Literature review and clinical observation of acquired idiopathic hemophilia with a new missense mutation in the factor VIII gene (His2026Arg)


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Abstract

The article provides review of possible mechanisms of inhibitor coagulopathies, in particular of acquired hemophilia A. This pathology is an extremely rare disease occurring in 1-2 cases in 1 million per year. In the present study we provide data for two clinical cases of hemophilia A in women. These cases had different development mechanisms, although both women have a newly discovered missense mutation His2026Arg in the VIII factor gene. The matter of main interest is the description of the disease development in the patient with an acquired idiopathic hemophilia A with a possible disease occurrence due to an asymmetric X-chromosome inactivation (lyonization). In this particular case lyonization led to the late manifestation of the hemophilia A carrier’s state and development of severe form of the inhibitor-associated acquired hemophilia A. We also discuss therapeutic approaches to these forms of the disease, considering there are no concise protocols for case management due to an extreme rarity of the pathology. Acquainting the clinical personnel working it the different areas of medicine with suchlike inhibitor coagulopathies has a major practical importance.

About the authors

V I ERSHOV

Moscow, Russia

проф. каф. госпитальной терапии №1 Москва, Россия

I Yu GADAEV

Moscow, Russia

доцент каф. госпитальной терапии №1 Москва, Россия

D A BUDANOVA

Moscow, Russia

врач-гематолог УКБ №1, отд-ния гематологии клиники госпитальной терапии им. А.А. Остроумова, ORCID iD 0000-0001-6324-2371 Москва, Россия

F G PERINA

State Budgetary Institution of Healthcare of Sverdlovsk region “Sverdlovsk Regional Clinical Hospital №1”

врач-гематолог высшей квалификационной категории ГБУЗ СО СОКб №1 Ekaterinburg, Russia

V L SURIN

Moscow, Russia

Email: vadsurin@mail.ru
с.н.с. Москва, Россия

V V SALOMASHKINA

Moscow, Russia

н.с. Москва, Россия

O S PSHENICHNIKOVA

Moscow, Russia

Москва, Россия

N I ZOZULYA

Moscow, Russia

д.м.н., врач-гематолог, зав. научно-консультативным отделом коагулопатий Москва, Россия

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