Article
Novel mutations responsible for α-thalassemia in Iranian families.
Hemoglobin - 1 Jan 2013
Bayat Nooshin, Farashi Samaneh, Hafezi-Nejad Nima, Faramarzi Negin, Ashki Mehri, Vakili Shadi, Imanian Hashem, Khosravi Mohsen, Azar-Keivan Azita, Najmabadi Hossein
Abstract excerpt
α-Thalassemia (α-thal) is usually caused by deletions on the α-globin gene cluster and the role of point mutations is less well investigated. In the present study, a total of 1048 individuals with hypochromic microcytic anemia, who did not present the most common α-thal deletions, were referred for α-globin gene DNA sequencing. The nucleotide changes were studied and a total of five new mutations was identified,...
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