Hb Silver Springs [beta 131(H9)Gln-->His], a new hemoglobin variant found in six African-Americans.
We report a new hemoglobin variant which we have named Hb Silver Springs. This variant results from a substitution CAG-->CAC (Gln-->His) at codon 131 of the beta chain. It was detected only by cation exchange high performance liquid chromatography. This is the fifth reported substitution at codon 131. This variant does not appear to have any clinical or hematologic manifestations.
Hoyer
J D
JD
Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA.
Wick
M J
MJ
Thibodeau
S N
SN
Kechteiger
K S
KS
Cook
J D
JD
Fairbanks
V F
VF
D000328:Adult; D019943:Amino Acid Substitution / Q000235:genetics*; D044383:Black People / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D002851:Chromatography, High Pressure Liquid; D005260:Female; D014644:Genetic Variation; D005973:Glutamine / Q000235:genetics; D006455:Hemoglobins, Abnormal / Q000737:chemistry / Q000235:genetics* / Q000302:isolation & purification*; D006639:Histidine / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D001741:Black or African American
D006455:Hemoglobins, Abnormal; C111399:hemoglobin Silver Spring; D005973:Glutamine; D006639:Histidine