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Thromb Haemost 1995; 74(02): 619-621
DOI: 10.1055/s-0038-1649786
Original Article
Clinical Studies
Schattauer GmbH Stuttgart

Inhibitors to Factor VIII in a Family with Mild Hemophilia: Molecular Characterization and Response to Factor VIII and Desmopressin

E Santagostino
The Angelo Blanchl Bonomi Hemophilia and Thrombosis Center and Institute of Internal Medicine IRCCS Magglore Hospital and University of Milan, Italy
,
A Gringeri
The Angelo Blanchl Bonomi Hemophilia and Thrombosis Center and Institute of Internal Medicine IRCCS Magglore Hospital and University of Milan, Italy
,
L Tagliavacca
The Angelo Blanchl Bonomi Hemophilia and Thrombosis Center and Institute of Internal Medicine IRCCS Magglore Hospital and University of Milan, Italy
,
P M Mannucci
The Angelo Blanchl Bonomi Hemophilia and Thrombosis Center and Institute of Internal Medicine IRCCS Magglore Hospital and University of Milan, Italy
› Institutsangaben
Weitere Informationen

Publikationsverlauf

Received 03. März 1995

Accepted 31. März 1995

Publikationsdatum:
04. Juli 2018 (online)

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Summary

Inhibitor development in patients with mild hemophilia is a rare event. We report the occurrence of a persistent, high-responding inhibitor in two affected members of a mild hemophilia A family and discuss the therapeutic approaches employed in these patients in terms of their efficacy and effect on antibody titer. Desmopressin was an effective option for bleeding management, because endogenous factor VIII released by DDAVP was less immunogenic than exogenous factor VIII replacement, which invariably triggered anamnestic responses. Genetic analysis performed to investigate whether or not a peculiar molecular lesion accounted for this particular phenotype identified a G-A transversion at nucleotide 6507 in exon 23. This missense mutation has been already described in mild hemophilia A, but not in patients with inhibitors.

 

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