Rare unstable hemoglobin Hakkari in Russia: a case report and literature review

Abstract

Here we report the first case of unstable hemoglobin Hakkari identified in Russia to our knowledge. It was diagnosed in a two-year-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 similarities and differences in the clinical and laboratory course of the disease. The patient's parents gave their consent to the use of their child's data, including photographs, for research purposes and in publications.