Sickle Cell Disease Ontology Project

Hemoglobin S-Antilles

http://scdontology.h3abionet.org/ontology/SCDO_1000073

A form of hemoglobin caused by two mutations in its beta-chains, the classic beta S mutation (beta 6 Glu>Val) and beta 23 Val>Ile. Hemoglobin S-Antilles has the same electrophoretic mobility as Hemoglobin S but a distinct isoelectric focus and produces sickling in the carriers of the Hb A/S Antilles trait.

Term info

curator note

Request inclusion into the HPO, below "Abnormal Hemoglobin"/"Sickling Hemoglobin with Two Beta-Globin Gene Substitutions".

dc:creator

SCDO (Jade Hotchkiss)

definition source

https://www.omim.org/entry/141900#0244

existence in other ontologies

Few but definitions not freely available