A new, electrophoretically silent, fetal hemoglobin variant: Hb F-Calabria [Ggamma118(GH1)Phe-->Leu].
Hb F-Calabria [Ggamma118(GH1)Phe-->Leu] is a new fetal hemoglobin variant that was found during routine screening for abnormal hemoglobins in a newborn of Calabrian (Southern Italy) ancestry. The variant chain was identified (acid urea gel electrophoresis of dissociated globin chains in the presence of Triton X-100, and by reversed phase high performance liquid chromatography) as a slightly hydrophilic Ggamma chain. Sequencing of the polymerase chain reaction-amplified exon 3 of the Ggamma-globin gene demonstrated the TTC-->CTC mutation at codon 118 leading to the Phe-->Leu conservative substitution at position GH1. A molecular modeling study supports that the variant might not have clinical implications. This is the 40th example of a Ggamma chain variant.
Manca
L
L
Department of Physiological, Biochemical and Cell Sciences University of Sassari, Sardinia, Italy.
Cherchi
L
L
De Rosa
M C
MC
Giardina
B
B
Masala
B
B
D019943:Amino Acid Substitution; D002851:Chromatography, High Pressure Liquid; D004591:Electrophoresis, Polyacrylamide Gel; D005091:Exons; D005319:Fetal Hemoglobin / Q000737:chemistry* / Q000235:genetics*; D014644:Genetic Variation; D005914:Globins / Q000737:chemistry / Q000235:genetics; D006455:Hemoglobins, Abnormal / Q000737:chemistry* / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D007558:Italy / Q000453:epidemiology / Q000208:ethnology; D008958:Models, Molecular; D015997:Neonatal Screening; D017830:Octoxynol / Q000494:pharmacology; D017354:Point Mutation; D017422:Sequence Analysis, DNA; D014508:Urea / Q000494:pharmacology
D006455:Hemoglobins, Abnormal; C406704:hemoglobin F Calabria; D014508:Urea; D017830:Octoxynol; D005914:Globins; D005319:Fetal Hemoglobin