Hb F-Sassari: a novel G gamma variant with a threonine residue at position gamma 75, characterized by mass spectrometric techniques.
The cord blood sample of a Caucasian newborn contained about 40% of an abnormal fetal hemoglobin. The mutated gamma chain was isolated using reversed phase high performance liquid chromatography and characterized by means of electrospray and fast atom bombardment mass spectrometric techniques as a G gamma-globin variant with an Ile-->Thr substitution at position gamma 75. The variant chain shows the same structure as the previously described Hb F-Charlotte that was demonstrated to be an A gamma variant with an Ile-->Thr substitution at position gamma 75 and an additional Ala-->Gly substitution at gamma 136.
Ferranti
P
P
Istituto di Industrie Agrarie, Universita di Napoli, Italia.
Barone
F
F
Pucci
P
P
Malorni
A
A
Marino
G
G
Pilo
G
G
Manca
L
L
Masala
B
B
D002851:Chromatography, High Pressure Liquid; D005312:Fetal Blood / Q000737:chemistry; D005914:Globins / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000737:chemistry* / Q000235:genetics / Q000302:isolation & purification; D006801:Humans; D007231:Infant, Newborn; D007558:Italy; D013058:Mass Spectrometry; D010449:Peptide Mapping; D017354:Point Mutation
D006455:Hemoglobins, Abnormal; C053966:hemoglobin Sassari; D005914:Globins