Sickle Cell Disease Ontology Project

Sickling Hemoglobin with Two Beta-Globin Gene Substitutions

http://scdontology.h3abionet.org/ontology/SCDO_1000082

A hemoglobin that sickles due to the presence of two beta-globin gene mutations within the same HBB gene.

Term info

curator note

Request inclusion into the HPO, below "Abnormal Hemoglobin".

dc:source

http://books.google.co.za/books?id=Qd_ct5S6htMC&pg=PA573&lpg=PA573&dq=HbA/Jamaica+Plain&source=bl&ots=yyYXenAC2i&sig=0f9goLN0ZAU2iY73_1UFq-3mQHQ&hl=en&sa=X&ved=0ahUKEwifvq_MxdvUAhUJXBQKHSuaDPMQ6AEIYDAI#v=onepage&q=HbA%2FJamaica%20Plain&f=false, https://www.nejm.org/doi/full/10.1056/NEJMoa040771, https://www.omim.org/entry/141900#0245

existence in other ontologies

None

Double-Mutant Sickling Hemoglobin, Doubly Substituted Sickling Hemoglobin, Heterozygous Double-Mutant Sickling Hemoglobin

Term relations

Subclass of:

Abnormal Hemoglobin in SCD
Abnormal Hemoglobin