First observation of Hb Ullevaal [β78(EF2) Leu>Val] in Turkey
نویسندگان
چکیده
So far, more than 800 mutations involving the beta-globin gene have been characterized worldwide. Most of these variants are also carried by patients with Turkish origin, since Turkey is one of the hotspot regions for mutations of the globin genes.1 In the present study, we report a case with an unusual high-performance liquid chromatography (HPLC) pattern who turned out to be a carrier of the 78(EF2) Leu>Val; HBB: c.235 C>G mutation. This mutation is previously unreported in Turkish individuals.
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