S-Beta Thalassemia

Preferred Label : S-Beta Thalassemia;

NCIt definition : A disorder characterized by the body's inability to synthesize beta-globin chains, leading to the formation of abnormal hemoglobin and anemia. This inherited autosomal recessive blood disorder is caused by germline mutation of the HBB gene.;

Alternative definition : NICHD: A heterozygous state in which a person has a loss of function mutation in one beta globin allele together with a hemoglobin S allele.;

Details

Origin ID

C81288;

UMLS CUI

C2825560;

Has associated anatomic sites
- Hematopoietic and Lymphatic System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Newborn Screening Terminology [NCIt concept]
- Pediatric Hematology-Oncology Terminology [NCIt concept]
disease_has_associated_gene
- HBD Gene [NCIt concept]
- HBD wt Allele [NCIt concept]
- HBG1 Gene [NCIt concept]
- HBG1 wt Allele [NCIt concept]
- HBG2 Gene [NCIt concept]
- HBG2 wt Allele [NCIt concept]
disease_has_normal_cell_origin
- Hematopoietic and Lymphoid Cell [NCIt concept]
disease_has_normal_tissue_origin
- Hematopoietic and Lymphoid Tissue [NCIt concept]
disease_has_primary_anatomic_site
- Hematopoietic and Lymphatic System [NCIt concept]
disease_mapped_to_gene
- HBB Gene [NCIt concept]
pathogenesis_of_disease_involves_gene
- HBB Gene [NCIt concept]
- HBB wt Allele [NCIt concept]

Keyword's position in hierarchy(ies) :

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