoris, edema, chest pain

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

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

MGI Mouse Phenotypes related to Alpha-Thalassemia:

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

Drugs & Therapeutics for Alpha-Thalassemia

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

(show top 50) (show all 318)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Sulfadoxine Approved, Investigational Phase 4 2447-57-6 17134
Pyrimethamine Approved, Investigational, Vet_approved Phase 4 58-14-0 4993
Peginterferon alfa-2b Approved Phase 4 99210-65-8, 215647-85-1
Zinc Approved, Investigational Phase 4 7440-66-6 32051
Zinc sulfate Approved, Investigational Phase 4 7733-02-0
Peginterferon alfa-2a Approved, Investigational Phase 4 198153-51-4 5360545
Ribavirin Approved Phase 4 36791-04-5 37542
Hyaluronic acid Approved, Vet_approved Phase 4 9004-61-9 53477741
Sofosbuvir Approved Phase 4 1190307-88-0 45375808
Ledipasvir Approved Phase 4 1256388-51-8 67505836
Velpatasvir Approved, Investigational Phase 4 1377049-84-7 67683363
leucovorin Approved Phase 4 58-05-9 143 6006
Methotrexate Approved Phase 4 1959-05-2, 59-05-2 126941
Basiliximab Approved, Investigational Phase 4 152923-56-3, 179045-86-4
Metformin Approved Phase 4 657-24-9 4091 14219
Deferoxamine Approved, Investigational Phase 4 70-51-9 2973
Deferiprone Approved Phase 4 30652-11-0 2972
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
Calcium Approved, Nutraceutical Phase 4 7440-70-2 271
Vitamin D3 Approved, Nutraceutical Phase 4 67-97-0 6221 5280795
Ergocalciferol Approved, Nutraceutical Phase 4 50-14-6 5280793
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
Calcifediol Approved, Nutraceutical Phase 4 19356-17-3 6433735 5283731
Glycine Approved, Nutraceutical, Vet_approved Phase 4 56-40-6 750
25 Antiparasitic Agents Phase 4
26 Fanasil, pyrimethamine drug combination Phase 4
27 Antimalarials Phase 4
28 Antiprotozoal Agents Phase 4
29 Interferon alpha-2 Phase 4
30 Astringents Phase 4
31 Heptavalent Pneumococcal Conjugate Vaccine Phase 4
32 Interferon-alpha Phase 4
33 interferons Phase 4
34 Hematinics Phase 4
35 Sofosbuvir-velpatasvir drug combination Phase 4
36 Ledipasvir, sofosbuvir drug combination Phase 4
37 Folic Acid Antagonists Phase 4
38 Folate Phase 4
39 Vitamin B9 Phase 4
40 Vitamin B Complex Phase 4
41 Thymoglobulin Phase 4
42 Sildenafil Citrate Phase 4 171599-83-0
43 Siderophores Phase 4
44 Phosphodiesterase Inhibitors Phase 4
45 Phosphodiesterase 5 Inhibitors Phase 4
46 arginine Phase 4
47 Vasodilator Agents Phase 4
48 Hypoglycemic Agents Phase 4
49 Bone Density Conservation Agents Phase 4
50 Hormones Phase 4

Interventional clinical trials:

(show top 50) (show all 400)
# Name Status NCT ID Phase Drugs
1 Intermittent Treatment With Sulfadoxine-Pyrimethamine for Malaria Control in Children: A Randomised, Double Blind, and Placebo-Controlled Clinical Trial Unknown status NCT00168948 Phase 4 Sulfadoxin (12.5) Pyrimethamine (250 mg)
2 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
3 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
4 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
5 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
6 The Effect of Vitamin D Supplementation on Calcium Excretion in Thalassemia: a Dose Response Study Unknown status NCT01323608 Phase 4 Vitamin D3;Placebo
7 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)
8 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
9 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
10 Evaluating the Efficacy of Deferasirox in Transfusion Dependent Chronic Anaemias (Myelodysplastic Syndrome, Beta-thalassaemia Patients) With Chronic Iron Overload Completed NCT00564941 Phase 4 deferasirox
11 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
12 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)
13 An Open Label, Multi-center, Efficacy and Safety Study of Deferasirox in Iron Overloaded Patients With Non-transfusion Dependent Thalassemia Completed NCT01709838 Phase 4 ICL670 deferasirox
14 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
15 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)
16 Pneumococcal Vaccination for Splenectomised Thalassemia Major Patients in Indonesia Completed NCT03095326 Phase 4 Sucrose
17 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
18 Sofosbuvir/Ledipasvir for Hepatitis C Genotype 1-6 in Patients With Transfusion-Dependent Thalassemia: An Open Label Trial Completed NCT03032666 Phase 4 sofosbuvir/velpatasvir
19 Zinc Supplementation on Cellular Immunity in Thalassemia Major Completed NCT03117192 Phase 4 Zinc Sulfate;Sucrose Syrup
20 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)
21 Pilot Pharmacokinetic Study In Patients With Inadequate Response To Deferasirox (Exjade) Completed NCT00749515 Phase 4 Deferoxamine;Deferasirox
22 An Epidemiological Study to Assess the Prevalence of Iron Overload Using MRI in Patients With Transfusional Siderosis (TIMES Study) Completed NCT01736540 Phase 4
23 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]
24 Effect of Folic Acid Supplementation on Plasma Homocysteine Level in Obese Children: a Randomized Double Blinded Placebo Controlled Trial Completed NCT01766310 Phase 4 Folic Acid;placebo
25 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) Recruiting NCT03374111 Phase 4 Colla corii asini;a Simulate Agent of Colla corii asini granule
26 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
27 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
28 Haploidentical Hematopoietic Stem Cell Transplantation for Patients With Thalassemia Major Recruiting NCT03171831 Phase 4 Busulfan;Cyclophosphamide;Fludarabine;Mycophenolate mofetil;Tacrolimus;Methotrexate;Thymoglobulin;Basiliximab
29 Safety and Efficacy of Early-start Deferiprone Treatment in Infants and Young Children Newly Diagnosed With Transfusion-dependent Beta Thalassemia Recruiting NCT03591575 Phase 4 Deferiprone oral solution;Placebo
30 Investigation of Signal Pathway Induced by Colla Corri Asini Regulating Globin Level in Beta Thalassemia Patients With Pregnancy Anemia Recruiting NCT03392298 Phase 4 Colla corii asini
31 The Potential Hepatoprotective Effect of Metformin in Patients With Beta Thalasemia Major Recruiting NCT02984475 Phase 4 Metformin
32 The Efficacy and Safety of Ferriprox® for the Treatment of Transfusional Iron Overload in Patients With Sickle Cell Disease or Other Anemias Recruiting NCT02041299 Phase 4 Deferiprone;Deferoxamine
33 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
34 Long-term Safety and Efficacy Study of Ferriprox® for the Treatment of Transfusional Iron Overload in Patients With Sickle Cell Disease or Other Anemias Enrolling by invitation NCT02443545 Phase 4 Deferiprone
35 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 Enrolling by invitation NCT03176849 Phase 4
36 Is Iron Supplementation Harmful in Populations Where Iron Deficiency is Not the Cause of Anemia? A 12 Week RCT in Cambodia Not yet recruiting NCT04017598 Phase 4
37 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
38 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
39 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
40 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
41 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
42 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
43 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
44 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
45 Treatment of Wolfram Syndrome Type 2 With the Chelator Deferiprone, and Incretin Based Therapy Unknown status NCT02882477 Phase 2, Phase 3 Deferiprone;Acetylcysteine;Sitagliptin and Metformin
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 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
48 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
49 An Extension Study of Iron Chelation Therapy With Deferasirox (ICL670)in β-thalassemia Patients With Transfusional Iron Overload Completed NCT00171210 Phase 3 Deferasirox
50 Amlodipine in the Prevention and Treatment of Iron Overload in Patients With Thalassemia Major: a Randomized, Controlled Trial Completed NCT01395199 Phase 3 Amlodipine

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:

Bone, Liver, Heart, Bone Marrow, Skin, Testes, T Cells

Publications for Alpha-Thalassemia

Articles related to Alpha-Thalassemia:

(show top 50) (show all 1833)
# Title Authors PMID Year
Hydrops fetalis caused by alpha-thalassemia: an emerging health care problem. 38 4 8
9516118 1998
Three new alpha-thalassemia point mutations ascertained through newborn screening. 38 71
16798638 2006
Alpha-Thalassemia 38 71
20301608 2005
A novel alpha-thalassemia nonsense mutation in codon 23 of the alpha2-globin gene (GAG-->TAG) in a Tunisian family. 38 71
15481894 2004
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. 38 71
15481895 2004
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. 38 71
15008259 2004
A new highly unstable alpha chain variant causing alpha(+)-thalassemia: Hb Zurich Albisrieden [alpha59(E8)Gly-->Arg (alpha2)]. 38 71
15658192 2004
Transcription of antisense RNA leading to gene silencing and methylation as a novel cause of human genetic disease. 9 38 4
12730694 2003
Identification of two new alpha-thalassemia mutations in exon 2 of the alpha1-globin gene. 38 71
11791872 2001
Nondeletional alpha-thalassemia: first description of alpha Hph alpha and alpha Nco alpha mutations in a Spanish population. 38 71
8756078 1996
Molecular basis for nondeletion alpha-thalassemia in American blacks. Alpha 2(116GAG----UAG). 38 71
3597771 1987
Initiation codon mutation as a cause of alpha thalassemia. 38 71
6490612 1984
Hemoglobin Evanston (alpha 14 Trp----Arg). An unstable alpha-chain variant expressed as alpha-thalassemia. 38 71
6725558 1984
Hemoglobin Evanston: alpha 14(A12) Trp leads to Arg. A variant hemoglobin associated with alpha-thalassemia-2. 38 71
6882779 1983
EMQN Best Practice Guidelines for molecular and haematology methods for carrier identification and prenatal diagnosis of the haemoglobinopathies. 71
25052315 2015
Novel large deletions in the human alpha-globin gene cluster: Clarifying the HS-40 long-range regulatory role in the native chromosome environment. 38 4
20580289 2010
Hb H disease: clinical course and disease modifiers. 38 4
20008179 2009
Phenotype-genotype characterization of alpha-thalassemia mental retardation syndrome due to isolated monosomy of 16p13.3. 38 4
18076105 2008
Refinement of the genetic cause of ATR-16. 38 4
17598130 2007
A regulatory SNP causes a human genetic disease by creating a new transcriptional promoter. 38 4
16728641 2006
Acquired alpha-thalassemia in association with myelodysplastic syndrome and other hematologic malignancies. 38 4
15358626 2005
Acquired somatic ATRX mutations in myelodysplastic syndrome associated with alpha thalassemia (ATMDS) convey a more severe hematologic phenotype than germline ATRX mutations. 38 4
14592816 2004
Deletion of the alpha-globin gene cluster as a cause of acquired alpha-thalassemia in myelodysplastic syndrome. 38 4
14576055 2004
Identification of acquired somatic mutations in the gene encoding chromatin-remodeling factor ATRX in the alpha-thalassemia myelodysplasia syndrome (ATMDS). 38 4
12858175 2003
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. 71
12603095 2003
Phenotype-genotype relationships in monogenic disease: lessons from the thalassaemias. 8
11283697 2001
De novo 16p deletion: ATR-16 syndrome. 38 4
9375730 1997
An IVS1-116 (A-->G) acceptor splice site mutation in the alpha 2 globin gene causing alpha + thalassaemia in two Dutch families. 71
8943885 1996
ACOG technical bulletin. Hemoglobinopathies in pregnancy. Number 220--February 1996 (replaces no. 185, October 1993). Committee on Technical Bulletins of the American College of Obstetricians and Gynecologists. 71
8735302 1996
alpha-Thalassaemia. 8
8353312 1993
HbH disease in Sardinia: molecular, hematological and clinical aspects. 38 4
1414154 1992
Characterisation of a new alpha thalassemia 1 defect due to a partial deletion of the alpha globin gene complex. 38 4
6255436 1980
A novel selective deletion of the major α-globin regulatory element (MCS-R2) causing α-thalassaemia. 4
26915575 2017
Homozygous α-thalassemia: Challenges surrounding early identification, treatment, and cure. 4
27573913 2017
Optimizing chronic transfusion therapy for survivors of hemoglobin Barts hydrops fetalis. 4
26732098 2016
The α-thalassemias. 4
25390741 2014
State of the art and new developments in molecular diagnostics for hemoglobinopathies in multiethnic societies. 4
23721114 2014
Deferasirox reduces iron overload significantly in nontransfusion-dependent thalassemia: 1-year results from a prospective, randomized, double-blind, placebo-controlled study. 4
22589472 2012
Iron overload in non-transfusion-dependent thalassemia: a clinical perspective. 4
22631036 2012
Homozygous deletion of the major alpha-globin regulatory element (MCS-R2) responsible for a severe case of hemoglobin H disease. 4
20864588 2010
The molecular basis of beta-thalassemia intermedia in southern China: genotypic heterogeneity and phenotypic diversity. 9 38
20181291 2010
Molecular characterization of alpha-Thalassemia in Adana, Turkey: A single center study. 9 38
20332613 2010
Diagnostic value of zinc protoporphyrin in a screening strategy for alpha-thalassemia. 9 38
19187279 2009
Clinical and hematological phenotype of homozygous hemoglobin E: revisit of a benign condition with hidden reproductive risk. 9 38
19323016 2009
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. 9 38
18772456 2008
Response to hydroxyurea therapy in beta-thalassemia. 9 38
18181203 2008
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. 9 38
18208812 2008
A rare thalassemic syndrome caused by interaction of Hb Adana [alpha59(E8)Gly-->Asp] with an alpha+-thalassemia deletion: clinical aspects in two cases. 9 38
18654886 2008
A family with multiple mutations and sequence variations in the alpha- and beta-globin gene clusters. 9 38
18076350 2008
Structural consequences of disease-causing mutations in the ATRX-DNMT3-DNMT3L (ADD) domain of the chromatin-associated protein ATRX. 9 38
17609377 2007

Variations for Alpha-Thalassemia

ClinVar genetic disease variations for Alpha-Thalassemia:

6 (show all 42)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 HBA1 ; HBA2 ; LOC106804612 ; LOC106804613 deletion Pathogenic
2 HBA1 NC_000016.9: g.(?_201208)_(232141_?)del deletion Pathogenic 16:201208-232141 16:151209-182142
3 HBA1 NC_000016.9: g.(?_219779)_(232141_?)del deletion Pathogenic 16:219779-232141 16:169780-182142
4 HBB NM_000518.5(HBB): c.52A> T (p.Lys18Ter) single nucleotide variant Pathogenic rs33986703 11:5248200-5248200 11:5226970-5226970
5 HBB NM_000518.5(HBB): c.118C> T (p.Gln40Ter) single nucleotide variant Pathogenic rs11549407 11:5248004-5248004 11:5226774-5226774
6 HBB NM_000518.5(HBB): c.92+1G> A single nucleotide variant Pathogenic rs33971440 11:5248159-5248159 11:5226929-5226929
7 HBB NM_000518.5(HBB): c.315+1G> A single nucleotide variant Pathogenic rs33945777 11:5247806-5247806 11:5226576-5226576
8 HBB NM_000518.5(HBB): c.92+5G> C single nucleotide variant Pathogenic rs33915217 11:5248155-5248155 11:5226925-5226925
9 HBB NM_000518.5(HBB): c.92+6T> C single nucleotide variant Pathogenic rs35724775 11:5248154-5248154 11:5226924-5226924
10 HBB NM_000518.5(HBB): c.93-21G> A single nucleotide variant Pathogenic rs35004220 11:5248050-5248050 11:5226820-5226820
11 HBB NM_000518.5(HBB): c.316-106C> G single nucleotide variant Pathogenic rs34690599 11:5247062-5247062 11:5225832-5225832
12 HBB NM_000518.5(HBB): c.-79A> G single nucleotide variant Pathogenic rs34598529 11:5248330-5248330 11:5227100-5227100
13 HBA2 NM_000517.4(HBA2): c.427T> C (p.Ter143Gln) single nucleotide variant Pathogenic rs41464951 16:223597-223597 16:173598-173598
14 HBA2 NM_000517.6(HBA2): c.377T> C (p.Leu126Pro) single nucleotide variant Pathogenic rs41397847 16:223547-223547 16:173548-173548
15 HBA2 NM_000517.6(HBA2): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs111033603 16:222913-222913 16:172914-172914
16 HBA2 NM_000517.6(HBA2): c.349G> T (p.Glu117Ter) single nucleotide variant Pathogenic rs33987053 16:223519-223519 16:173520-173520
17 HBA2 NM_000517.6(HBA2): c.96-2A> G single nucleotide variant Pathogenic rs41457746 16:223122-223122 16:173123-173123
18 HBA2 NM_000517.6(HBA2): c.70G> T (p.Glu24Ter) single nucleotide variant Pathogenic rs281864819 16:222981-222981 16:172982-172982
19 HBA2 NM_000517.6(HBA2): c.92_93AG[1] (p.Arg32fs) short repeat Pathogenic rs1057519637 16:223005-223006 16:173006-173007
20 HBA2 NM_000517.4(HBA2): c.95+2_95+6delTGAGG deletion Pathogenic rs41474145 16:223008-223012 16:173009-173013
21 HBA2 NM_000517.6(HBA2): c.*94A> G single nucleotide variant Pathogenic rs63751269 16:223693-223693 16:173694-173694
22 HBA1 NM_000558.5(HBA1): c.207C> A (p.Asn69Lys) single nucleotide variant Pathogenic rs1060339 16:227039-227039 16:177040-177040
23 HBA2 deletion Pathogenic
24 HBA1 ; HBA2 NG_000006.1: g.32867_38062del5196 deletion Pathogenic
25 HBA1 HBA1, 21-BP INS-DUP duplication Pathogenic
26 HBA1 HBA1, 33-BP DEL deletion Pathogenic
27 HBA1 HBA1, 1-BP DEL, 354C deletion Pathogenic
28 HBA1 ; HBA2 ; HBM ; HBZ ; LOC106804612 ; LOC106804613 NM_005332.2(HBZ): c.330_*22601del deletion Pathogenic 16:204300-227000 16:154301-177001
29 HBA1 ; HBA2 ; LOC106804612 ; LOC106804613 NG_000006.1: g.34164_37967del3804 deletion Pathogenic 16:223300-227103 16:173301-177104
30 HBA1 ; HBA2 GRCh37/hg19 16p13.3(chr16: 221962-228406) copy number loss Pathogenic 16:221962-228406 :0-0
31 HBA1 ; HBA2 ; HBM ; HBQ1 GRCh37/hg19 16p13.3(chr16: 216075-231021) copy number loss Pathogenic 16:216075-231021 :0-0
32 HBA2 NM_000517.6(HBA2): c.178G> C (p.Gly60Arg) single nucleotide variant Pathogenic rs41328049 16:223206-223206 16:173207-173207
33 HBA1 NM_000558.5(HBA1): c.43T> Y (p.Trp15Xaa) single nucleotide variant Pathogenic rs33964317 16:226758-226758 16:176759-176759
34 HBB NM_000518.5(HBB): c.-137C> A single nucleotide variant Pathogenic/Likely pathogenic rs33941377 11:5248388-5248388 11:5227158-5227158
35 HBB NM_000518.5(HBB): c.-138C> A single nucleotide variant Pathogenic/Likely pathogenic rs33944208 11:5248389-5248389 11:5227159-5227159
36 HBA2 NM_000517.6(HBA2): c.207C> G (p.Asn69Lys) single nucleotide variant Likely pathogenic rs111033601 16:223235-223235 16:173236-173236
37 HBA2 NM_000517.6(HBA2): c.268_280del (p.His90fs) deletion Likely pathogenic 16:223296-223308 16:173297-173309
38 HBA2 NM_000517.6(HBA2): c.69C> T (p.Gly23=) single nucleotide variant Likely pathogenic rs63751457 16:222980-222980 16:172981-172981
39 HBA1 NM_000558.5(HBA1): c.223G> C (p.Asp75His) single nucleotide variant Uncertain significance rs28928875 16:227055-227055 16:177056-177056
40 HBA2 NM_000517.6(HBA2): c.339C> G (p.His113Gln) single nucleotide variant no interpretation for the single variant rs63750404 16:223509-223509 16:173510-173510
41 HBA2 NM_000517.6(HBA2): c.340_351del (p.Leu114_Glu117del) deletion no interpretation for the single variant rs63751471 16:223510-223521 16:173511-173522
42 HBA2 NM_000517.4: c.-2_-3delAC deletion no interpretation for the single variant

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

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

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

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 HBZ HBG2 HBG1 HBB HBA2 HBA1
2 oxygen binding GO:0019825 9.8 HBZ HBG2 HBG1 HBB HBA2 HBA1
3 peroxidase activity GO:0004601 9.73 HBZ HBG2 HBG1 HBB HBA2 HBA1
4 iron ion binding GO:0005506 9.63 HBZ HBA2 HBA1
5 oxygen carrier activity GO:0005344 9.63 HBZ HBG2 HBG1 HBB HBA2 HBA1
6 organic acid binding GO:0043177 9.43 HBZ HBG2 HBG1 HBB HBA2 HBA1
7 hemoglobin binding GO:0030492 9.4 HP HBB
8 haptoglobin binding GO:0031720 9.1 HBZ HBG2 HBG1 HBB HBA2 HBA1
9 protein binding GO:0005515 10.31 TFRC NSD1 KLF1 HP HELLS HBZ

Sources for Alpha-Thalassemia

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
32 HPO
33 ICD10
34 ICD10 via Orphanet
38 LifeMap
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
55 Novoseek
58 OMIM via Orphanet
62 PubMed
71 Tocris
73 UMLS via Orphanet
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