-transparent.png){kind=logo}
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.
E Santagostino, and
A Gringeri, and
L Tagliavacca, and
P M Mannucci
June 1982,
American journal of clinical pathology,
E Santagostino, and
A Gringeri, and
L Tagliavacca, and
P M Mannucci
February 1987,
Human pathology,
E Santagostino, and
A Gringeri, and
L Tagliavacca, and
P M Mannucci
September 2012,
American journal of hematology,
E Santagostino, and
A Gringeri, and
L Tagliavacca, and
P M Mannucci
November 2009,
Journal of thrombosis and haemostasis : JTH,
E Santagostino, and
A Gringeri, and
L Tagliavacca, and
P M Mannucci
June 2012,
Turkish journal of haematology : official journal of Turkish Society of Haematology,
E Santagostino, and
A Gringeri, and
L Tagliavacca, and
P M Mannucci
January 1979,
Bilten za hematologiju i transfuziju,
E Santagostino, and
A Gringeri, and
L Tagliavacca, and
P M Mannucci
January 1999,
Acta haematologica,
E Santagostino, and
A Gringeri, and
L Tagliavacca, and
P M Mannucci
October 2013,
Seminars in thrombosis and hemostasis,
E Santagostino, and
A Gringeri, and
L Tagliavacca, and
P M Mannucci
January 1972,
Haemostasis,
E Santagostino, and
A Gringeri, and
L Tagliavacca, and
P M Mannucci
February 1988,
Lancet (London, England),
