Twenty-one asymptomatic individuals with a mildly prolonged prothrombin time (greater than 2 SD from the prothrombin time of the reference plasma) were found to have a mild isolated factor VII (F VII) defect (mean 38.8 U/dl; SD 13.2). Factor VII antigen levels were also found to be reduced (mean 45.5 U/dl; SD 7.8) in 13 of them. These figures were compared with those of 50 normals and 28 obligatory heterozygotes for F VII deficiency. The phenotypical behaviors in the propositi were found to be equal to those of the F VII congenital deficiency heterozygotes: the discrepant one (VII+) and the nondiscrepant one (VII-/R). Fifteen families of the propositi could also be studied, totalling 55 additional individuals; in 25 of them (ten pedigrees) a mild F VII deficiency was found showing the same phenotypical features of the corresponding propositi. We therefore believe that these individuals with mild F VII deficiency can be considered as heterozygotes for the defect, since the other vitamin K-dependent clotting factors were normal; the defect is transmitted throughout the kindred with the same mode of inheritance as F VII congenital deficiency; and F VII:C and F VII:Ag levels are highly comparable with those of known obligatory heterozygotes for F VII deficiency. On the grounds of a careful statistical analysis we propose a formula which allows a discrimination between the two phenotypes of the heterozygotes for F VII congenital deficiency. In addition it is suggested that sensitive tissue thromboplastins should be used to pick up these mild defects.

EVALUATION OF THE NATURE OF MIDLY PROLONGED PROTHROMBIN TIMES / Mazzucconi, Maria Gabriella; G., Mariani; A., Chistolini; R., Pasquali Lasagni; M., Motta; A., Ghirardini; D., Altieri; Mannucci, P. M.; Mandelli, Franco. - In: AMERICAN JOURNAL OF HEMATOLOGY. - ISSN 0361-8609. - 24:(1987), pp. 37-45. [10.1002/ajh.2830240106]

EVALUATION OF THE NATURE OF MIDLY PROLONGED PROTHROMBIN TIMES.

MAZZUCCONI, Maria Gabriella;A. Chistolini;MANDELLI, Franco
1987

Abstract

Twenty-one asymptomatic individuals with a mildly prolonged prothrombin time (greater than 2 SD from the prothrombin time of the reference plasma) were found to have a mild isolated factor VII (F VII) defect (mean 38.8 U/dl; SD 13.2). Factor VII antigen levels were also found to be reduced (mean 45.5 U/dl; SD 7.8) in 13 of them. These figures were compared with those of 50 normals and 28 obligatory heterozygotes for F VII deficiency. The phenotypical behaviors in the propositi were found to be equal to those of the F VII congenital deficiency heterozygotes: the discrepant one (VII+) and the nondiscrepant one (VII-/R). Fifteen families of the propositi could also be studied, totalling 55 additional individuals; in 25 of them (ten pedigrees) a mild F VII deficiency was found showing the same phenotypical features of the corresponding propositi. We therefore believe that these individuals with mild F VII deficiency can be considered as heterozygotes for the defect, since the other vitamin K-dependent clotting factors were normal; the defect is transmitted throughout the kindred with the same mode of inheritance as F VII congenital deficiency; and F VII:C and F VII:Ag levels are highly comparable with those of known obligatory heterozygotes for F VII deficiency. On the grounds of a careful statistical analysis we propose a formula which allows a discrimination between the two phenotypes of the heterozygotes for F VII congenital deficiency. In addition it is suggested that sensitive tissue thromboplastins should be used to pick up these mild defects.
1987
01 Pubblicazione su rivista::01a Articolo in rivista
EVALUATION OF THE NATURE OF MIDLY PROLONGED PROTHROMBIN TIMES / Mazzucconi, Maria Gabriella; G., Mariani; A., Chistolini; R., Pasquali Lasagni; M., Motta; A., Ghirardini; D., Altieri; Mannucci, P. M.; Mandelli, Franco. - In: AMERICAN JOURNAL OF HEMATOLOGY. - ISSN 0361-8609. - 24:(1987), pp. 37-45. [10.1002/ajh.2830240106]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11573/414605
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