Sickle Beta Plus Thalassemia

Preferred Label : Sickle Beta Plus Thalassemia;

NCIt synonyms : Sickle B Thalassemia;

NCIt definition : A mild form of sickle cell thalassemia characterized by the presence of hemoglobin S and a small amount of hemoglobin A in the red blood cells. It is characterized by the presence of small red blood cells and mild anemia.;

Alternative definition : NICHD: A mild form of sickle cell thalassemia characterized by the presence of hemoglobin S and a small amount of hemoglobin A in the erythrocytes. It is characterized by the presence of small erythrocytes and milder clinical phenotype.;

Détails

Origin ID

C98837;

UMLS CUI

C3274465;

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]
- Pediatric Hematology-Oncology Terminology [NCIt concept]
disease_has_molecular_abnormality
- HBB NP_000509.1:p.E7V [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
- HBA1 Gene [NCIt concept]
- HBA2 Gene [NCIt concept]
- HBB Gene [NCIt concept]

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