Mutations in the HFE gene causing hereditary hemochromatosis in patients with Wilson disease
Abstract
The aim was to study the frequency of HFE gene mutations in patients with Wilson disease (WD) as one of the possible modifier genes. Materials and methods: There were examined 90 patients with WD. The frequency and spectrum of mutations in the HFE gene were studied using targeted NGS. Results. Mutations in the HFE gene were found in 30% patients with WD. In two patients was discovered combination of two hereditary diseases - WD and hereditary hemochromatosis, associated with metabolic disorders of copper and iron respectively.
Keywords
микроэлементы,
медь,
болезнь Вильсона-Коновалова,
гепатоцеребральная дегенерация,
ATP7B,
железо,
HFE,
наследственный гемохроматоз,
молекулярно-генетические методы,
NGS,
trace elements,
copper,
Wilson disease,
hepatocerebral degeneration,
ATP7B,
iron,
HFE,
hereditary hemochromatosis,
molecular genetic methods,
NGS
About the Authors
I. G. Tuluzanovskaya
I. M. Sechenov First Moscow State Medical University (Sechenov University)
Russian Federation
Russian Federation
M. S. Balashova
I. M. Sechenov First Moscow State Medical University (Sechenov University); Center of Genetics and Reproductive Medicine “Genetico”
Russian Federation
Russian Federation
N. A. Zhuchenko
I. M. Sechenov First Moscow State Medical University (Sechenov University)
Russian Federation
Russian Federation
O. S. Glotov
St. Petersburg State Health Care Establishment the City Hospital № 40; Saint Petersburg State University
Russian Federation
Russian Federation
A. S. Glotov
Saint Petersburg State University
Russian Federation
Russian Federation
M. I. Filimonov
I. M. Sechenov First Moscow State Medical University (Sechenov University)
Russian Federation
Russian Federation
T. M. Ignatova
Center of Endosurgery and Lithotripsy
Russian Federation
Russian Federation
T. V. Fillipova
I. M. Sechenov First Moscow State Medical University (Sechenov University)
Russian Federation
Russian Federation
T. I. Subbotina
I. M. Sechenov First Moscow State Medical University (Sechenov University)
Russian Federation
Russian Federation
M. M. Litvinova
I. M. Sechenov First Moscow State Medical University (Sechenov University)
Russian Federation
Russian Federation
A. Yu. Asanov
I. M. Sechenov First Moscow State Medical University (Sechenov University)
Russian Federation
Russian Federation
Review
For citations:
Tuluzanovskaya I.G., Balashova M.S., Zhuchenko N.A., Glotov O.S., Glotov A.S., Filimonov M.I., Ignatova T.M., Fillipova T.V., Subbotina T.I., Litvinova M.M., Asanov A.Yu. Mutations in the HFE gene causing hereditary hemochromatosis in patients with Wilson disease. Experimental and Clinical Gastroenterology. 2018;(11):33-37. (In Russ.)
Views:
515
Email this article 