B-THALIB
MCID: BTT013
MIFTS: 35

Beta-Thalassemia, Dominant Inclusion Body Type (B-THALIB)

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

Aliases & Classifications for Beta-Thalassemia, Dominant Inclusion Body Type

MalaCards integrated aliases for Beta-Thalassemia, Dominant Inclusion Body Type:

Name: Beta-Thalassemia, Dominant Inclusion Body Type 57 29 6
Thalassemia-Beta, Dominant Inclusion-Body 57 13
Dyserythropoietic Anemia, Congenital, Irish or Weatherall Type 57
Dyserythropoietic Anemia Congenital Irish or Weatherall Type 72
Beta-Thalassemia, Dominant, Inclusion Body Type 72
Thalassemia, Beta, Dominant Inclusion Body Type 39
Beta Thalassemia Dominant Inclusion Body Type 72
Inclusion Body Beta-Thalassemia 58
Beta-Plus-Thalassemia, Dominant 6
Dominant Beta-Thalassemia 58
Beta-Thalassemia Dominant 6
B-Thalib 72

Characteristics:

Orphanet epidemiological data:

58
dominant beta-thalassemia
Inheritance: Autosomal dominant; Age of onset: Childhood;

Classifications:

Orphanet: 58  
Rare renal diseases
Rare endocrine diseases
Rare haematological diseases


Summaries for Beta-Thalassemia, Dominant Inclusion Body Type

UniProtKB/Swiss-Prot : 72 Beta-thalassemia, dominant, inclusion body type: An autosomal dominant form of beta thalassemia characterized by moderate anemia, lifelong jaundice, cholelithiasis and splenomegaly, marked morphologic changes in the red cells, erythroid hyperplasia of the bone marrow with increased numbers of multinucleate red cell precursors, and the presence of large inclusion bodies in the normoblasts, both in the marrow and in the peripheral blood after splenectomy.

MalaCards based summary : Beta-Thalassemia, Dominant Inclusion Body Type, also known as thalassemia-beta, dominant inclusion-body, is related to beta-thalassemia and thalassemia. An important gene associated with Beta-Thalassemia, Dominant Inclusion Body Type is HBB (Hemoglobin Subunit Beta). Affiliated tissues include bone marrow and heart, and related phenotypes are persistence of hemoglobin f and reduced hemoglobin a

More information from OMIM: 603902

Related Diseases for Beta-Thalassemia, Dominant Inclusion Body Type

Diseases related to Beta-Thalassemia, Dominant Inclusion Body Type via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 33)
# Related Disease Score Top Affiliating Genes
1 beta-thalassemia 29.6 LOC110006319 LOC107133510 LOC106099062 HBB
2 thalassemia 29.6 LOC110006319 LOC107133510 LOC106099062 HBB
3 beta-thalassemia major 29.3 LOC110006319 LOC107133510 LOC106099062 HBB
4 hemolytic anemia 29.0 LOC107133510 LOC106099062 HBB
5 hemoglobinopathy 28.9 LOC110006319 LOC107133510 LOC106099062 HBB
6 autosomal dominant beta thalassemia 11.5
7 splenomegaly 10.2
8 cholelithiasis 9.9
9 microcytic anemia 9.9
10 hereditary spherocytosis 9.9
11 rare deficiency anemia 9.9
12 hemoglobin d disease 9.6 LOC110006319 LOC107133510 HBB
13 methemoglobinemia 9.5 LOC107133510 LOC106099062 HBB
14 hemoglobin e-beta-thalassemia syndrome 9.5 LOC107133510 LOC106099062 HBB
15 sickle cell disease and related diseases 9.5 LOC107133510 LOC106099062 HBB
16 hemoglobin zurich 9.5 LOC107133510 LOC106099062 HBB
17 thalassemia minor 9.4 LOC107133510 LOC106099062 HBB
18 splenic infarction 9.4 LOC107133510 LOC106099062 HBB
19 hemoglobin c disease 9.4 LOC107133510 LOC106099062 HBB
20 hemoglobin e disease 9.3 LOC107133510 LOC106099062 HBB
21 beta-thalassemia intermedia 9.2 LOC110006319 LOC107133510 LOC106099062 HBB
22 methemoglobinemia, beta type 9.2 LOC110006319 LOC107133510 LOC106099062 HBB
23 methemoglobinemia, beta-globin type 9.2 LOC110006319 LOC107133510 LOC106099062 HBB
24 fetal hemoglobin quantitative trait locus 1 9.2 LOC110006319 LOC107133510 LOC106099062 HBB
25 sickle cell disease 9.2 LOC110006319 LOC107133510 LOC106099062 HBB
26 heinz body anemias 9.2 LOC110006319 LOC107133510 LOC106099062 HBB
27 hereditary persistence of fetal hemoglobin-sickle cell disease syndrome 9.2 LOC110006319 LOC107133510 LOC106099062 HBB
28 deficiency anemia 9.1 LOC107133510 LOC106099062 HBB
29 sickle cell anemia 9.1 LOC110006319 LOC107133510 LOC106099062 HBB
30 erythrocytosis, familial, 6 9.1 LOC110006319 LOC107133510 LOC106099062 HBB
31 alpha-thalassemia 9.1 LOC110006319 LOC107133510 LOC106099062 HBB
32 hemoglobin se disease 9.1 LOC110006319 LOC107133510 LOC106099062 HBB
33 malaria 9.0 LOC110006319 LOC107133510 LOC106099062 HBB

Graphical network of the top 20 diseases related to Beta-Thalassemia, Dominant Inclusion Body Type:



Diseases related to Beta-Thalassemia, Dominant Inclusion Body Type

Symptoms & Phenotypes for Beta-Thalassemia, Dominant Inclusion Body Type

Human phenotypes related to Beta-Thalassemia, Dominant Inclusion Body Type:

58 31 (show all 49)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 persistence of hemoglobin f 58 31 hallmark (90%) Very frequent (99-80%) HP:0011904
2 reduced hemoglobin a 58 31 hallmark (90%) Very frequent (99-80%) HP:0011905
3 pallor 58 31 frequent (33%) Frequent (79-30%) HP:0000980
4 hypersplenism 58 31 frequent (33%) Frequent (79-30%) HP:0001971
5 hypochromic microcytic anemia 58 31 frequent (33%) Frequent (79-30%) HP:0004840
6 extramedullary hematopoiesis 58 31 frequent (33%) Frequent (79-30%) HP:0001978
7 anisocytosis 58 31 frequent (33%) Frequent (79-30%) HP:0011273
8 decreased mean corpuscular volume 58 31 frequent (33%) Frequent (79-30%) HP:0025066
9 decreased mean corpuscular hemoglobin concentration 58 31 frequent (33%) Frequent (79-30%) HP:0025547
10 diabetes mellitus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000819
11 hypothyroidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000821
12 splenomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001744
13 abnormality of the dentition 58 31 occasional (7.5%) Occasional (29-5%) HP:0000164
14 delayed puberty 58 31 occasional (7.5%) Occasional (29-5%) HP:0000823
15 genu valgum 58 31 occasional (7.5%) Occasional (29-5%) HP:0002857
16 osteoporosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000939
17 failure to thrive in infancy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001531
18 hepatic fibrosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001395
19 cirrhosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001394
20 irritability 58 31 occasional (7.5%) Occasional (29-5%) HP:0000737
21 abnormality of iron homeostasis 58 31 occasional (7.5%) Occasional (29-5%) HP:0011031
22 venous thrombosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0004936
23 skin ulcer 58 31 occasional (7.5%) Occasional (29-5%) HP:0200042
24 jaundice 58 31 occasional (7.5%) Occasional (29-5%) HP:0000952
25 dyspnea 58 31 occasional (7.5%) Occasional (29-5%) HP:0002094
26 arthralgia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002829
27 hypoparathyroidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000829
28 feeding difficulties 58 31 occasional (7.5%) Occasional (29-5%) HP:0011968
29 diarrhea 58 31 occasional (7.5%) Occasional (29-5%) HP:0002014
30 hepatosplenomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001433
31 recurrent fever 58 31 occasional (7.5%) Occasional (29-5%) HP:0001954
32 hypoplasia of the musculature 58 31 occasional (7.5%) Occasional (29-5%) HP:0009004
33 hypopituitarism 58 31 occasional (7.5%) Occasional (29-5%) HP:0040075
34 hyperpigmentation of the skin 58 31 occasional (7.5%) Occasional (29-5%) HP:0000953
35 chronic infection 58 31 occasional (7.5%) Occasional (29-5%) HP:0031035
36 chronic hepatitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0200123
37 frontal bossing 58 31 very rare (1%) Very rare (<4-1%) HP:0002007
38 depressed nasal bridge 58 31 very rare (1%) Very rare (<4-1%) HP:0005280
39 dilated cardiomyopathy 58 31 very rare (1%) Very rare (<4-1%) HP:0001644
40 arrhythmia 58 31 very rare (1%) Very rare (<4-1%) HP:0011675
41 upslanted palpebral fissure 58 31 very rare (1%) Very rare (<4-1%) HP:0000582
42 adrenal insufficiency 58 31 very rare (1%) Very rare (<4-1%) HP:0000846
43 malar prominence 58 31 very rare (1%) Very rare (<4-1%) HP:0010620
44 hepatocellular carcinoma 58 31 very rare (1%) Very rare (<4-1%) HP:0001402
45 high-output congestive heart failure 58 31 very rare (1%) Very rare (<4-1%) HP:0001722
46 hyperplasia of the maxilla 58 31 very rare (1%) Very rare (<4-1%) HP:0430028
47 bowing of the long bones 58 Occasional (29-5%)
48 growth delay 58 Occasional (29-5%)
49 abnormality of skeletal morphology 58 Occasional (29-5%)

Clinical features from OMIM®:

603902 (Updated 05-Apr-2021)

Drugs & Therapeutics for Beta-Thalassemia, Dominant Inclusion Body Type

Search Clinical Trials , NIH Clinical Center for Beta-Thalassemia, Dominant Inclusion Body Type

Genetic Tests for Beta-Thalassemia, Dominant Inclusion Body Type

Genetic tests related to Beta-Thalassemia, Dominant Inclusion Body Type:

# Genetic test Affiliating Genes
1 Beta-Thalassemia, Dominant Inclusion Body Type 29 HBB

Anatomical Context for Beta-Thalassemia, Dominant Inclusion Body Type

MalaCards organs/tissues related to Beta-Thalassemia, Dominant Inclusion Body Type:

40
Bone Marrow, Heart

Publications for Beta-Thalassemia, Dominant Inclusion Body Type

Articles related to Beta-Thalassemia, Dominant Inclusion Body Type:

(show all 21)
# Title Authors PMID Year
1
Molecular basis for dominantly inherited inclusion body beta-thalassemia. 57 6 61
1971109 1990
2
One form of inclusion body beta-thalassemia is due to a GAA----TAA mutation at codon 121 of the beta chain. 57 6 61
2563949 1989
3
Inclusion-body beta-thalassemia trait. A form of beta thalassemia producing clinical manifestations in simple heterozygotes. 57 6 61
4361439 1974
4
Characterization of a spontaneous mutation to a beta-thalassemia allele. 57 6
3014870 1986
5
Another Hb with inclusion bodies β-thalassemia, owing to Hb Durham-N.C. [β114(G16) Leu > Pro]. First case described in Hispanic populations. 6
21845419 2012
6
A novel frameshift mutation at codon 66 (HBB:c.del201A) in the β-globin gene leads to beta-thalassemia. 6
20532507 2011
7
The inherited diseases of hemoglobin are an emerging global health burden. 6
20233970 2010
8
Beta-thalassemia in the Korean population. 6
12144056 2002
9
Dominant beta-thalassemia due to a newly identified frameshift mutation in exon 3 (codon 113, GTG-->Tg). 6
11939518 2002
10
Genetic analysis of beta-thalassemia intermedia in Israel: diversity of mechanisms and unpredictability of phenotype. 6
8980256 1997
11
The dominant beta-thalassaemia in a Spanish family is due to a frameshift that introduces an extra CGG codon ( = arginine) at the 5' end of the second exon. 6
8703815 1996
12
Beta-thalassemia alleles and unstable hemoglobin types among Russian pediatric patients. 6
8037185 1994
13
A novel beta-globin mutation, beta Durham-NC [beta 114 Leu-->Pro], produces a dominant thalassemia-like phenotype. 6
8111050 1994
14
beta-Thalassemia due to a deletion of the nucleotide which is substituted in the beta S-globin gene. 6
6310991 1983
15
Hemoglobin Rush (beta 101 (g3) glutamine): a new unstable hemoglobin causing mild hemolytic anemia. 6
4129558 1974
16
A genetically determined disorder with features both of thalassaemia and congenital dyserythropoietic anaemia. 57
4351905 1973
17
A deletion of 11 bp (CD 131-134) in exon 3 of the beta-globin gene produces the phenotype of inclusion body beta-thalassemia. 61
15977037 2005
18
Eight-base deletion in exon 3 of the beta-globin gene produced a novel variant (beta khon kaen) with an inclusion body beta-thalassemia trait. 61
2070092 1991
19
Hemoglobin Chesterfield (beta 28 Leu----Arg) produces the phenotype of inclusion body beta thalassemia. 61
1675132 1991
20
Inclusion body beta-thalassemia trait in a Swiss family is caused by an abnormal hemoglobin (Geneva) with an altered and extended beta chain carboxy-terminus due to a modification in codon beta 114. 61
3401599 1988
21
Probable inclusion-body beta-thalassemia in a Chinese family. 61
197049 1976

Variations for Beta-Thalassemia, Dominant Inclusion Body Type

ClinVar genetic disease variations for Beta-Thalassemia, Dominant Inclusion Body Type:

6 (show all 20)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LOC110006319 , HBB , LOC107133510 NM_000518.5(HBB):c.316-106C>G SNV Pathogenic 15457 rs34690599 GRCh37: 11:5247062-5247062
GRCh38: 11:5225832-5225832
2 LOC106099062 , LOC110006319 , HBB , LOC107133510 NM_000518.5(HBB):c.315+1G>A SNV Pathogenic 15438 rs33945777 GRCh37: 11:5247806-5247806
GRCh38: 11:5226576-5226576
3 LOC106099062 , HBB , LOC107133510 NM_000518.5(HBB):c.118C>T (p.Gln40Ter) SNV Pathogenic 15402 rs11549407 GRCh37: 11:5248004-5248004
GRCh38: 11:5226774-5226774
4 LOC106099062 , HBB , LOC107133510 NM_000518.5(HBB):c.93-21G>A SNV Pathogenic 15454 rs35004220 GRCh37: 11:5248050-5248050
GRCh38: 11:5226820-5226820
5 LOC106099062 , HBB , LOC107133510 NM_000518.5(HBB):c.92+6T>C SNV Pathogenic 15450 rs35724775 GRCh37: 11:5248154-5248154
GRCh38: 11:5226924-5226924
6 HBB , LOC106099062 , LOC107133510 NM_000518.5(HBB):c.-137C>A SNV Pathogenic 36285 rs33941377 GRCh37: 11:5248388-5248388
GRCh38: 11:5227158-5227158
7 HBB , LOC106099062 , LOC107133510 NM_000518.5(HBB):c.-79A>G SNV Pathogenic 15469 rs34598529 GRCh37: 11:5248330-5248330
GRCh38: 11:5227100-5227100
8 LOC106099062 , HBB , LOC107133510 NM_000518.5(HBB):c.52A>T (p.Lys18Ter) SNV Pathogenic 15401 rs33986703 GRCh37: 11:5248200-5248200
GRCh38: 11:5226970-5226970
9 LOC106099062 , HBB , LOC107133510 NM_000518.5(HBB):c.92+1G>A SNV Pathogenic 15436 rs33971440 GRCh37: 11:5248159-5248159
GRCh38: 11:5226929-5226929
10 LOC106099062 , HBB , LOC107133510 NM_000518.5(HBB):c.92+5G>C SNV Pathogenic 15447 rs33915217 GRCh37: 11:5248155-5248155
GRCh38: 11:5226925-5226925
11 HBB HBB, 1-BP DEL Deletion Pathogenic 15600 GRCh37:
GRCh38:
12 HBB NM_000518.5(HBB):c.92_94dup (p.Arg31dup) Insertion Pathogenic 869322 GRCh37:
GRCh38:
13 LOC110006319 , HBB , LOC107133510 NM_000518.5(HBB):c.383A>C (p.Gln128Pro) SNV Pathogenic 15409 rs33910569 GRCh37: 11:5246889-5246889
GRCh38: 11:5225659-5225659
14 LOC110006319 , HBB , LOC107133510 NM_000518.5(HBB):c.344T>C (p.Leu115Pro) SNV Pathogenic 15513 rs36015961 GRCh37: 11:5246928-5246928
GRCh38: 11:5225698-5225698
15 LOC110006319 , HBB , LOC107133510 NM_000518.5(HBB):c.364G>T (p.Glu122Ter) SNV Pathogenic 15404 rs33946267 GRCh37: 11:5246908-5246908
GRCh38: 11:5225678-5225678
16 LOC110006319 , HBB , LOC107133510 NM_000518.5(HBB):c.385_388delinsCCACA (p.Ala129fs) Indel Pathogenic 15609 rs63750860 GRCh37: 11:5246884-5246887
GRCh38: 11:5225654-5225657
17 LOC106099062 , HBB , LOC107133510 NM_000518.5(HBB):c.20A>T (p.Glu7Val) SNV Pathogenic 15333 rs334 GRCh37: 11:5248232-5248232
GRCh38: 11:5227002-5227002
18 HBB , LOC106099062 , LOC107133510 NM_000518.5(HBB):c.-138C>A SNV Likely pathogenic 393701 rs33944208 GRCh37: 11:5248389-5248389
GRCh38: 11:5227159-5227159
19 LOC106099062 , HBB , LOC107133510 NM_000518.5(HBB):c.201del (p.Val68fs) Deletion Likely pathogenic 36302 rs193922553 GRCh37: 11:5247921-5247921
GRCh38: 11:5226691-5226691
20 LOC106099062 , HBB , LOC107133510 NM_000518.4(HBB):c.208G>A (p.Gly70Ser) SNV not provided 15138 rs33947415 GRCh37: 11:5247914-5247914
GRCh38: 11:5226684-5226684

Expression for Beta-Thalassemia, Dominant Inclusion Body Type

Search GEO for disease gene expression data for Beta-Thalassemia, Dominant Inclusion Body Type.

Pathways for Beta-Thalassemia, Dominant Inclusion Body Type

GO Terms for Beta-Thalassemia, Dominant Inclusion Body Type

Sources for Beta-Thalassemia, Dominant Inclusion Body Type

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