Article
Accurate and rapid prenatal diagnosis of the most frequent East Mediterranean beta-thalassemia mutations.
American journal of hematology - 1 Apr 2004
Naja R P, Kaspar H, Shbaklo H, Chakar N, Makhoul N J, Zalloua P A
Abstract excerpt
Beta-thalassemia is the most common genetic disorder in the Lebanese population. Of the 200 different mutations in the beta-globin gene that leads to thalassemia, the IVSI-110 (29.87%), IVSI-6 (20.74%), IVSI-1 (14.07%), IVSII-1 (9.13%), Cd29 (9.13%), and Cd30 (3.95%) mutations are the most frequent among Lebanese thalassemic patients. These mutations are also present at high frequencies in the East Mediterranean...
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