Russia’s first identified case of abnormal Hemoglobin Kansas with low oxygen affinity, a rare cause of cyanosis
Diagnosis of rare causes of cyanosis is if a certain difficulty. A clinical case report of cyanosis caused by the presence of abnormal Hemoglobin (Hb) Kansas with reduced oxygen affinity is presented. This is the Russia’s first detected and recorded case in a Russian child with cyanosis and mild anemia. As a result of routine examination using capillary electrophoresis and high-performance liquid chromatography, a pathological fraction of Hb was detected. Molecular genetic research according to Sanger determined a mutation in codon 102 of the β-globin gene with the replacement of aspartic acid with threonine, corresponding to rare abnormal Hb Kansas with reduced oxygen affinity.
Authors
- M. V. Krasilnikova (ORCID: https://orcid.org/0000-0002-0929-4792)
- S. G. Mann (ORCID: https://orcid.org/0000-0002-1014-5196)
- N. A. Karamjan (ORCID: https://orcid.org/0000-0002-9865-527X)
- V.A. Voropayeva (ORCID: https://orcid.org/0000-0002-1099-3259)
- Е. А. Литвин (ORCID: https://orcid.org/0000-0002-6331-5339)
Publication Details
- Journal
- PEDIATRIA Journal named after G N SPERANSKY
- Published
- 2025-02-20
- DOI
- https://doi.org/10.24110/0031-403x-2025-104-1-133-137
- Primary Topic
- Autopsy Techniques and Outcomes
- Type
- article
- Field-Weighted Citation Impact
- 0.00