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

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
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article

Russia’s first identified case of abnormal Hemoglobin Kansas with low oxygen affinity, a rare cause of cyanosis

M. V. Krasilnikova, S. G. Mann, N. A. Karamjan, V.A. Voropayeva et al.
PEDIATRIA Journal named after G N SPERANSKY
Autopsy Techniques and Outcomes
article

Russia’s first identified case of abnormal Hemoglobin Kansas with low oxygen affinity, a rare cause of cyanosis

M. V. Krasilnikova, S. G. Mann, N. A. Karamjan, V.A. Voropayeva, Е. А. Литвин
article en

Abstract

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.

PEDIATRIA Journal named after G N SPERANSKYVol. 104(1)
Openalex Percentile: Top 95%
Autopsy Techniques and Outcomes
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Russia’s first identified case of abnormal Hemoglobin Kansas with low oxygen affinity, a rare cause of cyanosis — M. V. Krasilnikova, S. G. Mann, et al. · PEDIATRIA Journal named after G N SPERANSKY (2025) | TGRS Research Map | TGRS