Abstract:Here we report the first case of unstable hemoglobin Hakkari identified in Russia to our knowledge. It was diagnosed in a twoyear- old Russian boy with severe transfusion-dependent anemia caused by a de novo mutation in the b-globin gene [b31(B13) Leu→Arg, HBB: c.95T>G]. Routine diagnostic methods were not effective, and his diagnosis was not established until gene sequencing of the globin gene was performed. A comparative analysis of all known cases of unstable Hb Hakkari allows for the identification of s… Show more
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