Two new Ggamma chain variants: Hb F-clamart [gamma17(A14)Lys-->Asn] and Hb F-Ouled Rabah [gamma19(B1)Asn-->Lys].
Two new fetal hemoglobin variants affecting the Ggamma chain are reported. Hb F-Clamart was found during investigation of a French newborn who presented with a mild microcytemia. The second variant was found during neonatal screening for hemoglobinopathies of 30,000 babies from a population-at-risk living in the Paris region. It was named Hb F-Ouled Rabah because its structural modification and ethnic distribution is similar to that of Hb D-Ouled Rabah [beta19(B1)Asn-->Lys]. Hb F-Ouled Rabah is clinically silent and occurs at a frequency of ca. 0.1% in newborns originating from Maghreb. Structural characterization of both variants was done by protein chemistry methods, including amino acids analysis and mass spectrometry.
Wajcman
H
H
INSERM U 468 and Service de Biochimie Hôpital Henri Mondor, Creteil, France. wajcman@im3.inserm.fr
Borensztajn
K
K
Riou
J
J
Promé
D
D
Hurtrel
D
D
Bardakdjian
J
J
Léna-Russo
D
D
Amouroux
I
I
Ducrocq
R
R
D000352:Africa, Northern / Q000208:ethnology; D000462:Algeria / Q000208:ethnology; D019943:Amino Acid Substitution; D002851:Chromatography, High Pressure Liquid; D005192:Family Health; D005319:Fetal Hemoglobin / Q000737:chemistry* / Q000235:genetics*; D005602:France / Q000453:epidemiology / Q000208:ethnology; D014644:Genetic Variation; D005914:Globins / Q000737:chemistry* / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000737:chemistry* / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D008970:Molecular Weight; D009018:Morocco / Q000208:ethnology; D015997:Neonatal Screening; D014416:Tunisia / Q000208:ethnology; D017085:alpha-Thalassemia / Q000235:genetics
D006455:Hemoglobins, Abnormal; C406706:hemoglobin F Clamart; C406705:hemoglobin F Ouled Rabah; D005914:Globins; D005319:Fetal Hemoglobin