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.
ID
http://purl.bioontology.org/ontology/MESH/D006451
altLabel
Sickle Hemoglobin, Deoxygenated
Hemoglobin, Deoxygenated Sickle
Hemoglobin SS
SS, Hemoglobin
Hemoglobin S
Deoxyhemoglobin S
Deoxygenated Sickle Hemoglobin
Sickle Hemoglobin
AN
/urine: coord IM with HEMOGLOBINURIA (IM); hemoglobin S disease = ANEMIA, SICKLE CELL
AQL
AA AD AE AG AI AN BI CF CH CL CS DE DF EC GE HI IM IP ME PD PH PK PO RE SD ST TO TU UL UR
cui
C0019035
C0011500
C0019043
DC
1
definition
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.
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