Anemia of chronic disease in a female patient, heterozygous for H63D HFE gene mutation


DOI: https://dx.doi.org/10.18565/therapy.2022.4.110-114

Bulanova N.A., Panchenkova L.A., Khamidova Kh.A., Karnuta G.G., Zinovieva S.Yu., Yurkova T.E., Khomyakova T.D., Khromova E.S., Popov V.V.

1) G.R. Derzhavin Tambov State University; 2) Clinical Hospital «RZD-Meditsina» named after N.A. Semashko, Moscow; 3) Central State Medical Academy of the Directorate of the President of the Russian Federation, Moscow; 4) A.I. Yevdokimov Moscow State University of Medicine and Dentistry of the Ministry of Healthcare; 5) City Clinical Hospital named after V.V. Veresaev of the Moscow Healthcare Department; 6) Medical Institute of Continuing Education of Moscow State University of Food Production
Abstract. The article presents a clinical case of a combination of anemia of chronic diseases and a heterozygous mutation His63Asp (H63D) of the HFE hemochromatosis gene in a female patient. The observed patient had no clinical signs of hemochromatosis, but hyperferritinemia was observed, and the carriage of the heterozygous mutation His63Asp (H63D) of the HFE hemochromatosis gene was also determined. The heterozygous H63D mutation variant does not confirm the diagnosis of hereditary hemochromatosis, however, its carriers may show a persistent increase relative to the reference values ​​of ferritin levels (>500 ng/ml) and serum transferrin saturation coefficient, which must be taken into account when interpreting laboratory data and making a diagnosis.

Literature


1. Лукина Е.А., Деженкова А.В. Метаболизм железа в норме и при патологии. Клиническая онкогематология. 2015; 4: 355–361. [Lukina E.A., Dezhenkova A.V. Iron metabolism in normal and pathological conditions. Klinicheskaya onkogematologiya = Clinical Oncohematology. 2015; 4: 355–361 (In Russ.)]. https://dx.doi.org/10.21320/2500-2139-2015-8-4-355-361.


2. Осипян Е.Э., Дроздов В.Н., Сереброва С.Ю. с соавт. Роль гепсидина в развитии дефицита железа при хронических заболеваниях и методы фармакологической коррекции анемии. Экспериментальная и клиническая фармакология. 2020; 9: 13–19. [Osipyan E.E., Drozdov V.N, Serebrova S.Yu. et al. The role of hepcidin in the development of iron deficiency in patients with chronic diseases and methods of pharmacological correction of anemia. Eksperimental’naya i klinicheskaya farmakologiya = Experimental and Clinical Pharmacology. 2020; 9: 13–19 (In Russ.)]. https://dx.doi.org/10.30906/0869-2092-2020-83-9-13-19.


3. WHO guideline on use of ferritin concentrations to assess iron status in individuals and populations. 21 April 2020. URL: https://www.who.int/publications/i/item/9789240000124 (date of access – 16.04.2022).


4. Kowdley K.V., Brown K.E., Ahn J., Sundaram V. ACG clinical guideline: Hereditary hemochromatosis. Am J Gastroenterol. 2019; 114(8): 1202–18. https://dx.doi.org/10.14309/ajg.0000000000000315.


5. Соловьева А.В., Кодякова О.В., Никитина И.Н. с соавт. Клинический случай наследственного гемохроматоза. Казанский медицинский журнал. 2018; 6: 998–1003. [Solovieva A.V., Kodyakova O.V., Nikitina I.N. et al. Clinical case of hereditary hemochromatosis. Kazanskiy meditsinskiy zhurnal = Kazan Medical Journal. 2018; 6: 998–1003 (In Russ.)]. https://dx.doi.org/10.17816/KMJ2018-998.


6. Гоник М.И., Жаркова М.С., Киселева О.Ю. с соавт. Пациент 50 лет с впервые выявленным гемохроматозом в терминальной стадии. Российский журнал гастроэнтерологии, гепатологии, колопроктологии. 2021; 1: 64–73. [Gonik M.I., Zharkova M.S., Kiseleva O.Yu. et al. Primary terminal haemochromatosis in a 50 year-old patient. Rossiyskiy zhurnal gastroenterologii, gepatologii, koloproktologii = Russian Journal of Gastroenterology, Hepatology, Coloproctology. 2021; 1: 64–73 (In Russ.)]. https://dx.doi.org/10.22416/1382-4376-2021-31-1-64-73.


7. Sandnes M., Vorland M., Ulvik R.J., Reikvam H. HFE genotype, ferritin levels and transferrin saturation in patients with suspected hereditary hemochromatosis. Genes (Basel). 2021; 12(8): 1162. https://dx.doi.org/10.3390/genes12081162.


About the Autors


Natalia A. Bulanova, Dr. med. habil., associate professor, professor of the Department of hospital therapy, G.R. Derzhavin Tambov State University, associate professor of the Department of emergency medicine, emergency and extreme medicine, Central State Medical Academy of the Directorate of the President of the Russian Federation. Address: 392000, г. Tambov, 93 Sovetskaya Str. E-mail: bulanovanatalia@mtu-net.ru. ORCID: https://orcid.org/0000-0001-7559-7030
Lyudmila A. Panchenkova, Dr. med. habil., professor, professor of the Department of hospital therapy No. 1, A.I. Yevdokimov Moscow State University of Medicine and Dentistry of the Ministry of Healthcare. Address: 127473, Moscow, 20/1 Delegatskaya Str. E-mail: lapanchenkova@mail.ru
Khadizhat A. Khamidova, PhD in Medicine, associate professor of the Department of hospital therapy No. 1, A.I. Yevdokimov Moscow State University of Medicine and Dentistry of the Ministry of Healthcare. Address: 127473, Moscow, 20/1 Delegatskaya Str. E-mail: K.Khamidova@mail.ru. ORCID: https://orcid.org/0000-0001-9558-3613
Galina G. Karnuta, head of the Department of gastroenterology, Clinical Hospital «RZD-Meditsina» named after N.A. Semashko. Address: 109386, Moscow, 23/1 Stavropol`skaya Str. E-mail: info@semashko.com
Svetlana Yu. Zinovieva, doctor at the Department of gastroenterology, Clinical Hospital «RZD-Meditsina» named after N.A. Semashko. Address: 109386, Moscow, 23/1 Stavropol`skaya Str. E-mail: info@semashko.com
Tatyana E. Yurkova, PhD in Medicine, doctor at the Department of gastroenterology, Clinical Hospital «RZD-Meditsina» named after N.A. Semashko. Address: 109386, Moscow, 23/1 Stavropol`skaya Str. E-mail: info@semashko.com
Tatyana D. Khomyakova, chief physician of Clinical Hospital «RZD-Meditsina» named after N.A. Semashko, gastroenterologist of the highest category. Address: 109386, Moscow, 23/1 Stavropol`skaya Str. E-mail: info@semashko.com
Ekaterina S. Khromova, acting head of the hematology and chemotherapy day hospital, City Clinical Hospital named after V.V. Veresaev of the Moscow Healthcare Department. Address: 127411, Moscow, 10 Lobnenskaya Str.
E-mail: dshemgkb81@mail.ru
Vladimir V. Popov, Dr. med. habil., professor of the Department of pharmacology and biochemistry, G.R. Derzhavin Tambov State University, professor of the Department of therapy with a course in pharmacy, Medical Institute of Continuing Education of Moscow State University of Food Production, clinical pharmacologist. Address: 125080, Moscow, 11 Volokolamskoe Highway. E-mail: clinpharmcb6@mail.ru. ORCID: https://orcid.org/0000-0002-1570-2748


Similar Articles


Бионика Медиа