ANEMIA OF CHRONIC DISEASE IN A FEMALE PATIENT, HETEROZYGOUS FOR H63D HFE GENE MUTATION


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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.

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About the authors

Natalia A. Bulanova

G.R. Derzhavin Tambov State University; Clinical Hospital «RZD-Meditsina» named after N.A. Semashko; Central State Medical Academy of the Directorate of the President of the Russian Federation

Email: bulanovanatalia@mtu-net.ru
Dr. med. habil., associate professor, professor of the Department of hospital therapy; associate professor of the Department of emergency medicine, emergency and extreme medicine 392000, г. Tambov, 93 Sovetskaya Str.

Lyudmila A. Panchenkova

A.I. Yevdokimov Moscow State University of Medicine and Dentistry of the Ministry of Healthcare

Email: lapanchenkova@mail.ru
Dr. med. habil., professor, professor of the Department of hospital therapy No. 1 127473, Moscow, 20/1 Delegatskaya Str

Khadizhat A. Khamidova

A.I. Yevdokimov Moscow State University of Medicine and Dentistry of the Ministry of Healthcare

Email: k.khamidova@mail.ru
PhD in Medicine, associate professor of the Department of hospital therapy No. 1 127473, Moscow, 20/1 Delegatskaya Str

Galina G. Karnuta

Clinical Hospital «RZD-Meditsina» named after N.A. Semashko

Email: info@semashko.com
head of the Department of gastroenterology 127473, Moscow, 20/1 Delegatskaya Str

Svetlana Yu. Zinovieva

Clinical Hospital «RZD-Meditsina» named after N.A. Semashko

Email: info@semashko.com
doctor at the Department of gastroenterology 127473, Moscow, 20/1 Delegatskaya Str

Tatyana E. Yurkova

Clinical Hospital «RZD-Meditsina» named after N.A. Semashko

Email: info@semashko.com
PhD in Medicine, doctor at the Department of gastroenterology 127473, Moscow, 20/1 Delegatskaya Str

Tatyana D. Khomyakova

Clinical Hospital «RZD-Meditsina» named after N.A. Semashko

Email: info@semashko.com
chief physician 127473, Moscow, 20/1 Delegatskaya Str

Ekaterina S. Khromova

City Clinical Hospital named after V.V. Veresaev of the Moscow Healthcare Department

Email: dshemgkb81@mail.ru
acting head of the hematology and chemotherapy day hospital

Vladimir V. Popov

G.R. Derzhavin Tambov State University; Clinical Hospital «RZD-Meditsina» named after N.A. Semashko; Moscow State University of Food Production

Email: clinpharmcb6@mail.ru
Dr. med. habil., professor of the Department of pharmacology and biochemistry; professor of the Department of therapy with a course in pharmacy, Medical Institute of Continuing Education

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