Sickle Cell Disease Ontology Project

Beta Zero Thalassemia

http://scdontology.h3abionet.org/ontology/SCDO_0000115

Beta-zero thalassemia is a form of beta-thalassemia in which beta-globin chain synthesis is absent. The clinical phenotype is often that of transfusion-dependant beta thalassemia major, however modifying factors may ameliorate the symptoms of severe anemia (Cao & Gallanelo, 2010).

Term info

curator note

Request inclusion into relevant ontology, perhaps DOID.

definition source

A. Cao and R. Galanello, "Beta Thalassemia", Genetics in Medicine, Vol. 12, No. 2, 2010, pp. 61 76. doi:10.1097/GIM.0b013e3181cd68ed

Hb Beta Zero-Thalassemia, Beta 0 Thalassemia, Hb F only, Beta-Zero-Thalassemia, Beta0 Thalassemia, Beta Zero-Thalassemia