title: Geographic distribution of 119 alleles of the alpha and beta globin genes detected in 432 French Caucasian carriers of haemoglobin variant.
abstract: The French population is the result of mixing of different peoples including the Celts, Saxons, Germans, Italians and Hispanics. Between 1981 and 1993 patients were selected during investigations in France for haematological disorders associated or otherwise with the presence of a haemoglobin (Hb) variant. Further carriers of abnormal Hb were identified by HPLC measurement of glycated Hb in diabetics and by neonatal screening. Four-hundred and thirty-two subjects were found to be heterozygous for one of the 119 different alpha and the beta gene alleles encountered. These variants were characterised by a combination of 6 electrophoretic methods and in some cases by protein structure determinations. Some mutants reflected the population movements in and into France. A few mutants are frequently described in the French Caucasian population: Hb Lepore Boston, Hb D Punjab, whereas others appear to be anthropological markers. Hb Winnipeg has only been found in the West of France (Normandy); Hb J Baltimore is mainly found in French subjects of Spanish origin. Several cases of sporadic and previously undescribed mutations of Hb were identified. The last immigration waves from Africa and Asia appear to have contributed to the evolution of the pattern of haemoglobinopathies in the French population (Hb S, Hb O Arab or Hb C).
authors.affiliation: Inserm U.91, Hôpital Henri-Mondor, Créteil, France.
authors.forename: B
authors.initials: B
authors.lastname: Chami
authors.forename: F
authors.initials: F
authors.lastname: Braconnier
authors.forename: J
authors.initials: J
authors.lastname: Riou
authors.forename: J
authors.initials: J
authors.lastname: Bardakdjian-Michau
authors.forename: C
authors.initials: C
authors.lastname: Préhu
authors.forename: Y
authors.initials: Y
authors.lastname: Blouquit
authors.forename: J
authors.initials: J
authors.lastname: Rosa
authors.forename: H
authors.initials: H
authors.lastname: Wajcman
authors.forename: F
authors.initials: F
authors.lastname: Galactéros
mesh_terms: D000483:Alleles; D005602:France; D005787:Gene Frequency; D005914:Globins / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D017354:Point Mutation; D044465:White People
chemical_list: D006455:Hemoglobins, Abnormal; D005914:Globins