Two new hemoglobin variants: Hb Sinai-Greenspring [beta34(B16)Val-->Ile, GTC > ATC] and Hb Sinai-Bel Air [beta53(D4)Ala-->Asp, GCT > GAT].
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.
Dainer
Erin
E
Sickle Cell Center, Department of Medicine, Medical College of Georgia, Augusta, GA 30912, USA.
Wenk
Robert E
RE
Luddy
Ruth
R
Elam
Dedrey
D
Holley
Leslie
L
Kutlar
Abdullah
A
Kutlar
Ferdane
F
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*
D055544:beta-Globins; D007532:Isoleucine; D001224:Aspartic Acid; D014633:Valine; D000409:Alanine