MCID: THL011
MIFTS: 18

Thalassemia-Beta, Dominant Inclusion-Body malady

Categories: Genetic diseases (common), Blood diseases

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

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Aliases & Descriptions for Thalassemia-Beta, Dominant Inclusion-Body:

Name: Thalassemia-Beta, Dominant Inclusion-Body 49 11
Beta Thalassemia Dominant Inclusion Body Type 67 24
Dyserythropoietic Anemia Congenital Irish or Weatherall Type 67
 
Beta-Thalassemia, Dominant, Inclusion Body Type 67
B-Thalib 67

Classifications:



External Ids:

OMIM49 603902
MedGen34 C1858990

Summaries for Thalassemia-Beta, Dominant Inclusion-Body

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UniProtKB/Swiss-Prot:67 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: Thalassemia-Beta, Dominant Inclusion-Body, is also known as beta thalassemia dominant inclusion body type, and has symptoms including abnormality of the heme biosynthetic pathway, microcytic anemia and splenomegaly. An important gene associated with Thalassemia-Beta, Dominant Inclusion-Body is HBB (Hemoglobin Subunit Beta). Affiliated tissues include bone, bone marrow and liver.

Description from OMIM:49 603902

Related Diseases for Thalassemia-Beta, Dominant Inclusion-Body

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Symptoms for Thalassemia-Beta, Dominant Inclusion-Body

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Clinical features from OMIM:

603902

HPO human phenotypes related to Thalassemia-Beta, Dominant Inclusion-Body:

id Description Frequency HPO Source Accession
1 abnormality of the heme biosynthetic pathway hallmark (90%) HP:0010472
2 microcytic anemia hallmark (90%) HP:0001935
3 splenomegaly hallmark (90%) HP:0001744
4 abnormality of the liver hallmark (90%) HP:0001392
5 pallor hallmark (90%) HP:0000980

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

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Interventional clinical trials:

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

Genetic Tests for Thalassemia-Beta, Dominant Inclusion-Body

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Anatomical Context for Thalassemia-Beta, Dominant Inclusion-Body

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

33
Bone, Bone marrow, Liver

Animal Models for Thalassemia-Beta, Dominant Inclusion-Body or affiliated genes

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Publications for Thalassemia-Beta, Dominant Inclusion-Body

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Variations for Thalassemia-Beta, Dominant Inclusion-Body

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

5
id Gene Variation Type Significance SNP ID Assembly Location
1HBBNM_000518.4(HBB): c.364G> T (p.Glu122Ter)single nucleotide variantPathogenicrs33946267GRCh37Chr 11, 5246908: 5246908
2HBBNM_000518.4(HBB): c.385_388delGCTGinsCCACA (p.Ala129Profs)indelPathogenicrs63750860GRCh37Chr 11, 5246884: 5246887
3HBBNM_000518.4(HBB): c.201delA (p.Val68Cysfs)deletionLikely pathogenicrs193922553GRCh37Chr 11, 5247921: 5247921

Expression for genes affiliated with Thalassemia-Beta, Dominant Inclusion-Body

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

Pathways for genes affiliated with Thalassemia-Beta, Dominant Inclusion-Body

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GO Terms for genes affiliated with Thalassemia-Beta, Dominant Inclusion-Body

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Sources for Thalassemia-Beta, Dominant Inclusion-Body

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet