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hemoglobin S

Globin mutations may affect hemoglobin stability or oxygen affinity. Increased oxygen affinity: 1) low venous blood P50* 2) erythrocytosis Decreased oxygen affinity: 1) high venous blood P50* 2) diminished erythropoietin levels 3) physiological anemia * pO2 at 50% hemoglobin saturation with oxygen Laboratory: (diagnosis) - hemoglobin electrophoresis

Properties

GENERAL: hemoglobin-variant RELATED: hemoglobin S/beta thalassemia + hemoglobin S/beta thalassemia 0 sickle cell trait sickle cell disease sickle cell COMPARTMENT: cytoplasm CELL: erythrocyte SUBUNITS: hemoglobin alpha chain (2) MOTIF: lysine residue {12} lysine residue {57} Iron [Fe]-binding site SITE: 59-59 lysine residue {61} Iron [Fe]-binding site SITE: 88-88 lysine residue {91} lysine residue {100} hemoglobin beta chain (2) MOTIF: point mutation SITE: RESIDUE-6 MUTATION-FROM-AMINO-ACID: glutamate residue MUTATION-TO-AMINO-ACID: valine residue heme-binding site COFACTOR-BOUND: heme{FE+2} FOR-BINDING-OF: O2

References

Clinical Diagnosis & Management by Laboratory Methods, J.B. Henry (ed), W.B. Saunders Co., Philadelphia, PA. 1991, pg 650