HB F-SASSARI - A NOVEL (G)GAMMA VARIANT WITH A THREONINE RESIDUE AT POSITION GAMMA-75, CHARACTERIZED BY MASS-SPECTROMETRIC TECHNIQUES

Authors
FERRANTI P BARONE F PUCCI P MALORNI A MARINO G PILO G MANCA L MASALA B
Citation
P. Ferranti et al., HB F-SASSARI - A NOVEL (G)GAMMA VARIANT WITH A THREONINE RESIDUE AT POSITION GAMMA-75, CHARACTERIZED BY MASS-SPECTROMETRIC TECHNIQUES, Hemoglobin, 18(4-5), 1994, pp. 307-315
Citations number
17
Categorie Soggetti
Biology,Hematology
Journal title
Hemoglobin → ACNP
ISSN journal
03630269
Volume
18
Issue
4-5
Year of publication
1994
Pages
307 - 315
Database
ISI
SICI code
0363-0269(1994)18:4-5<307:HF-AN(>2.0.ZU;2-A
Abstract
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 characteriz ed by means of electrospray and fast atom bombardment mass spectrometr ic techniques as a (G) gamma-globin variant with an Ile->Thr substitut ion at position gamma 75. The variant chain shows the same structure a s the previously described Hb F-Charlotte that was demonstrated to be an (A) gamma variant with an Ile->Thr substitution at position gamma 7 5 and an additional Ala->Gly substitution at gamma 136.