
doi: 10.1002/pbc.25242
pmid: 25284125
BackgroundHemoglobinopathies are the most common reported monogenic disorders worldwide. It is well established that Mediterranean and Arab countries are high risk areas for thalassemia in general, and for alpha thalassemia in particular. Reports of alpha thalassemia gene mutations from the Lebanese population are limited.ProcedureWe investigated the spectrum of alpha thalassemia mutations in a sample of 70 unrelated Lebanese families. Six different mutations of alpha thalassemia gene were identified.ResultsThe most prevalent mutations were the single gene deletion −α3.7 (43%) and the non‐gene deletion α2 IVS1 [–5nt] (37%). The double deletional determinant –MED was detected only in 14% of thalassemic chromosomes.ConclusionWe determined the mutational spectrum of alpha thalassemia which might be used in the future for molecular investigations of the disease in susceptible patients in our population. Pediatr Blood Cancer 2015;62:120–122. © 2014 Wiley Periodicals, Inc.
Male, Prognosis, Polymerase Chain Reaction, Gene Frequency, alpha-Globins, alpha-Thalassemia, Mutation, Humans, Family, Female, Lebanon, Follow-Up Studies, Retrospective Studies
Male, Prognosis, Polymerase Chain Reaction, Gene Frequency, alpha-Globins, alpha-Thalassemia, Mutation, Humans, Family, Female, Lebanon, Follow-Up Studies, Retrospective Studies
| selected citations These citations are derived from selected sources. This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically). | 10 | |
| popularity This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network. | Top 10% | |
| influence This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically). | Average | |
| impulse This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network. | Average |
