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Inhibitor development in one patient and laboratory discrepancies in several families with both mild haemophilia and Arg531Cys mutation
Author(s) -
CID A. R.,
CASAÑA P.,
CABRERA N.,
HAYA S.,
CORTINA V.,
AZNAR J. A.
Publication year - 2007
Publication title -
haemophilia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.213
H-Index - 92
eISSN - 1365-2516
pISSN - 1351-8216
DOI - 10.1111/j.1365-2516.2006.01422.x
Subject(s) - haemophilia a , medicine , haemophilia , mutation , desmopressin , haemophilia b , pediatrics , gastroenterology , genetics , gene , biology
Summary. 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.