Sickle Cell Disease Ontology Project

Absence of Alpha Globin Synthesis with Gamma Globin Synthesis

http://scdontology.h3abionet.org/ontology/SCDO_0001385


The state, in utero or shortly after birth, in which all four alpha globin genes are deleted or inactivated resulting in absent alpha globin synthesis. If gamma globin synthesis persists, then the resulting phenotype is hemoglobin Barts (four gamma chains) and hemoglobin Bart hydrops fetalis.

Term info

curator note

Request inclusion into HPO below "Reduced Alpha/Gamma Synthesis Ratio" (also requested for inclusion).

dc:creator

SCDO (Clair Ingram)

definition source

Marengo-Rowe, A.J., 2007, January. The thalassemias and related disorders. In Baylor university medical center proceedings (Vol. 20, No. 1, pp. 27-31). Taylor & Francis.

Term relations