Sickle Cell Disease Ontology Project

Hemoglobin D

http://scdontology.h3abionet.org/ontology/SCDO_1000007


An abnormal hemoglobin caused by various point mutations within the HBB gene. This form of hemoglobin prevents red blood cells from carrying oxygen effectively. There are at least 8 different types of hemoglobin D.

Term info

curator note

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

definition source

https://www.sciencedirect.com/science/article/pii/S1516848415000316, https://newbornscreeningcodes.nlm.nih.gov/nb/sc/condition/Hb-F-S-D

existence in other ontologies

Few but definitions not freely available

HbD, Hb D