B-THALIB
MCID: BTT013
MIFTS: 22

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 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 75
Beta-Thalassemia, Dominant, Inclusion Body Type 75
Thalassemia, Beta, Dominant Inclusion Body Type 40
Beta Thalassemia Dominant Inclusion Body Type 75
Inclusion Body Beta-Thalassemia 59
Beta-Plus-Thalassemia, Dominant 6
Dominant Beta-Thalassemia 59
Beta-Thalassemia Dominant 6
B-Thalib 75

Characteristics:

Orphanet epidemiological data:

59
dominant beta-thalassemia
Inheritance: Autosomal dominant; Age of onset: Childhood;

Classifications:



External Ids:

OMIM 57 603902
Orphanet 59 ORPHA231226
ICD10 via Orphanet 34 D56.1
UMLS via Orphanet 74 C1858990
MedGen 42 C1858990

Summaries for Beta-Thalassemia, Dominant Inclusion Body Type

UniProtKB/Swiss-Prot : 75 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 and bone marrow, 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

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

Clinical features from OMIM:

603902

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

59 32 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 splenomegaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001744
2 pallor 59 32 hallmark (90%) Very frequent (99-80%) HP:0000980
3 microcytic anemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001935
4 abnormal hemoglobin 59 32 hallmark (90%) Very frequent (99-80%) HP:0011902
5 jaundice 59 32 hallmark (90%) Very frequent (99-80%) HP:0000952
6 anemia 59 Very frequent (99-80%)

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:

41
Bone, Bone Marrow

Publications for Beta-Thalassemia, Dominant Inclusion Body Type

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

# Title Authors Year
1
Molecular basis for dominantly inherited inclusion body beta- thalassemia. ( 1971109 )
1990

Variations for Beta-Thalassemia, Dominant Inclusion Body Type

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

6 (show all 15)
# 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_000518.4(HBB): c.20A> T (p.Glu7Val) single nucleotide variant Pathogenic rs334 GRCh37 Chromosome 11, 5248232: 5248232
4 HBB NM_000518.4(HBB): c.20A> T (p.Glu7Val) single nucleotide variant Pathogenic rs334 GRCh38 Chromosome 11, 5227002: 5227002
5 HBB NM_000518.4(HBB): c.364G> T (p.Glu122Ter) single nucleotide variant Pathogenic rs33946267 GRCh37 Chromosome 11, 5246908: 5246908
6 HBB NM_000518.4(HBB): c.364G> T (p.Glu122Ter) single nucleotide variant Pathogenic rs33946267 GRCh38 Chromosome 11, 5225678: 5225678
7 HBB NM_000518.4(HBB): c.383A> C (p.Gln128Pro) single nucleotide variant Pathogenic rs33910569 GRCh37 Chromosome 11, 5246889: 5246889
8 HBB NM_000518.4(HBB): c.383A> C (p.Gln128Pro) single nucleotide variant Pathogenic rs33910569 GRCh38 Chromosome 11, 5225659: 5225659
9 HBB NM_000518.4(HBB): c.93_94insCGG (p.Arg31_Leu32insArg) insertion Pathogenic rs35348864 GRCh37 Chromosome 11, 5248028: 5248029
10 HBB NM_000518.4(HBB): c.93_94insCGG (p.Arg31_Leu32insArg) insertion Pathogenic rs35348864 GRCh38 Chromosome 11, 5226798: 5226799
11 HBB HBB, 1-BP DEL deletion Pathogenic
12 HBB NM_000518.4(HBB): c.385_388delGCTGinsCCACA (p.Ala129Profs) indel Pathogenic rs63750860 GRCh37 Chromosome 11, 5246884: 5246887
13 HBB NM_000518.4(HBB): c.385_388delGCTGinsCCACA (p.Ala129Profs) indel Pathogenic rs63750860 GRCh38 Chromosome 11, 5225654: 5225657
14 HBB NM_000518.4(HBB): c.201delA (p.Val68Cysfs) deletion Likely pathogenic rs193922553 GRCh37 Chromosome 11, 5247921: 5247921
15 HBB NM_000518.4(HBB): c.201delA (p.Val68Cysfs) deletion Likely pathogenic rs193922553 GRCh38 Chromosome 11, 5226691: 5226691

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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10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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31 HMDB
32 HPO
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34 ICD10 via Orphanet
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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