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Tytuł pozycji:

Regulation and importance of factor VIII levels in hemophilia A carriers.

Tytuł:
Regulation and importance of factor VIII levels in hemophilia A carriers.
Autorzy:
Cygan PH; Division of Hematology/Oncology, Department of Medicine, Penn State Health Milton S. Hershey Medical Center, Hershey, Pennsylvania.
Kouides PA; University of Rochester School of Medicine and the Mary M. Gooley Hemophilia Center at Rochester General Hospital, Rochester, New York, USA.
Źródło:
Current opinion in hematology [Curr Opin Hematol] 2021 Sep 01; Vol. 28 (5), pp. 315-322.
Typ publikacji:
Journal Article; Research Support, U.S. Gov't, P.H.S.; Review
Język:
English
Imprint Name(s):
Publication: Philadelphia Pa : Lippincott Williams And Wilkins
Original Publication: Philadelphia, PA : Current Science, c1993-
MeSH Terms:
Factor VIII*/genetics
Factor VIII*/metabolism
Hemophilia A*/blood
Hemophilia A*/genetics
Hemorrhage*/blood
Hemorrhage*/genetics
Heterozygote*
Phenotype*
Chromosomes, Human, X/*genetics
Female ; Humans
References:
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Substance Nomenclature:
839MOZ74GK (F8 protein, human)
9001-27-8 (Factor VIII)
Entry Date(s):
Date Created: 20210816 Date Completed: 20210916 Latest Revision: 20210916
Update Code:
20240104
DOI:
10.1097/MOH.0000000000000667
PMID:
34397591
Czasopismo naukowe
Purpose of Review: To summarize the recent literature related to female hemophilia A carriers with respect to prevalence in the population, the impact of baseline factor VIII levels and other influences on bleeding phenotype, and clinical management needs.
Recent Findings: Many female hemophilia A carriers are at risk for abnormal bleeding, yet they are underrecognized by healthcare providers and their bleeding symptoms are underreported. Low FVIII levels are consistently associated with clinically significant bleeding and correlate well with skewed X chromosome inactivation (XCI). Most interestingly, bleeding tendency is also observed in some hemophilia A carriers with normal factor VIII levels and requires further investigation. Well controlled studies investigating peripartum and periprocedural FVIII levels and adequate hemostatic treatment are necessary to inform management guidelines.
Summary: Prevalence and bleeding tendency of hemophilia A carriers remain underreported, despite a significant proportion having low FVIII levels. Skewed XCI may explain low FVIII but does not explain the bleeding risk encountered in a larger proportion of hemophilia A carriers with random XCI and borderline/normal FVIII.
(Copyright © 2021 Wolters Kluwer Health, Inc. All rights reserved.)

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