Hb F-Charlotte, an A gamma variant with a threonine residue in position gamma 75 and a glycine residue in position gamma 136.
Structural analyses of an abnormal gamma chain, present in a relative amount of approximately 10% in a cord blood sample of a Black newborn baby, identified two substitutions (gamma 75 Ile----Thr and gamma 136 Ala----Gly) in an apparent variant of the A gamma chain. Gene mapping analysis of genomic DNA and hybridization with specific probes confirmed the presence of these two mutations and provided the evidence to indicate that the abnormal gamma chain was indeed a variant of A gamma with the two listed mutations.
Plaseska
D
D
Department of Cell and Molecular Biology, Medical College of Georgia, Augusta 30912-2100.
Kutlar
F
F
Wilson
J B
JB
Fei
Y J
YJ
Huisman
T H
TH
D001483:Base Sequence; D002874:Chromosome Mapping; D003062:Codon / Q000235:genetics; D005319:Fetal Hemoglobin / Q000737:chemistry* / Q000235:genetics; D005998:Glycine / Q000235:genetics; D006455:Hemoglobins, Abnormal / Q000737:chemistry* / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008969:Molecular Sequence Data; D009154:Mutation; D013912:Threonine / Q000235:genetics
D003062:Codon; D006455:Hemoglobins, Abnormal; C070264:hemoglobin F Charlotte; D013912:Threonine; D005319:Fetal Hemoglobin; D005998:Glycine