Sickle Cell Disease Ontology Project

Hemoglobin C-Harlem

http://scdontology.h3abionet.org/ontology/SCDO_1000058

An abnormal hemoglobin in which two mutations occur in its beta-chains results in the sickling of red blood cells containing this hemoglobin. The sickling is the result of the mutation in which glutamic acid in position 6 is replaced by valine, which is not counteracted by the second mutation, in which the aspartic acid in position 73 is replaced by asparagine.

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#0243

existence in other ontologies

Few but definitions not freely available

HbS-HBC-Harlem, Hemoglobin S-Hemoglobin C-Harlem, Hemoglobin C-Georgetown