title: Haplotype map of sickle cell anemia in Tunisia.
abstract: β-Globin haplotypes are important to establish the ethnic origin and predict the clinical development of sickle cell disease patients (SCD). To determine the chromosomal background of β (S) Tunisian sickle cell patients, in this first study in Tunisia, we have explored four polymorphic regions of β-globin cluster on chromosome 11. It is the 5' region of β-LCR-HS2 site, the intervening sequence II (IVSII) region of two fetal ((G)γ and (A)γ) genes and the 5' region of β-globin gene. The results reveal a high molecular diversity of a microsatellite configuration describing the sequences haplotypes. The linkage disequilibrium analysis showed various haplotype combinations giving 22 "extended haplotypes". These results confirm the utility of the β-globin haplotypes for population studies and contribute to knowledge of the Tunisian gene pool, as well as establishing the role of genetic markers in physiopathology of SCD.
authors.affiliation: Laboratory of Molecular and Cellular Hematology, Pasteur Institute of Tunis, El Belvedere, 1002 Tunis, Tunisia.
authors.forename: Imen
authors.identifier: 0000-0003-0914-3916
authors.initials: I
authors.lastname: Moumni
authors.affiliation: Laboratory of Molecular and Cellular Hematology, Pasteur Institute of Tunis, El Belvedere, 1002 Tunis, Tunisia.
authors.forename: Maha
authors.initials: M
authors.lastname: Ben Mustapha
authors.affiliation: Laboratory of Molecular and Cellular Hematology, Pasteur Institute of Tunis, El Belvedere, 1002 Tunis, Tunisia.
authors.forename: Sarra
authors.identifier: 0000-0001-9660-8739
authors.initials: S
authors.lastname: Sassi
authors.affiliation: Laboratory of Molecular and Cellular Hematology, Pasteur Institute of Tunis, El Belvedere, 1002 Tunis, Tunisia.
authors.forename: Amine
authors.initials: A
authors.lastname: Zorai
authors.affiliation: Laboratory of Molecular and Cellular Hematology, Pasteur Institute of Tunis, El Belvedere, 1002 Tunis, Tunisia.
authors.forename: Ikbel
authors.initials: I
authors.lastname: Ben Mansour
authors.affiliation: Laboratory of Molecular and Cellular Hematology, Pasteur Institute of Tunis, El Belvedere, 1002 Tunis, Tunisia.
authors.forename: Kais
authors.identifier: 0000-0002-9697-5667
authors.initials: K
authors.lastname: Douzi
authors.affiliation: Laboratory of Molecular and Cellular Hematology, Pasteur Institute of Tunis, El Belvedere, 1002 Tunis, Tunisia.
authors.forename: Dorra
authors.initials: D
authors.lastname: Chouachi
authors.affiliation: Service d'Immuno-Hématologie Pédiatrique, Centre National de Greffe de Moelle Osseuse, Tunis, Tunisia.
authors.forename: Fethi
authors.initials: F
authors.lastname: Mellouli
authors.affiliation: Service d'Immuno-Hématologie Pédiatrique, Centre National de Greffe de Moelle Osseuse, Tunis, Tunisia.
authors.forename: Mohamed
authors.initials: M
authors.lastname: Bejaoui
authors.affiliation: Laboratory of Molecular and Cellular Hematology, Pasteur Institute of Tunis, El Belvedere, 1002 Tunis, Tunisia.
authors.forename: Salem
authors.initials: S
authors.lastname: Abbes
mesh_terms: D000293:Adolescent; D000755:Anemia, Sickle Cell / Q000235:genetics*; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics; D005819:Genetic Markers; D006239:Haplotypes; D006801:Humans; D015810:Linkage Disequilibrium; D012150:Polymorphism, Restriction Fragment Length; D014416:Tunisia; D055544:beta-Globins / Q000235:genetics*
chemical_list: D005819:Genetic Markers; D055544:beta-Globins