Non-spherocytic hemolytic anemia caused by erythrocyte pyruvate kinase defiiency: the analysis of genetic defects in pediatric patients, living in Russian Federation

E. A. Cherniak; Черняк Е. А.; N. E. Sokolova; Соколова Н. Е.; K. V. Semiglazova; Семиглазова К. В.; I. N. Lavrentyeva; Лаврентьева И. Н.; E. K. Donush; Донюш Е. К.; O. I. Plaksina; Плаксина О. И.; M. V. Borisova; Борисова М. В.; N. A. Danilyuk; Данилюк Н. А.; E. S. Mitrofanova; Митрофанова Е. С.; I. P. Baturskaya; Батурская И. П.; N. G. Revina; Ревина Н. Г.; T. I. Burlutskaya; Бурлуцкая Т. И.; M. A. Rakov; Раков М. А.; A. V. Evstratov; Евстратов А. В.; O. M. Tselousova; Целоусова О. М.; V. V. Lebedev; Лебедев В. В.; N. V. Chaplygina; Чаплыгина Н. В.; I. V. Koryakina; Корякина И. В.; N. S. Osmulskaya; Осмульская Н. С.; E. I. Afanasyeva; Афанасьева Е. И.; O. E. Nikonova; Никонова О. Е.; L. I. Sokolova; Соколова Л. И.; E. Kh. Tsedenisheeva; Цыденешеева Е. Х.; I. M. Yunusova; Юнусова И. М.; E. O. Zauralov; Зауралов Е. О.; I. V. Osipova; Осипова И. В.; K. S. Aslanyan; Асланян К. С.; E. V. Sipacheva; Сипачёва Е. В.; O. P. Boldyreva; Болдырева О. П.; G. R. Kazaryan; Казарян Г. Р.; E. V. Basharova; Башарова Е. В.; S. G. Mann; Манн С. Г.; M. A. Kurnikova; Курникова М. А.; E. V. Raikina; Райкина Е. В.; N. S. Smetanina; Сметанина Н. С.

doi:10.24287/1726-1708-2021-20-2-84-96

Non-spherocytic hemolytic anemia caused by erythrocyte pyruvate kinase defiiency: the analysis of genetic defects in pediatric patients, living in Russian Federation

Authors: Cherniak E.A.¹, Sokolova N.E.², Semiglazova K.V.¹, Lavrentyeva I.N.³, Donush E.K.⁴, Plaksina O.I.⁵, Borisova M.V.⁶, Danilyuk N.A.⁷, Mitrofanova E.S.⁸, Baturskaya I.P.⁹, Revina N.G.¹⁰, Burlutskaya T.I.¹¹, Rakov M.A.¹², Evstratov A.V.¹³, Tselousova O.M.¹⁴, Lebedev V.V.¹⁵, Chaplygina N.V.¹⁶, Koryakina I.V.¹⁷, Osmulskaya N.S.¹⁸, Afanasyeva E.I.¹⁹, Nikonova O.E.²⁰, Sokolova L.I.²¹, Tsedenisheeva E.K.²², Yunusova I.M.²³, Zauralov E.O.²⁴, Osipova I.V.²⁵, Aslanyan K.S.²⁶, Sipacheva E.V.²⁷, Boldyreva O.P.²⁸, Kazaryan G.R.²⁹, Basharova E.V.³⁰, Mann S.G.³¹, Kurnikova M.A.³¹, Raikina E.V.³¹, Smetanina N.S.³¹
Affiliations:
1. Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Ministry of Healthcare of the Russian Federation, Moscow
2. Children's City Multidisciplinary Clinical Specialized Center of High Medical Technologies, Saint-Petersburg
3. Morozov Children’s City Clinical Hospital, Department of Health in Moscow, Moscow
4. Russian Children's Clinical Hospital of the N.I. Pirogov Russian National Research Medical University of Ministry of Healthcare of the Russian Federation, Moscow
5. Regional Children's Clinical Hospital, Nizhny Novgorod
6. Krasnoyarsk Regional Clinical Center for Maternity and Childhood Protection, Perinatal Center, Krasnoyarsk
7. Regional Oncological Dispensary, Penza
8. Children's Regional Clinical Hospital, Tula
9. Amur Regional Children's Clinical Hospital, Blagoveshchensk
10. Regional Children's Clinical Hospital named after P.G. Vyzhletsova, Arkhangelsk
11. Children's Regional Clinical Hospital, Belgorod
12. Regional Children's Hospital, Bryansk
13. Regional Clinical Children's Hospital, Kaluga
14. Kirov Research Institute of Hematology and Blood Transfusion, FMBA of Russia, Kirov
15. Children's Regional Clinical Hospital, Krasnodar
16. Regional Children's Clinical Hospital, Kursk
17. Regional Children's Hospital, Lipetsk
18. Regional Children's Clinical Hospital, Omsk
19. Regional Children's Clinical Hospital, Orenburg
20. Perm Regional Children’s Clinical Hospital, Perm
21. Children's city hospital. Republican Children's Oncohematological Center, Yoshkar-Ola
22. Children's Republican Clinical Hospital, Ulan-Ude
23. N.M. Kuraev Children's Republican Clinical Hospital, Ministry of Healthcare of the Republic of Dagestan, Makhachkala
24. Children's Republican Clinical Hospital, Saransk
25. Regional Children’s Clinical Hospital, Kazan
26. Regional Children's Clinical Hospital, Rostov-on-Don
27. Regional Children's Clinical Hospital, Tambov
28. Regional Clinical Hospital №1, Tyumen
29. Regional Children’s Clinical Hospital, Nizhnevartovsk
30. Regional Children's Clinical Hospital, Chelyabinsk
31. Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Ministry of Healthcare of the Russian Federation, Moscow
Issue: Vol 20, No 2 (2021)
Pages: 84-96
Section: ORIGINAL ARTICLES
Submitted: 20.05.2021
Accepted: 20.05.2021
Published: 20.05.2021
URL: https://hemoncim.com/jour/article/view/510
DOI: https://doi.org/10.24287/1726-1708-2021-20-2-84-96
ID: 510

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Abstract

The article presents retrospective data analysis of a cohort of patients with PKD (n = 41 patients, aged 4 months – 26,5 years, median of age – 5 years 1 month) who were examined at the Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology for unspecifid hereditary hemolytic anemia during the period 2013–2020. The study was approved by the Independent Ethics Committee of the Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology. In all patients, the diagnosis was confimed by Next Generation sequencing (NGS). The homozygous mutations in the PKLR gene were found in 10 patients (24.39%), compound heterozygous mutations in 31 patients (75.61%), 77.78% of them were missense mutations. Gender distribution (male:female) was 1:1.73. At least once transfusion of erythrocyte suspension was required to 40 (97.56%) patients. The minimum age at the time of the debut of transfusion dependence was the fist day of life, the maximum was 4 years. Exchange blood transfusion was performed in 13 children, severe normocytic hyperregenerative anemia with transfusion of red blood cells in the fist days of life was noted in 12 children, at the 1st month of life – in 9 children, at the 2nd month of life – in 8 children, at the 3rd month – in 6 children, at the 5th month – in 2 children, at the 1st year – in 1 child, and 2 children underwent single transfusions on the background of infectious episodes at 3 and 4 years respectively. Splenectomy due to high transfusion dependence was performed in 10 patients: transfusion independence was achieved in 5 patients, in 5 – an increase in the interval between blood transfusions. Median of surgical intervention (9 patients): 7 years 4 months, minimum age – 1 year 4 months, maximum – 14 years 4 months. In total, 36 genotypes were described in 41 patients, among them were: c.1529G>A in 3 patients, c.1137_1139del / c.1456C>T – in 2 patients, c.1079G>A/c.1529G>A in 2 patients, c.1130T>C/c.1456C>T in 2 patients, other genotypes occurred once. Two mutations were the most frequent: c.1456C>T (16.67%) and c.1529G>A (16.67%). 19 (46,34%) of patients had previously not described mutations.

Keywords

hemolytic anemia, pyruvate kinase defiiency, pyruvate kinase, hereditary non-spherocytic anemia, genetic mutations, multicenter study

About the authors

E. A. Cherniak

Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Ministry of Healthcare of the Russian Federation, Moscow

Author for correspondence.
Email: katerina.chernyak@fccho-moscow.ru

Ekaterina A. Cherniak, scientifi co-worker of the department of optimizing of treatment of hematological diseases

1179971, Moscow, Samory Mashela st., 1

Россия

N. E. Sokolova

Children's City Multidisciplinary Clinical Specialized Center of High Medical Technologies, Saint-Petersburg

Россия

K. V. Semiglazova

Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Ministry of Healthcare of the Russian Federation, Moscow

117997, Москва, ул. Саморы Машела, 1

Россия

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