Genetic heterogeneity of beta thalassemia in Lebanon reflects historic and recent population migration

LAUR Repository

Show simple item record

dc.contributor.author Makhoul, N.J.
dc.contributor.author Wells, R.S.
dc.contributor.author Kaspart, H.
dc.contributor.author Shbaklo, H.
dc.contributor.author Taher, A.
dc.contributor.author Chakar, N.
dc.contributor.author Zalloua, P.A.
dc.date.accessioned 2019-07-25T07:24:52Z
dc.date.available 2019-07-25T07:24:52Z
dc.date.copyright 2005 en_US
dc.identifier.issn 1469-1809 en_US
dc.identifier.uri http://hdl.handle.net/10725/11139
dc.description.abstract Beta thalassemia is an autosomal recessive disorder characterized by reduced (β+) or absent (β0) beta‐globin chain synthesis. In Lebanon it is the most predominant genetic defect. In this study we investigated the religious and geographic distribution of the β‐thalassemia mutations identified in Lebanon, and traced their precise origins. A total of 520 β‐globin chromosomes from patients of different religious and regional backgrounds was studied. Beta thalassemia mutations were identified using Amplification Refractory Mutation System (ARMS) PCR or direct gene sequencing. Six (IVS‐I‐110, IVS‐I‐1, IVS‐I‐6, IVS‐II‐1, cd 5 and the C>T substitution at cd 29) out of 20 β‐globin defects identified accounted for more than 86% of the total β‐thalassemia chromosomes. Sunni Muslims had the highest β‐thalassemia carrier rate and presented the greatest heterogeneity, with 16 different mutations. Shiite Muslims followed closely with 13 mutations, whereas Maronites represented 11.9% of all β‐thalassemic subjects and carried 7 different mutations. RFLP haplotype analysis showed that the observed genetic diversity originated from both new mutational events and gene flow from population migration. This study provides information about the types and distribution of β‐thalassemia mutations within each religious group and geographic region, which is essential for the implementation of screening and prevention programs. en_US
dc.language.iso en en_US
dc.title Genetic heterogeneity of beta thalassemia in Lebanon reflects historic and recent population migration en_US
dc.type Article en_US
dc.description.version Published en_US
dc.author.school SOM en_US
dc.author.idnumber 2003001 en_US
dc.author.department N/A en_US
dc.description.embargo N/A en_US
dc.relation.journal Annals of Human Genetics en_US
dc.journal.volume 69 en_US
dc.journal.issue 1 en_US
dc.article.pages 55-66 en_US
dc.identifier.doi https://doi.org/10.1046/j.1529-8817.2004.00138.x en_US
dc.identifier.ctation Makhoul, N. J., Wells, R. S., Kaspar, H., Shbaklo, H., Taher, A., Chakar, N., & Zalloua, P. A. (2005). Genetic heterogeneity of Beta thalassemia in Lebanon reflects historic and recent population migration. Annals of human genetics, 69(1), 55-66. en_US
dc.author.email pierre.zalloua@lau.edu.lb en_US
dc.identifier.tou http://libraries.lau.edu.lb/research/laur/terms-of-use/articles.php en_US
dc.identifier.url https://onlinelibrary.wiley.com/doi/full/10.1046/j.1529-8817.2004.00138.x en_US
dc.orcid.id https://orcid.org/0000-0002-8494-5081 en_US
dc.author.affiliation Lebanese American University en_US

Files in this item

Files Size Format View

There are no files associated with this item.

This item appears in the following Collection(s)

Show simple item record

Search LAUR

Advanced Search


My Account