Sickle Cell Disease Ontology Project

Beta Thalassemia

http://scdontology.h3abionet.org/ontology/SCDO_0000111

A hemoglobinopathy characterized by the reduced (beta plus) or absent (beta zero) synthesis of the beta globin chains of hemoglobin, resulting in variable outcomes ranging from severe anemia to clinically asymptomatic individuals.

Term info

curator note

Suggest update to description in DOID. Include a "Dominant Beta-Thalassemia" sub-class? (see Orphanet)

definition source

http://purl.obolibrary.org/obo/DOID_12241, A. Cao and R. Galanello, "Beta Thalassemia", Genetics in Medicine, Vol. 12, No. 2, 2010, pp. 61 76. doi:10.1097/GIM.0b013e3181cd68ed, http://en.wikipedia.org/wiki/Beta_thalassemia, Origa R. Beta-Thalassemia. 2000 Sep 28 [Updated 2018 Jan 25]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle 1993-2018. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1426/

existence in other ontologies

Suggest update to description

Beta-Thalassemia, Beta Thalassemias, Mediterranean Anemia, Hemoglobin F Disease, Beta Type Thalassemia, Beta-Thalassemias