Two new (G)gamma chain variants: Hb F-Clamart [gamma 17(A14)Lys -> Asn] and Hb F-Ouled Rabah [gamma 19(B1)Asn -> Lys]

Citation
H. Wajcman et al., Two new (G)gamma chain variants: Hb F-Clamart [gamma 17(A14)Lys -> Asn] and Hb F-Ouled Rabah [gamma 19(B1)Asn -> Lys], HEMOGLOBIN, 24(1), 2000, pp. 45-52
Citations number
7
Categorie Soggetti
Biochemistry & Biophysics
Journal title
HEMOGLOBIN
ISSN journal
03630269 → ACNP
Volume
24
Issue
1
Year of publication
2000
Pages
45 - 52
Database
ISI
SICI code
0363-0269(2000)24:1<45:TN(CVH>2.0.ZU;2-4
Abstract
Two new fetal hemoglobin variants affecting the (G)gamma chain are reported . Hb F-Clamart was found during investigation of a French newborn who prese nted with a mild microcytemia. The second variant was found during neonatal screening for hemoglobinopathies of 30,000 babies from a population-at-ris k living in the Paris region. It was named Hb F-Ouled Rabah because its str uctural modification and ethnic distribution is similar to that of Hb D-Oul ed Rabah [beta 19(B1)Asn-->Lys]. Hb F-Ouled Rabah is clinically silent and occurs at a frequency of cn. 0.1% in newborns originating from Maghreb. Str uctural characterization of both variants was done by protein chemistry met hods, including amino acids analysis and mass spectrometry.