MCID: BTT018
MIFTS: 31

Beta-Thalassemia Intermedia

Categories: Blood diseases, Genetic diseases

Aliases & Classifications for Beta-Thalassemia Intermedia

Summaries for Beta-Thalassemia Intermedia

Disease Ontology : 12 A beta thalassemia that is characterized by mild to moderate anemia along with slow growth and bone abnormalities appearing in early childhood or later in life.

MalaCards based summary : Beta-Thalassemia Intermedia is related to beta-thalassemia and thalassemia. An important gene associated with Beta-Thalassemia Intermedia is HBB (Hemoglobin Subunit Beta). The drugs Hydroxyurea and Dopamine have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, bone and heart, and related phenotypes are osteoporosis and persistence of hemoglobin f

Related Diseases for Beta-Thalassemia Intermedia

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

(show top 50) (show all 67)
# Related Disease Score Top Affiliating Genes
1 beta-thalassemia 31.3 LOC110006319 LOC107133510 LOC106099062 HBB EGID-105180392
2 thalassemia 30.6 LOC110006319 LOC107133510 LOC106099062 HBB
3 beta-thalassemia major 30.0 LOC110006319 LOC107133510 LOC106099062 HBB
4 hemolytic anemia 29.6 LOC107133510 LOC106099062 HBB
5 alpha-thalassemia 29.5 LOC110006319 LOC107133510 LOC106099062 HBB
6 thalassemia minor 29.5 LOC107133510 LOC106099062 HBB
7 deficiency anemia 29.4 LOC107133510 LOC106099062 HBB
8 hemoglobinopathy 29.3 LOC110006319 LOC107133510 LOC106099062 HBB
9 hemoglobin e disease 29.2 LOC107133510 LOC106099062 HBB
10 sickle cell anemia 29.2 LOC110006319 LOC107133510 LOC106099062 HBB
11 sickle cell disease 29.1 LOC110006319 LOC107133510 LOC106099062 HBB
12 beta-thalassemia, dominant inclusion body type 28.9 LOC110006319 LOC107133510 LOC106099062 HBB
13 fetal hemoglobin quantitative trait locus 1 28.9 LOC110006319 LOC107133510 LOC106099062 HBB
14 autosomal dominant beta thalassemia 11.3
15 hemosiderosis 10.6
16 rare hereditary hemochromatosis 10.6
17 splenomegaly 10.5
18 pulmonary hypertension 10.4
19 fetal hemoglobin quantitative trait locus 6 10.3
20 hypochromic microcytic anemia 10.3
21 cholelithiasis 10.3
22 iron deficiency anemia 10.3
23 hypogonadism 10.3
24 iron metabolism disease 10.3
25 osteoporosis 10.2
26 bone mineral density quantitative trait locus 8 10.2
27 bone mineral density quantitative trait locus 15 10.2
28 microcytic anemia 10.2
29 hereditary spherocytosis 10.2
30 hypothyroidism 10.2
31 tricuspid valve insufficiency 10.2
32 tetralogy of fallot 10.0
33 anemia, hypochromic microcytic, with iron overload 1 10.0
34 lymphoma, hodgkin, classic 10.0
35 moyamoya disease 1 10.0
36 pseudoxanthoma elasticum 10.0
37 gallbladder disease 1 10.0
38 angioid streaks 10.0
39 myelodysplastic syndrome 10.0
40 bone disease 10.0
41 hypogonadotropic hypogonadism 10.0
42 rickets 10.0
43 vascular disease 10.0
44 optic nerve disease 10.0
45 thrombocytosis 10.0
46 placenta accreta 10.0
47 congestive heart failure 10.0
48 hypersplenism 10.0
49 b-cell lymphoma 10.0
50 end stage renal disease 10.0

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



Diseases related to Beta-Thalassemia Intermedia

Symptoms & Phenotypes for Beta-Thalassemia Intermedia

Human phenotypes related to Beta-Thalassemia Intermedia:

31 (show all 32)
# Description HPO Frequency HPO Source Accession
1 osteoporosis 31 hallmark (90%) HP:0000939
2 persistence of hemoglobin f 31 hallmark (90%) HP:0011904
3 anemia of inadequate production 31 hallmark (90%) HP:0010972
4 decreased mean corpuscular volume 31 hallmark (90%) HP:0025066
5 pallor 31 frequent (33%) HP:0000980
6 abnormality of iron homeostasis 31 frequent (33%) HP:0011031
7 skin ulcer 31 frequent (33%) HP:0200042
8 jaundice 31 frequent (33%) HP:0000952
9 increased susceptibility to fractures 31 frequent (33%) HP:0002659
10 hypercoagulability 31 frequent (33%) HP:0100724
11 extramedullary hematopoiesis 31 frequent (33%) HP:0001978
12 erythroid hyperplasia 31 frequent (33%) HP:0012132
13 increased hba2 hemoglobin 31 frequent (33%) HP:0045048
14 osteopenia 31 occasional (7.5%) HP:0000938
15 splenomegaly 31 occasional (7.5%) HP:0001744
16 hepatomegaly 31 occasional (7.5%) HP:0002240
17 cholelithiasis 31 occasional (7.5%) HP:0001081
18 pulmonary arterial hypertension 31 occasional (7.5%) HP:0002092
19 proximal tubulopathy 31 occasional (7.5%) HP:0000114
20 hepatosplenomegaly 31 occasional (7.5%) HP:0001433
21 leukocytosis 31 occasional (7.5%) HP:0001974
22 elevated hepatic iron concentration 31 occasional (7.5%) HP:0012465
23 decreased liver function 31 occasional (7.5%) HP:0001410
24 high-output congestive heart failure 31 occasional (7.5%) HP:0001722
25 diabetes mellitus 31 very rare (1%) HP:0000819
26 hypothyroidism 31 very rare (1%) HP:0000821
27 cirrhosis 31 very rare (1%) HP:0001394
28 hypoparathyroidism 31 very rare (1%) HP:0000829
29 hypogonadism 31 very rare (1%) HP:0000135
30 adrenal insufficiency 31 very rare (1%) HP:0000846
31 spinal cord compression 31 very rare (1%) HP:0002176
32 hepatocellular carcinoma 31 very rare (1%) HP:0001402

Drugs & Therapeutics for Beta-Thalassemia Intermedia

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

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Hydroxyurea Approved Phase 2 127-07-1 3657
2
Dopamine Approved Phase 1, Phase 2 62-31-7, 51-61-6 681
3
Benserazide Approved, Investigational Phase 1, Phase 2 322-35-0
4 Dopamine Agents Phase 1, Phase 2
5 Neurotransmitter Agents Phase 1, Phase 2
6 Antiparkinson Agents Phase 1, Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 An Open-Label Phase 2 Study of HQK-1001 in Subjects With Beta Thalassemia Intermedia Completed NCT01642758 Phase 2 Sodium 2,2 dimethylbutyrate
2 An Open Label Academic Phase 2 Study of SDMB in Subjects in Thailand With Beta Thalassemia Intermedia Completed NCT01609595 Phase 2 sodium 2,2 dimethylbutyrate
3 Effect of Hydroxyurea on the Level of Ineffective Erythropoiesis, Transfusion Requirement, and Fetal Hemoglobin Synthesis in Patients With Beta-Thalassemia-Intermedia Completed NCT00001958 Phase 2 Hydroxyurea
4 A Multi-National, Blinded, Placebo-Controlled, Dose Escalation Study to Evaluate the Safety, Tolerability, and Pharmacokinetics of HQK-1001 in Subjects With Beta Thalassemia Intermedia, Including Hemoglobin E Beta Thalassemia Completed NCT00790127 Phase 1, Phase 2 HQK-1001;Placebo
5 A Phase 2, Open-Label, Ascending Dose Study to Evaluate the Effects of ACE-536 in Patients With Beta-Thalassemia Intermedia Completed NCT01749540 Phase 2 ACE-536
6 A Phase 1b Sequential Open Label Dose-Ranging Study of Safety, Pharmacokinetics, and Preliminary Activity of Benserazide in Subjects With Beta Thalassemia Intermedia Recruiting NCT04432623 Phase 1, Phase 2 Benserazide Only Product
7 A Phase 2a, Randomized, Open-Label Study to Evaluate the Efficacy, Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of ISIS 702843 Administered Subcutaneously to Patients With Non-Transfusion Dependent β-Thalassemia Intermedia Recruiting NCT04059406 Phase 2 IONIS TMPRSS6-LRx
8 Demographic, Clinical, Laboratory and Genetical Characteristics of Patients With Beta Thalassemia Intermedia Completed NCT01443312

Search NIH Clinical Center for Beta-Thalassemia Intermedia

Genetic Tests for Beta-Thalassemia Intermedia

Anatomical Context for Beta-Thalassemia Intermedia

MalaCards organs/tissues related to Beta-Thalassemia Intermedia:

40
Spinal Cord, Bone, Heart, Liver, Bone Marrow, Skin, Endothelial

Publications for Beta-Thalassemia Intermedia

Articles related to Beta-Thalassemia Intermedia:

(show top 50) (show all 304)
# Title Authors PMID Year
1
The effect of curcumin on serum copper, zinc, and zinc/copper ratio in patients with β-thalassemia intermedia: a randomized double-blind clinical trial. 61
33432439 2021
2
A rare gene variation cap +1 (A>C) (HBB: c. -50A>C) associated with codon 5 (-CT) (HBB: c.17_18delCT) mutation in Syrian family. 61
33491330 2021
3
Incidental Diagnosis of Adult Beta-Thalassemia With Point-of-Care Ultrasound in the Emergency Department: A Case Report. 61
33447492 2020
4
The relation between mitogen activated protein kinase (MAPK) pathway and different genes expression in patients with beta Thalassemia. 61
33195827 2020
5
Evaluation of endocrine complications in beta-thalassemia intermedia (β-TI): a cross-sectional multicenter study. 61
31853840 2020
6
Beta-Thalassemia Intermedia: A Single Thalassemia Center Experience from Northeastern Iraq. 61
32190657 2020
7
Corrigendum to "Beta-Thalassemia Intermedia: A Single Thalassemia Center Experience from Northeastern Iraq". 61
32685453 2020
8
Three Mexican Families with β thalassemia intermedia with different molecular basis. 61
32142096 2020
9
Predictors of autoimmune hemolytic anemia in beta-thalassemia patients with underlying red blood cells autoantibodies. 61
31302454 2019
10
Rare double heterozygosity for poly A(A〉 G) and CD17(A〉 T) of beta thalassemia intermedia in a Chinese family. 61
31579136 2019
11
Activin-A is elevated in patients with thalassemia major and double heterozygous sickle cell/beta-thalassemia and correlates with markers of hemolysis and bone mineral density. 61
31041514 2019
12
Hb Knossos (HBB: c.82G > T), β-globin CD 5 (-CT) (HBB: c.17_18delCT) and δ-globin CD 59 (-a) (HBD: c.179delA) mutations in a Syrian patient with β-thalassemia intermedia. 61
30777047 2019
13
Efficacy and safety of resveratrol, an oral hemoglobin F-augmenting agent, in patients with beta-thalassemia intermedia. 61
29926158 2018
14
Blood transfusion versus hydroxyurea in beta-thalassemia in Iran: a cost-effectiveness study. 61
29157136 2018
15
Global analysis of erythroid cells redox status reveals the involvement of Prdx1 and Prdx2 in the severity of beta thalassemia. 61
30521599 2018
16
The survival rate of patients with beta-thalassemia major and intermedia and its trends in recent years in Iran. 61
30336663 2018
17
Genotype-phenotype correlation among beta-thalassemia and beta-thalassemia/HbE disease in Thai children: predictable clinical spectrum using genotypic analysis. 61
29695942 2018
18
Revisiting beta thalassemia intermedia: past, present, and future prospects. 61
28589785 2017
19
Thalassemia Major and Intermedia in Patients Older than 35 Years: A Single Center Experience. 61
29235740 2017
20
Thalassemia intermedia phenotype resulting from rare combination of c.46delT [Codon15 (-T)] mutation of beta globin gene and HPFH3. 61
28680605 2017
21
Bone quality in beta-thalassemia intermedia: relationships with bone quantity and endocrine and hematologic variables. 61
28321531 2017
22
A comparison of heart function and arrhythmia in clinically asymptomatic patients with beta thalassemia intermedia and beta thalassemia major. 61
27650671 2017
23
Clinical and biological specificity of beta-thalassemia intermedia: a case report. 61
27848919 2016
24
High incidence of silent cerebral infarcts in adult patients with beta thalassemia major. 61
27322087 2016
25
Cardiac and thrombotic complications in the peripartum period of a patient affected by beta-thalassemia intermedia: An unusual case. 61
27107541 2016
26
CLINICAL APPLICATION OF RECOMBINANT ERYTHROPOIETIN IN BETA-THALASSAEMIA INTERMEDIA. 61
27441542 2016
27
[Screening and molecular diagnosis for a rare genotype of beta-thalassemia intermedia]. 61
26957072 2016
28
Documentation of renal glomerular and tubular impairment and glomerular hyperfiltration in multitransfused patients with beta thalassemia. 61
26596972 2016
29
Combination of Tmprss6- ASO and the iron chelator deferiprone improves erythropoiesis and reduces iron overload in a mouse model of beta-thalassemia intermedia. 61
26405152 2016
30
A case report of extramedullary haematopoeisis in lumbosacral region presenting as cauda equina syndrome. 61
27652196 2016
31
[Beta thalassemia intermedia: clinical characteristics and molecular analysis. Case series]. 61
26294166 2015
32
Comparative study of radiographic and laboratory findings between Beta thalassemia major and Beta thalassemia intermedia patients with and without treatment by hydroxyurea. 61
25838937 2015
33
Increasing prevalence of thalassemia in America: Implications for primary care. 61
26541064 2015
34
Echocardiographic evaluation of thalassemia intermedia patients in Duhok, Iraq. 61
25495194 2014
35
Erythrocytic phosphatidylserine exposure and hemostatic alterations in β-thalassemia intermediate patients. 61
24620948 2014
36
Pregnancy in beta-thalassemia intermedia: 20-year experience of a Greek thalassemia center. 61
24889414 2014
37
[Current management of thalassemia intermedia]. 61
25282488 2014
38
Guidelines for diagnosis and management of Beta-thalassemia intermedia. 61
25247665 2014
39
Role of co-inherited Gilbert syndrome on hyperbilirubinemia in Indian beta thalassemia patients. 61
24620945 2014
40
Survey of Hfe Gene C282Y Mutation in Turkish Beta-Thalassemia Patients and Healthy Population: A Preliminary Study. 61
25330520 2014
41
Frequency of cholelithiasis in patients with Beta-thalassemia intermedia with and without hydroxyurea. 61
25237586 2014
42
A killer revealed: 10-year experience with beta-thalassemia intermedia. 61
24074485 2014
43
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. 61
25123009 2014
44
Molecular analysis of beta-globin gene mutations among Thai beta-thalassemia children: results from a single center study. 61
25525381 2014
45
End stage renal disease in six patients with beta-thalassemia intermedia. 61
23732019 2013
46
Comparison of right and left side heart functions in patients with thalassemia major, patients with thalassemia intermedia, and control group. 61
23646046 2013
47
Identification of candidate genes involved in clinical variability among Tunisian patients with β-thalassemia. 61
22771911 2012
48
Contemporary approaches to treatment of beta-thalassemia intermedia. 61
22631038 2012
49
Comparative study of hypogonadism in beta-thalassemia intermedia patients with and without hydroxyurea. 61
22664052 2012
50
New optical coherence tomography fundus findings in a case of beta-thalassemia. 61
23277736 2012

Variations for Beta-Thalassemia Intermedia

Expression for Beta-Thalassemia Intermedia

Search GEO for disease gene expression data for Beta-Thalassemia Intermedia.

Pathways for Beta-Thalassemia Intermedia

GO Terms for Beta-Thalassemia Intermedia

Sources for Beta-Thalassemia Intermedia

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10 dbSNP
11 DGIdb
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28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
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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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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