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Iakovleva E.V.

Gematologicheskiĭ nauchnyĭ tsentr Minzdrava Rossii, Moskva

Surin V.L.

National Research Centre for Hematology, Ministry of Health of Russia, Moscow, Russia

Selivanova D.S.

National Research Center for Hematology, Ministry of Health of Russia, Moscow, Russia

Sergeeva A.M.

National Research Center for Hematology, Ministry of Health of Russia, Moscow, Russia

Goncharova M.V.

OBUZ "Gorodskaia klinicheskaia bol'nitsa #25", Novosibirsk

Demidova E.Yu.

National Research Center for Hematology, Ministry of Health of Russia, Moscow, Russia

Soboleva N.P.

Federal Research Institute for Health Organization and Informatics, Ministry of Health of the Russia, 11, Dobrolyubov St., Moscow, Russia, 127254

Makhinia S.A.

Gematologicheskiĭ nauchnyĭ tsentr Minzdrava Rossii

Dezhenkova A.V.

National Research Center for Hematology, Ministry of Health of Russia, Moscow, Russia

Likhacheva E.A.

National Research Center for Hematology, Ministry of Health of Russia, Moscow, Russia

Zozulya N.I.

National Research Center for Hematology, Ministry of Health of Russia, Moscow, Russia

Hereditary afibrinogenemia: A literature review and clinical observations

Authors:

Iakovleva E.V., Surin V.L., Selivanova D.S., Sergeeva A.M., Goncharova M.V., Demidova E.Yu., Soboleva N.P., Makhinia S.A., Dezhenkova A.V., Likhacheva E.A., Zozulya N.I.

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Journal: Therapeutic Archive. 2016;88(12): 120‑125

DOI: 10.17116/terarkh20168812120-125

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Table of contents

HEREDITARY AFIBRINOGENEMIA: A LITERATURE REVIEW AND CLINICAL OBSERVATIONS
HEREDITARY AFIBRINOGENEMIA: A LITERATURE REVIEW AND CLINICAL OBSERVATIONS

To cite this article:

Iakovleva EV, Surin VL, Selivanova DS, et al. . Hereditary afibrinogenemia: A literature review and clinical observations. Therapeutic Archive. 2016;88(12):120‑125. (In Russ.)
https://doi.org/10.17116/terarkh20168812120-125

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Afibrinogenemia is a rare congenital coagulopathy that leads to life-threatening bleeding. In afibrinogenemia, plasma fibrinogen levels are less than 0.1 g/L. The clinical manifestations of the disease can be both bleeding and thromboses of different localizations, which is determined by the multifunctional role of fibrinogen in hemostasis. The described cases demonstrate different clinical phenotypes of the disease. In both cases the diagnosis was confirmed by genetic examinations that revealed homozygous mutations in the fibrinogen A genes. The nature of the mutations assumes consanguineous marriages, as confirmed by the results of a genealogical analysis. Fibrinogen preparations are promising in treating afibrinogenemia in Russia.

Keywords:

afibrinogenemia
rare hereditary coagulopathies
congenital fibrinogen deficiency
hereditary disorders of fibrinogen formation

Authors:

Iakovleva E.V.

Gematologicheskiĭ nauchnyĭ tsentr Minzdrava Rossii, Moskva

Surin V.L.

National Research Centre for Hematology, Ministry of Health of Russia, Moscow, Russia

Selivanova D.S.

National Research Center for Hematology, Ministry of Health of Russia, Moscow, Russia

Sergeeva A.M.

National Research Center for Hematology, Ministry of Health of Russia, Moscow, Russia

Goncharova M.V.

OBUZ "Gorodskaia klinicheskaia bol'nitsa #25", Novosibirsk

Demidova E.Yu.

National Research Center for Hematology, Ministry of Health of Russia, Moscow, Russia

Soboleva N.P.

Federal Research Institute for Health Organization and Informatics, Ministry of Health of the Russia, 11, Dobrolyubov St., Moscow, Russia, 127254

Makhinia S.A.

Gematologicheskiĭ nauchnyĭ tsentr Minzdrava Rossii

Dezhenkova A.V.

National Research Center for Hematology, Ministry of Health of Russia, Moscow, Russia

Likhacheva E.A.

National Research Center for Hematology, Ministry of Health of Russia, Moscow, Russia

Zozulya N.I.

National Research Center for Hematology, Ministry of Health of Russia, Moscow, Russia

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  2. Acharya S, Dimichele DM. Rare inherited disorders of fibrinogen. Haemophilia. 2008;14:1151-1158. doi:10.1111/j.1365-2516.2008.01831.x
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