sickle cell disease

Summary
Definition
A blood protein disease that is characterized by chronic hemolytic anemia and intermittent vaso-occlusive events that result in tissue ischemia leading to acute and chronic pain as well as organ damage that can affect any organ system, resulting from the replacement of one of the beta-globin subunits in hemoglobin with atypical hemoglobin molecules called hemoglobin S which can distort red blood cells into a sickle or crescent shape. Sickle cell disease subtypes should include a detailed genotypic description for the hemoglobin molecules (e.g., Hb S/S, Hb S/C, Hb S/β0-thalassemia).
Super Class
blood protein disease
Disease Ontology
DOID:0081445
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
3043 HBB hemoglobin subunit beta
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P68871 Hemoglobin subunit beta

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: April 7, 2025