E.Yu. EREMINA

Mordovia State University named after N.P. Ogarev, 68 Bolshevistskaya St., Saransk, Russian Federation, 430005

Eremina E.Yu. — D. Med. Sc., Professor, Head of the Department of Propaedeutics of Internal Diseases, tel. (834) 247-68-85, e-mail: eeu61@mail.ru

The clinical example demonstrates the difficulty of a hemochromatosis diagnostics caused by genetic polymorphism. The paper presents the current data on the etiology, pathogenesis, clinical features, diagnosis and treatment of patients with hemochromatosis. Particular attention is given to hereditary hemochromatosis and its genetic diversity. The paper provides information about five types of primary hemochromatosis and their clinical symptoms characteristics. It is shown that the most informative diagnostic methods at the first stage are studying the iron content in the serum, total serum iron binding capacity, transferrin saturation percentage, and ferritin levels in blood. The most sensitive test is the ferritin concentration in the serum, which is directly proportional to the total body iron stores. At the second diagnostics stage genetic methods are used and liver needle biopsy, if necessary.

Key words: hemochromatosis, genetic polymorphism, clinical picture, diagnosis.

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