A patient suffering from cardiochalasia was found to be partially deficient in both coagulation factors V and VII. No bleeding tendency had been noticed. A family study showed that the father had factor VII deficiency with normal factor V, while the mother and 2 sisters had a reduced level of factor V and normal factor VII. Thus, the combined deficiency was due to chance association of two distinct independently segregating genetic defects. While a number of combinations of coagulation factor deficiency have been previously described, this, to the best of our knowledge, is the first instance of combined deficiency of factor V and VII reported so far.

Combined factor V and factor VII deficiency. Report of a case with a record on combined defects and considerations on the relevance of partial deficiency of coagulation factors

D'Avino R;
1983

Abstract

A patient suffering from cardiochalasia was found to be partially deficient in both coagulation factors V and VII. No bleeding tendency had been noticed. A family study showed that the father had factor VII deficiency with normal factor V, while the mother and 2 sisters had a reduced level of factor V and normal factor VII. Thus, the combined deficiency was due to chance association of two distinct independently segregating genetic defects. While a number of combinations of coagulation factor deficiency have been previously described, this, to the best of our knowledge, is the first instance of combined deficiency of factor V and VII reported so far.
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/20.500.14243/258693
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