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Disease Markers
Volume 2014, Article ID 938301, 7 pages
Research Article

Haplotype Map of Sickle Cell Anemia in Tunisia

1Laboratory of Molecular and Cellular Hematology, Pasteur Institute of Tunis, El Belvedere, 1002 Tunis, Tunisia
2Service d’Immuno-Hématologie Pédiatrique, Centre National de Greffe de Moelle Osseuse, Tunis, Tunisia

Received 18 February 2014; Accepted 11 June 2014; Published 2 July 2014

Academic Editor: Olav Lapaire

Copyright © 2014 Imen Moumni et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


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 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 ( and ) 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.