Haplotype Map of Sickle Cell Anemia in Tunisia

Abstract EN

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 βS 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 (γG and γA) 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.