Literature review and clinical observation of acquired idiopathic hemophilia with a new missense mutation in the factor VIII gene (His2026Arg)
Ершов В. И., Гадаев И. Ю., Буданова Д. А., Перина Ф. Г., Сурин В. Л., Саломашкина В. В., Пшеничникова О. С., Зозуля Н. И.
Терапевтический архив
Т. 90, Вып. 7, С. 118-122
Опубликовано: 2018
Тип ресурса: Статья
DOI:10.26442/terarkh2018907118-122
Аннотация:
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 ex
Ключевые слова:
Acquired hemophilia A; Antigenic determinant; Factor VIII gene; Inhibitor coagulopathies; Mutations
blood clotting factor 7a; blood clotting factor 8; F8 protein, human; prednisolone; recombinant FVIIa; recombinant protein; blood; case report; female; genetics; hemophilia A; human; middle aged; missense mutation; treatment outcome; Factor VIIa; Factor VIII; Female; Hemophilia A; Humans; Middle Aged; Mutation, Missense; Prednisolone; Recombinant Proteins; Treatment Outcome
Язык текста: Русский
ISSN: 2309-5342
Ершов В. И. Владимир Игоревич 1943-
Гадаев И. Ю. Игорь Юрьевич 1967-
Буданова Д. А. Дарья Александровна 1980-
Перина Ф. Г.
Сурин В. Л.
Саломашкина В. В.
Пшеничникова О. С.
Зозуля Н. И.
Ershov V. I. Vladimir Igorevich 1943-
Gadaev I. Yu. Igor` Yuryevich 1967-
Budanova D. A. Dar`ya Aleksandrovna 1980-
Perina F. G.
Surin V. L.
Salomashkina V. V.
Pshenichnikova O. S.
Zozulya N. I.
Literature review and clinical observation of acquired idiopathic hemophilia with a new missense mutation in the factor VIII gene (His2026Arg)
Текст визуальный непосредственный
Терапевтический архив
Медицинское маркетинговое агентство "МедиаМедика"
Т. 90, Вып. 7 С. 118-122
2018
Статья
Acquired hemophilia A Antigenic determinant Factor VIII gene Inhibitor coagulopathies Mutations
blood clotting factor 7a blood clotting factor 8 F8 protein, human prednisolone recombinant FVIIa recombinant protein blood case report female genetics hemophilia A human middle aged missense mutation treatment outcome Factor VIIa Factor VIII Female Hemophilia A Humans Middle Aged Mutation, Missense Prednisolone Recombinant Proteins Treatment Outcome
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 ex