title: Two new hemoglobin variants: Hb Sinai-Greenspring [beta34(B16)Val-->Ile, GTC > ATC] and Hb Sinai-Bel Air [beta53(D4)Ala-->Asp, GCT > GAT].
abstract: Neonatal screening for hemoglobinopathies occasionally results in the detection of novel hemoglobin (Hb) variants. Two heterozygous infants were found with different beta chain mutations, neither of which produced obvious clinical or laboratory abnormalities on routine examinations. The variants were characterized by cation exchange high performance liquid chromatography (HPLC), reversed phase HPLC, and sequencing of amplified beta-globin genes. Functional studies could not be performed at this time.
authors.affiliation: Sickle Cell Center, Department of Medicine, Medical College of Georgia, Augusta, GA 30912, USA.
authors.forename: Erin
authors.initials: E
authors.lastname: Dainer
authors.forename: Robert E
authors.initials: RE
authors.lastname: Wenk
authors.forename: Ruth
authors.initials: R
authors.lastname: Luddy
authors.forename: Dedrey
authors.initials: D
authors.lastname: Elam
authors.forename: Leslie
authors.initials: L
authors.lastname: Holley
authors.forename: Abdullah
authors.initials: A
authors.lastname: Kutlar
authors.forename: Ferdane
authors.initials: F
authors.lastname: Kutlar
mesh_terms: D000409:Alanine / Q000737:chemistry / Q000235:genetics; D019943:Amino Acid Substitution; D001224:Aspartic Acid / Q000737:chemistry / Q000235:genetics; D001483:Base Sequence; D002675:Child, Preschool; D002851:Chromatography, High Pressure Liquid; D006801:Humans; D007223:Infant; D007532:Isoleucine / Q000737:chemistry / Q000235:genetics; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D014633:Valine / Q000737:chemistry / Q000235:genetics; D055544:beta-Globins / Q000737:chemistry / Q000235:genetics*
chemical_list: D055544:beta-Globins; D007532:Isoleucine; D001224:Aspartic Acid; D014633:Valine; D000409:Alanine