title: Hb S-São Paulo: a new sickling hemoglobin with stable polymers and decreased oxygen affinity.
abstract: Hb S-São Paulo (SP) [HBB:c.20A>T p.Glu6Val; c.196A>G p.Lys65Glu] is a new double-mutant hemoglobin that was found in heterozygosis in an 18-month-old Brazilian male with moderate anemia. It behaves like Hb S in acid electrophoresis, isoelectric focusing and solubility testing but shows different behavior in alkaline electrophoresis, cation-exchange HPLC and RP-HPLC. The variant is slightly unstable, showed reduced oxygen affinity and also appeared to form polymers more stable than the Hb S. Molecular dynamics simulation suggests that the polymerization is favored by interfacial electrostatic interactions. This provides a plausible explanation for some of the reported experimental observations.
authors.affiliation: Department of Clinical Pathology, School of Medical Sciences, State University of Campinas, Campinas, State of São Paulo, Brazil.
authors.forename: Susan E D C
authors.initials: SE
authors.lastname: Jorge
authors.forename: Ariel A
authors.initials: AA
authors.lastname: Petruk
authors.forename: Elza M
authors.initials: EM
authors.lastname: Kimura
authors.forename: Denise M
authors.initials: DM
authors.lastname: Oliveira
authors.forename: Lucas
authors.initials: L
authors.lastname: Caire
authors.forename: Cintia N
authors.initials: CN
authors.lastname: Suemasu
authors.forename: Paulo A A
authors.initials: PA
authors.lastname: Silveira
authors.forename: Dulcineia M
authors.initials: DM
authors.lastname: Albuquerque
authors.forename: Fernando F
authors.initials: FF
authors.lastname: Costa
authors.forename: Munir S
authors.initials: MS
authors.lastname: Skaf
authors.forename: Leandro
authors.initials: L
authors.lastname: Martínez
authors.forename: Maria de Fatima
authors.initials: Mde F
authors.lastname: Sonati
mesh_terms: D019943:Amino Acid Substitution; D000755:Anemia, Sickle Cell / Q000235:genetics* / Q000378:metabolism; D001483:Base Sequence; D002851:Chromatography, High Pressure Liquid; D004586:Electrophoresis; D006451:Hemoglobin, Sickle / Q000737:chemistry / Q000235:genetics / Q000378:metabolism*; D006579:Heterozygote; D006801:Humans; D007223:Infant; D007525:Isoelectric Focusing; D008297:Male; D056004:Molecular Dynamics Simulation; D008969:Molecular Sequence Data; D010100:Oxygen / Q000378:metabolism*; D011108:Polymers; D055550:Protein Stability; D012995:Solubility; D055672:Static Electricity; D055544:beta-Globins / Q000737:chemistry / Q000235:genetics / Q000378:metabolism*
chemical_list: D006451:Hemoglobin, Sickle; D011108:Polymers; D055544:beta-Globins; C571329:hemoglobin Hb S-São Paulo; D010100:Oxygen