title: Hemoglobin F Lódź (G gamma I 44 Ser replaced by Arg). A newly identified variant from an American infant of Polish descent.
abstract: An electrophoretically slowly migrating hemoglobin variant was identified in a neonate of Polish parents from a cord blood hemoglobin survey. Structural analysis of the gamma chain of the mutant hemoglobin, with fractionation of the tryptic peptides by means of high-performance liquid chromatography, demonstrated a substitution of serine-44 by arginine. Glycine was identified at position 136 of the gamma chain and isoleucine at position 75. Serine residue 44 appears not to be a heme contact site, but as a result of the substitution in this mutant hemoglobin, the possibility exists for formation of a salt bridge between the arginine and a heme propionate group. The infant's hematologic findings suggested the possibility of mild hemolysis, but these changes may have been due to isoimmune disease.
mesh_terms: D000596:Amino Acids / Q000032:analysis; D001120:Arginine; D002851:Chromatography, High Pressure Liquid; D005312:Fetal Blood / Q000032:analysis; D005319:Fetal Hemoglobin; D014644:Genetic Variation; D006455:Hemoglobins, Abnormal / Q000235:genetics / Q000302:isolation & purification*; D009154:Mutation; D010446:Peptide Fragments / Q000032:analysis; D011044:Poland / Q000208:ethnology; D012694:Serine; D014357:Trypsin; D014481:United States
chemical_list: D000596:Amino Acids; D006455:Hemoglobins, Abnormal; D010446:Peptide Fragments; D012694:Serine; C036348:hemoglobin F Lodz; D005319:Fetal Hemoglobin; D001120:Arginine; D014357:Trypsin