title: Hb Nottingham (alpha2beta2 (FG5) 98 val leads to gly) in a Caucasian male: clinical and biosynthetic studies.
abstract: A second instance of the unstable mutant Hb Nottingham (alpha2beta2 (FG5) 98 Val leads to Gly) is reported in a 7-year-old boy. Because of splenomegaly, cholelithiasis, and frequent episodes of abdominal pain, he underwent a splenectomy and cholecystectomy at age 6. The surgery resulted in both an amelioration of his RBC destruction and an acceleration of his rate of growth.
mesh_terms: D002648:Child; D002769:Cholelithiasis / Q000601:surgery; D005998:Glycine; D006366:Heinz Bodies; D006455:Hemoglobins, Abnormal; D006461:Hemolysis; D006801:Humans; D008297:Male; D012156:Reticulocytes; D013163:Splenomegaly / Q000601:surgery; D014633:Valine
chemical_list: D006455:Hemoglobins, Abnormal; D014633:Valine; D005998:Glycine