학술논문
Inhibitor development in one patient and laboratory discrepancies in several families with both mild haemophilia and Arg531Cys mutation.
Document Type
Article
Author
Source
Subject
*HEMOPHILIA
*GENETIC mutation
*DESMOPRESSIN
*CHROMOGENIC compounds
*PATIENTS
*BLOOD coagulation disorders
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Language
ISSN
1351-8216
Abstract
Certain mutations in mild haemophilia A have been associated with a greater risk of inhibitor development, especially when associated with intense treatment. We present a patient with both mild haemophilia A and Arg531Cys mutation, which developed lowtitre inhibitors and was not seen to be related to the intense substitute treatment. The inhibitor has a greater effect on the exogenous factor VIII, permiting an adequate response to treatment with desmopressin. A discrepancy exists in the factor VIII activity in this our patient and in the haemophiliacs of another two families with the same mutation when determination is performed with one-stage or chromogenic method. [ABSTRACT FROM AUTHOR]