Clinical and molecular aspects of haemoglobinopathies in Tunisia.

Background: For the last two decades, studies on the population genetics of Tunisians have focused on variations of protein and genetic markers. Results confirmed the genetic heterogeneity of Tunisians caused by the admixtures with migratory human groups arriving mainly from Africa, Europe, and Asia. These studies also allowed the screening of rare mutants and many haemoglobin variants.

Methods: The present study delineates the incidence of the different haemoglobinopathies in Tunisia. Previously collected data and results obtained from epidemiological and clinical studies of 1238 blood donors and 276 patients were compared. The chromosomal backgrounds of different haemoglobinopathies were explored by molecular techniques (denaturing gradient gel electrophoresis (DGGE), amplification refractory mutation system (ARMS) polymerase chain reaction (PCR), and sequencing).

Results: This study indicates that appropriate DNA methodologies required for a nationwide preventive program in Tunisia are available and that prenatal diagnosis is feasible. Additionally, analysis of sequence polymorphisms allowed a better understanding of the gene recombination events and their application for tracing back the origin and the diffusion of the mutations.

Conclusions: Molecular analysis techniques such as DGGE and ARMS PCR are socially and economically the most suitable techniques to be used in Tunisia for the detection and the identification of haemoglobin abnormalities. At present, their use is essential to conduct a clear and efficient screening program.