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

نویسندگان

چکیده

Here we report the first case of unstable hemoglobin Hakkari identified in Russia to our knowledge. It was diagnosed a two-year-old Russian boy with severe transfusion-dependent anemia caused by de novo mutation b-globin gene [b31(B13) Leu→Arg, HBB: c.95T>G]. Routine diagnostic methods were not effective, and his diagnosis established until sequencing globin performed. A comparative analysis all known cases Hb allows for identification similarities differences clinical laboratory course disease. The patient's parents gave their consent use child's data, including photographs, research purposes publications.

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ژورنال

عنوان ژورنال: Voprosy gematologii/onkologii i immunopatologii v pediatrii

سال: 2022

ISSN: ['1726-1708', '2414-9314']

DOI: https://doi.org/10.24287/1726-1708-2022-21-3-77-83