title: Foetal haemoglobin in normal healthy adults: relationship with polymorphic sequences cis to the beta globin gene.
abstract: We evaluated the effects of polymorphic markers within the beta globin gene cluster on HbF expression in two groups. These groups were randomly selected from a survey of HbF distribution in a large population study of unrelated healthy Algerian adults (n=827). The first group contained individuals with normal HbF levels (0.1-0.5%) and the second group contained individuals with raised HbF levels (0.8-2.3%). Of the various polymorphic markers analysed, only the -309 G gamma A-->G, the -158 G gamma C-->T, the G gamma IVS2 TC (TG)(9) AG (TG)(2) (CG)(2) and the -540 beta (AT)(9) T(5) sequence configurations were significantly associated with increased HbF levels. More than 84% of the subjects with elevated HbF levels carried one or several of these four marker configurations, suggesting that the beta globin gene cluster exerts a significant effect on HbF expression in healthy individuals.
authors.affiliation: Institut National de la Santé et de la Recherche Médicale, Unité 458, Hôpital Robert Debré, 48 boulevard Sérurier, 75019 Paris, France.
authors.forename: Samia
authors.initials: S
authors.lastname: Zertal-Zidani
authors.forename: Rolande
authors.initials: R
authors.lastname: Ducrocq
authors.forename: Mourad
authors.initials: M
authors.lastname: Sahbatou
authors.forename: Dalila
authors.initials: D
authors.lastname: Satta
authors.forename: Rajagopal
authors.initials: R
authors.lastname: Krishnamoorthy
mesh_terms: D000293:Adolescent; D000328:Adult; D005260:Female; D005319:Fetal Hemoglobin / Q000235:genetics* / Q000378:metabolism; D005819:Genetic Markers; D005914:Globins / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic; D011401:Promoter Regions, Genetic
chemical_list: D005819:Genetic Markers; D005914:Globins; D005319:Fetal Hemoglobin