Article
Molecular diagnosis of α-thalassemia in a multiethnic population.
European journal of haematology - 1 Jun 2017
Gilad Oded, Shemer Orna Steinberg, Dgany Orly, Krasnov Tanya, Nevo Michal, Noy-Lotan Sharon, Rabinowicz Ron, Amitai Nofar, Ben-Dor Shifra, Yaniv Isaac, Yacobovich Joanne, Tamary Hannah
Abstract excerpt
OBJECTIVE: α-Thalassemia, one of the most common genetic diseases, is caused by deletions or point mutations affecting one to four α-globin genes. Molecular diagnosis is important to prevent the most severe forms of the disease. However, the diagnosis of α-thalassemia is complex due to a high variability of the genetic defects involved, with over 250 described mutations. We summarize herein the findings of...
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