Hemoglobin S
An abnormal hemoglobin resulting from the substitution of valine for glutamic acid at position 6 of the beta chain of the globin moiety. The heterozygous state results in sickle cell trait, the homozygous in sickle cell anemia.
Sickle Cell Disease Ontology Project
Term info
database cross reference
- MESH:D006451
database cross reference
MESH:D006451
definition source
http://purl.bioontology.org/ontology/MESH/D006451
existence in other ontologies
Sufficient
Haemoglobin S, Sickle Haemoglobin, HbS, Sickle Hemoglobin, HbS Haemoglobin, Hb S, HbS Hemoglobin
Term relations
Related from:
has causal molecular phenotype
- Sickle Cell Disease-S/S-South End
- Sickle Cell Disease-S/Quebec Chori
- Sickle Cell Disease-S/C-Harlem
- Sickle Cell Disease-S/HPFH
- Sickle Cell Disease-SS
- Hemoglobin O-Arab Disease
- Sickle Cell Disease-SD
- Sickle Cell Disease-S/D-Punjab
- Sickle Cell Disease-SE
- Sickle Cell Disease-S/Lepore Boston
- Sickle Cell Disease-S/O-Arab
- Sickle Cell Disease-S Beta Minus Thalassemia
- Sickle Beta Thalassemia
- Sickle Cell Disease-S Beta Zero Thalassemia
- Sickle Cell Disease-SC
causes molecular phenotype
- Hemoglobin Genotype AS
- Hemoglobin Genotype S/Beta Minus Thalassaemia
- Hemoglobin Genotype S/Quebec-Chori
- Hemoglobin Genotype S/S-South End
- Hemoglobin Genotype S/C-Harlem
- Hemoglobin Genotype SS
- Hemoglobin Genotype SD
- Hemoglobin Genotype S/Lepore Boston
- Hemoglobin Genotype S/Beta Zero Thalassaemia
- Hemoglobin Genotype S/HPFH
- Hemoglobin Genotype S/O-Arab
- Hemoglobin Genotype SE
- Hemoglobin Genotype S/D-Punjab
- Hemoglobin Genotype SC
- Hemoglobin Genotype S/Beta Thalassemia