Sickle Cell Disease Ontology Project

Hemoglobin Genotype AE

http://scdontology.h3abionet.org/ontology/SCDO_1000227


A genotype whereby one HBB allele produces hemoglobin beta chains for normal adult hemoglobin and the other produces the abnormal hemoglobin beta chains for hemoglobin E. Individuals with this genotype are known to be carriers of the hemoglobin E trait.

Term info

created by

clair ingram

creation date

2018-09-23T14:31:27.507Z

curator note

Request inclusion into relevant ontology

Hemoglobin E Trait Genotype, beta / beta26Glu>Lys, AE Hemoglobin Genotype, Haemoglobin Genotype AE, AE Genotype

layperson description

A genotype whereby one of the genes coding for hemoglobin subunit beta produces hemoglobin beta chains for normal adult hemoglobin and the other gene produces the abnormal hemoglobin beta chains of hemoglobin E, which involves a beta26 Glu>Lys mutation. Individuals with this genotype are known to be carriers of the hemoglobin E trait.

Term relations

Subclass of: