Sickle Cell Disease Ontology Project

Hemoglobin E Disease

http://scdontology.h3abionet.org/ontology/SCDO_0000530


An autosomal recessive haemoglobinopathy characterized by an abnormal form of haemoglobin called haemoglobin E, which disrupts the oxygen-carrying ability of red blood cells. The condition can lead to mild or moderate hemolytic anemia; however, this condition often has no clinical manifestations. with a generally benign, asymptomatic presentation.

Term info

definition source

https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=3654&Disease_Disease_Search_diseaseGroup=hemoglobin-E-disease&Disease_Disease_Search_diseaseType=Pat&Disease(s)/group%20of%20diseases=Hemoglobin-E-disease&title=Hemoglobin%20E%20disease&search=Disease_Search_Simple, http://newbornscreeningcodes.nlm.nih.gov/nb/sc/condition/Hb-F-E

Haemoglobin E Disease, Hb E-Disease