Incidence of Alpha-Globin Gene Defect in the Lebanese Population: A Pilot Study

الملخص EN

Background.

It is well established that the Mediterranean and Arab populations are at high risk for thalassemias in general and for alpha-thalassemia in particular.

Yet, reports on alpha-thalassemia in Lebanon are still lacking.

In this study, we aim at assessing the incidence of alpha-thalassemia in the Lebanese population.

Methods.

230 newborns’ dried blood cards remaining from routine neonatal screening at the American University of Beirut Medical Center were collected for DNA extraction.

Samples were screened for the 21 most common α-globin deletions and point mutations reported worldwide, through multiplex Polymerase Chain Reaction (PCR) and Reverse-Hybridization technique.

Results.

Upon analyses, the carrier rate of α-thalassemia was found to be 8%.

Two mutations detected the −α3,7 single gene deletion found in 75% of cases and the nongene deletion α2 IVS1 [−5nt] in the remaining samples.

Conclusion.

This study is the first dedicated to investigate α-thalassemia trait incidence in Lebanon.

Data obtained demonstrates a high carrier rate in a relatively, highly consanguineous population; it also highlighted the presence of two common mutations.

These results may be of an important impact on premarital and newborn screening policies in our country.