Multidisciplinary approach to management of patients with hereditary spherocytosis. Clinical observation

Cover Page

Cite item

Full Text

Open Access Open Access
Restricted Access Access granted
Restricted Access Subscription or Fee Access

Abstract

Hereditary spherocytosis (HS) is a hemolytic anemia developing due to genetically induced defect in the erythrocyte membrane causing change in its shape. According to the results of studies, defects in the associated membrane proteins are caused by key mutations in the SLC4A1, EPB42, SPTA1, SPTB and ANK1 genes. The same mutation in different parts of a gene can lead to different clinical manifestations, therefore the studies of correlations between genotype and phenotype are necessary. Absence of wide availability, 100 % sensitivity and specificity of the laboratory methods used, as well as familial medical history in some cases, in conjunction with non-conformance with the clinical picture can lead to errors in HS diagnosis. Therefore, multidisciplinary approach is necessary. Progress in molecular biology led to development of next-generation sequencing which can aid in identification of new gene variants, analysis of their structure and potential pathogenicity. This will allow to significantly improve diagnostics and apply personalized treatment of HS.

The article presents results of clinical and diagnostic observation of a 45-year-old female patient whose condition due to hemolytic crisis determined the necessity of using comprehensive approach to therapy on an urgent basis in conjunction with differential diagnostic search and identification of the cause of anemia.

About the authors

Y. E. Ryabukhina

Clinical Hospital “Lapino” of the “Mother and Child” Group of companies

Author for correspondence.
Email: gemonk.yur@mail.ru
ORCID iD: 0000-0001-8443-8816
Russian Federation, 111 1st Uspenskoe Shosse, Lapino, Moscow region 143081

P. A. Zeynalova

Clinical Hospital “Lapino” of the “Mother and Child” Group of companies; I.M. Sechenov First Moscow State Medical University, Ministry of Health of Russia (Sechenov University)

Email: gemonk.yur@mail.ru
ORCID iD: 0000-0003-1564-424X

Department of Oncology

Russian Federation, 111 1st Uspenskoe Shosse, Lapino, Moscow region 143081; Build. 2, 8 Trubetskaya St., Moscow 119048

References

  1. Bolton-Maggs P.H.B., Langer J.C., Iolascon A. et al. Guidelines for the diagnosis and management of hereditary spherocytosis – 2011 update. Br J Haematol 2012;156(1):37–49. doi: 10.1111/j.1365-2141.2011.08921.x
  2. Delaunay J. Molecular basis of red cell membrane disorders. Acta Haematol 2002;108(4):210–8. doi: 10.1159/000065657
  3. He M., Lv Y.C., Wei Y.H. et al. Complex heterozygous mutations in hereditary spherocytosis: a case report. World J Clin Cases 2024;12(18):3582–8. doi: 10.12998/wjcc.v12.i18.3582
  4. Li X., Zhang T., Li X. et al. Identification of a novel SPTB gene splicing mutation in hereditary spherocytosis: a case report and diagnostic insights. Front Genet 2025;15:1522204. doi: 10.3389/fgene.2024.1522204
  5. Xue J., He Q., Xie X. et al. Clinical utility of targeted gene enrichment and sequencing technique in the diagnosis of adult hereditary spherocytosis. Ann Transl Med 2019;7(20):527. doi: 10.21037/atm.2019.09.163
  6. Van Vuren A., van der Zwaag B., Huisjes R. et al. The complexity of genotype phenotype correlations in hereditary spherocytosis: a cohort of 95 patients: genotype-phenotype correlation in hereditary spherocytosis. Hemasphere 2019;3(4):e276. doi: 10.1097/HS9.0000000000000276
  7. Tole S., Dhir P., Pugi J. et al. Genotype-phenotype correlation in children with hereditary spherocytosis. Br J Haematol 2020;191(3):486–96. doi: 10.1111/bjh.16750
  8. Ramjist J.K., Dubljevic T., Lapidus-Krol E. et al. Correlation of genetic mutation with outcomes in children with hereditary spherocytosis undergoing partial splenectomy: a multicentre study. J Pediatr Surg 2025;60(4):162229. doi: 10.1016/j.jpedsurg.2025.162229
  9. Qin L., Jia Y., Wang H. et al. Identification of novel variants in hereditary spherocytosis patients by whole-exome sequencing. Clin Chim Acta 2025;565:119989. doi: 10.1016/j.cca.2024.119989
  10. Kuzminova J.A., Plyasunova S.A., Jogov V.V., Smetanina N.S. The cytometric technique of binding of eosin-5-maleimide in diagnostic of inherent spherocytosis. Klinicheskaya i laboratornaya diagnostika = Russian Clinical Laboratory Diagnostics 2016;61(3):168–72. (In Russ.). doi: 10.18821/0869-2084-2016-61-3-168-172
  11. Hereditary spherocytosis. Clinical guidelines. 2025. Available at: https://diseases.medelement.com/disease/наследственный-сфероцитоз-кп-рф-2025/18987 (In Russ.)
  12. Vasilchenkova P.I., Galtseva I.V., Lukina E.A. autoimmune hemolytic anemia: the current state of the issue. Onkogematologiya = Oncohematology 2023;18(2):60–7. (In Russ.). doi: 10.17650/1818-8346-2023-18-2-60-67
  13. Berentsen S., Sundic T. Red blood cell destruction in autoimmune hemolytic anemia: role of complement and potential new targets for therapy. Bio Med Res Int 2015;2015:363278. doi: 10.1155/2015/363278
  14. Kuzminova Z.A., Smetanina N.S. Autoimmune haemolytic anaemia: modern diagnosis and therapy. Voprosy gematologii/onkologii i imunopatologii v pediatrii = Pediatric Hematology/Oncology and Immunopathology 2016;15(3):5–11. (In Russ.). doi: 10.24287/1726-1708-2016-15-3-5-11
  15. Feoktistova E.P., Naumova I.N., Tsvetaeva N.V. et al. Differential diagnosis of hemolytic anemias with spherocytosis. Gematologiya i transfusiologiya = Russian Journal of Hematology and Transfusiology 2020;65(1):232. (In Russ.).
  16. Savchenko V.G., Lukina E.A., Mikhaylova E.A. et al. Clinical guidelines for the management of patients with paroxysmal nocturnal hemoglobinuria. Gematologiya i transfuziologiya = Russian Journal of Hematology and Transfusiology 2022;67(3):426–39. (In Russ.). doi: 10.35754/0234-5730-2022-67-3-426-439
  17. Zenella A., Barcellini W. Treatment of autoimmune hemolytic anemias. Haematologica 2014;99(10):1547–54. doi: 10.3324/haematol.2014.114561
  18. Lechner L., Jäger U. How I treat autoimmune hemolytic anemias in adults. Blood 2010;116(11):1831–8. doi: 10.1182/blood-2010-03-259325
  19. Salama A., Berghofer H., Mueller-Eckhardt C. Red blood cell transfusion in warm-type autoimmune haemolytic anaemia. Lancet 1992;340(8834–8835):1515–7. doi: 10.1016/0140-6736(92)92766-9
  20. Koury M.J., Ponka P. New insights into erythropoiesis: the roles of folate, vitamin B12, and iron. Annu Rev Nutr 2004;24:105–31. doi: 10.1146/annurev.nutr.24.012003.132306
  21. Choi H.S., Choi Q., Kim J.A. et al. Molecular diagnosis of hereditary spherocytosis by multi-gene target sequencing in Korea: matching with osmotic fragility test and presence of spherocyte. Orphanet J Rare Dis 2019;14(1):114. doi: 10.1186/s13023-019-1070-0

Supplementary files

Supplementary Files
Action
1. JATS XML
Download

Copyright (c) 2026 ABV-Press

Creative Commons License
This work is licensed under a Creative Commons Attribution 4.0 International License.
СМИ зарегистрировано Федеральной службой по надзору в сфере связи, информационных технологий и массовых коммуникаций (Роскомнадзор).
Регистрационный номер и дата принятия решения о регистрации СМИ: серия ПИ № ФС 77-81466 от  03.08.2021.