B-THALIB
MCID: BTT013
MIFTS: 26

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

Categories: Blood 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 58 30 6
Thalassemia-Beta, Dominant Inclusion-Body 58 13
Dyserythropoietic Anemia, Congenital, Irish or Weatherall Type 58
Dyserythropoietic Anemia Congenital Irish or Weatherall Type 76
Beta-Thalassemia, Dominant, Inclusion Body Type 76
Thalassemia, Beta, Dominant Inclusion Body Type 41
Beta Thalassemia Dominant Inclusion Body Type 76
Inclusion Body Beta-Thalassemia 60
Beta-Plus-Thalassemia, Dominant 6
Dominant Beta-Thalassemia 60
Beta-Thalassemia Dominant 6
B-Thalib 76

Characteristics:

Orphanet epidemiological data:

60
dominant beta-thalassemia
Inheritance: Autosomal dominant; Age of onset: Childhood;

Classifications:



External Ids:

OMIM 58 603902
ICD10 via Orphanet 35 D56.1
UMLS via Orphanet 75 C1858990
Orphanet 60 ORPHA231226
MedGen 43 C1858990

Summaries for Beta-Thalassemia, Dominant Inclusion Body Type

UniProtKB/Swiss-Prot : 76 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, bone marrow and heart, and related phenotypes are splenomegaly and pallor

Description 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:

# Related Disease Score Top Affiliating Genes
1 beta-thalassemia 10.4
2 thalassemia 10.4
3 bowenoid papulosis 10.1
4 hemoglobinopathy 10.0

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

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

60 33 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 splenomegaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0001744
2 pallor 60 33 hallmark (90%) Very frequent (99-80%) HP:0000980
3 microcytic anemia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001935
4 abnormal hemoglobin 60 33 hallmark (90%) Very frequent (99-80%) HP:0011902
5 jaundice 60 33 hallmark (90%) Very frequent (99-80%) HP:0000952
6 anemia 60 Very frequent (99-80%)

Clinical features from OMIM:

603902

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 30 HBB

Anatomical Context for Beta-Thalassemia, Dominant Inclusion Body Type

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

42
Bone, Bone Marrow, Heart

Publications for Beta-Thalassemia, Dominant Inclusion Body Type

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

(show all 15)
# Title Authors Year
1
EMQN Best Practice Guidelines for molecular and haematology methods for carrier identification and prenatal diagnosis of the haemoglobinopathies. ( 25052315 )
2015
2
Management of sickle cell disease: summary of the 2014 evidence-based report by expert panel members. ( 25203083 )
2014
3
Guidelines for the primary prevention of stroke: a statement for healthcare professionals from the American Heart Association/American Stroke Association. ( 25355838 )
2014
4
The inherited diseases of hemoglobin are an emerging global health burden. ( 20233970 )
2010
5
Screening for sickle cell disease in newborns. ( 19323364 )
2009
6
A deletion of 11 bp (CD 131-134) in exon 3 of the beta-globin gene produces the phenotype of inclusion body beta-thalassemia. ( 15977037 )
2005
7
Dominant beta-thalassemia due to a newly identified frameshift mutation in exon 3 (codon 113, GTG-->Tg). ( 11939518 )
2002
8
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. ( 8735302 )
1996
9
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. ( 8703815 )
1996
10
Molecular basis for dominantly inherited inclusion body beta-thalassemia. ( 1971109 )
1990
11
One form of inclusion body beta-thalassemia is due to a GAA----TAA mutation at codon 121 of the beta chain. ( 2563949 )
1989
12
Characterization of a spontaneous mutation to a beta-thalassemia allele. ( 3014870 )
1986
13
beta-Thalassemia due to a deletion of the nucleotide which is substituted in the beta S-globin gene. ( 6310991 )
1983
14
Hemoglobin Rush (beta 101 (g3) glutamine): a new unstable hemoglobin causing mild hemolytic anemia. ( 4129558 )
1974
15
Inclusion-body beta-thalassemia trait. A form of beta thalassemia producing clinical manifestations in simple heterozygotes. ( 4361439 )
1974

Variations for Beta-Thalassemia, Dominant Inclusion Body Type

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

6 (show all 37)
# Gene Variation Type Significance SNP ID Assembly Location
1 HBB NM_000518.4(HBB): c.208G> A (p.Gly70Ser) single nucleotide variant Conflicting interpretations of pathogenicity, other rs33947415 GRCh37 Chromosome 11, 5247914: 5247914
2 HBB NM_000518.4(HBB): c.208G> A (p.Gly70Ser) single nucleotide variant Conflicting interpretations of pathogenicity, other rs33947415 GRCh38 Chromosome 11, 5226684: 5226684
3 HBB NM_000518.5(HBB): c.20A> T (p.Glu7Val) single nucleotide variant Pathogenic rs334 GRCh37 Chromosome 11, 5248232: 5248232
4 HBB NM_000518.5(HBB): c.20A> T (p.Glu7Val) single nucleotide variant Pathogenic rs334 GRCh38 Chromosome 11, 5227002: 5227002
5 HBB NM_000518.5(HBB): c.52A> T (p.Lys18Ter) single nucleotide variant Pathogenic rs33986703 GRCh37 Chromosome 11, 5248200: 5248200
6 HBB NM_000518.5(HBB): c.52A> T (p.Lys18Ter) single nucleotide variant Pathogenic rs33986703 GRCh38 Chromosome 11, 5226970: 5226970
7 HBB NM_000518.5(HBB): c.118C> T (p.Gln40Ter) single nucleotide variant Pathogenic rs11549407 GRCh37 Chromosome 11, 5248004: 5248004
8 HBB NM_000518.5(HBB): c.118C> T (p.Gln40Ter) single nucleotide variant Pathogenic rs11549407 GRCh38 Chromosome 11, 5226774: 5226774
9 HBB NM_000518.5(HBB): c.364G> T (p.Glu122Ter) single nucleotide variant Pathogenic rs33946267 GRCh37 Chromosome 11, 5246908: 5246908
10 HBB NM_000518.5(HBB): c.364G> T (p.Glu122Ter) single nucleotide variant Pathogenic rs33946267 GRCh38 Chromosome 11, 5225678: 5225678
11 HBB NM_000518.5(HBB): c.383A> C (p.Gln128Pro) single nucleotide variant Pathogenic rs33910569 GRCh37 Chromosome 11, 5246889: 5246889
12 HBB NM_000518.5(HBB): c.383A> C (p.Gln128Pro) single nucleotide variant Pathogenic rs33910569 GRCh38 Chromosome 11, 5225659: 5225659
13 HBB NM_000518.5(HBB): c.92+1G> A single nucleotide variant Pathogenic rs33971440 GRCh37 Chromosome 11, 5248159: 5248159
14 HBB NM_000518.5(HBB): c.92+1G> A single nucleotide variant Pathogenic rs33971440 GRCh38 Chromosome 11, 5226929: 5226929
15 HBB NM_000518.5(HBB): c.315+1G> A single nucleotide variant Pathogenic rs33945777 GRCh37 Chromosome 11, 5247806: 5247806
16 HBB NM_000518.5(HBB): c.315+1G> A single nucleotide variant Pathogenic rs33945777 GRCh38 Chromosome 11, 5226576: 5226576
17 HBB NM_000518.5(HBB): c.92+5G> C single nucleotide variant Pathogenic rs33915217 GRCh37 Chromosome 11, 5248155: 5248155
18 HBB NM_000518.5(HBB): c.92+5G> C single nucleotide variant Pathogenic rs33915217 GRCh38 Chromosome 11, 5226925: 5226925
19 HBB NM_000518.5(HBB): c.92+6T> C single nucleotide variant Pathogenic rs35724775 GRCh37 Chromosome 11, 5248154: 5248154
20 HBB NM_000518.5(HBB): c.92+6T> C single nucleotide variant Pathogenic rs35724775 GRCh38 Chromosome 11, 5226924: 5226924
21 HBB NM_000518.5(HBB): c.93-21G> A single nucleotide variant Pathogenic rs35004220 GRCh37 Chromosome 11, 5248050: 5248050
22 HBB NM_000518.5(HBB): c.93-21G> A single nucleotide variant Pathogenic rs35004220 GRCh38 Chromosome 11, 5226820: 5226820
23 HBB NM_000518.5(HBB): c.316-106C> G single nucleotide variant Pathogenic rs34690599 GRCh37 Chromosome 11, 5247062: 5247062
24 HBB NM_000518.5(HBB): c.316-106C> G single nucleotide variant Pathogenic rs34690599 GRCh38 Chromosome 11, 5225832: 5225832
25 HBB NM_000518.5(HBB): c.-79A> G single nucleotide variant Pathogenic rs34598529 GRCh37 Chromosome 11, 5248330: 5248330
26 HBB NM_000518.5(HBB): c.-79A> G single nucleotide variant Pathogenic rs34598529 GRCh38 Chromosome 11, 5227100: 5227100
27 HBB NM_000518.5(HBB): c.93_94insCGG (p.Arg31_Leu32insArg) insertion Pathogenic rs35348864 GRCh37 Chromosome 11, 5248028: 5248029
28 HBB NM_000518.5(HBB): c.93_94insCGG (p.Arg31_Leu32insArg) insertion Pathogenic rs35348864 GRCh38 Chromosome 11, 5226798: 5226799
29 HBB HBB, 1-BP DEL deletion Pathogenic
30 HBB NM_000518.5(HBB): c.385_388delGCTGinsCCACA (p.Ala129Profs) indel Pathogenic rs63750860 GRCh37 Chromosome 11, 5246884: 5246887
31 HBB NM_000518.5(HBB): c.385_388delGCTGinsCCACA (p.Ala129Profs) indel Pathogenic rs63750860 GRCh38 Chromosome 11, 5225654: 5225657
32 HBB NM_000518.5(HBB): c.-137C> A single nucleotide variant Pathogenic/Likely pathogenic rs33941377 GRCh37 Chromosome 11, 5248388: 5248388
33 HBB NM_000518.5(HBB): c.-137C> A single nucleotide variant Pathogenic/Likely pathogenic rs33941377 GRCh38 Chromosome 11, 5227158: 5227158
34 HBB NM_000518.4(HBB): c.201delA (p.Val68Cysfs) deletion Likely pathogenic rs193922553 GRCh37 Chromosome 11, 5247921: 5247921
35 HBB NM_000518.4(HBB): c.201delA (p.Val68Cysfs) deletion Likely pathogenic rs193922553 GRCh38 Chromosome 11, 5226691: 5226691
36 HBB NM_000518.5(HBB): c.-138C> A single nucleotide variant Pathogenic/Likely pathogenic rs33944208 GRCh37 Chromosome 11, 5248389: 5248389
37 HBB NM_000518.5(HBB): c.-138C> A single nucleotide variant Pathogenic/Likely pathogenic rs33944208 GRCh38 Chromosome 11, 5227159: 5227159

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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