Hb Mont Saint Aignan [beta 128(H6)Ala -> Pro]: A new unstable variant leading to chronic microcytic anemia

Authors
Wajcman, H Lahary, A Prome, D Kister, J Riou, J Godart, C Prehu, C Traeger-Synodinos, J Papassotiriou, I Galacteros, F
Citation
H. Wajcman et al., Hb Mont Saint Aignan [beta 128(H6)Ala -> Pro]: A new unstable variant leading to chronic microcytic anemia, HEMOGLOBIN, 25(1), 2001, pp. 57-65
Citations number
17
Categorie Soggetti
Biochemistry & Biophysics
Journal title
HEMOGLOBIN
ISSN journal
03630269 → ACNP
Volume
25
Issue
1
Year of publication
2001
Pages
57 - 65
Database
ISI
SICI code
0363-0269(2001)25:1<57:HMSA[1>2.0.ZU;2-T
Abstract
Hb Mont Saint-Aignan [beta 128(H6)Ala --> Pro] is a mildly unstable variant , associated with hemolytic anemia, marked microcytosis and increased alp b iosynthetic ratio (1.55 versus 1.1 +/-0.1 in the control). The abnormal cha in was isolated by selective precipitation with isopropanol and the structu ral modification determined by protein chemistry methods (reversed phase hi gh performance liquid chromatography and mass spectrometry). Possible mecha nisms underlying the beta (+)-thalassemia-like expression of this variant a re discussed.