Two Typical Hereditary Charts of Congenital Factor VII Deficiency

SummaryThe inheritance of congenital factor VII deficiency was investigated in 2 unrelated families. Out of 68 individuals, 4 (3 proven and 1 highly probable) were found to have severe factor VII deficiency (<C 0.1% factor VII), and 29 appeared to be heterozygotes (30—60% factor VII). The coagulation defect is due to an autosomal gene of intermediate expression and complete penetrance. The recessive character of the haemorrhagic diathesis due to the homozygous state for the abnormal gene is clearly demonstrated.

Download Full-text

Severe Hereditary Deficiency of Factor VII during Pregnancy

Thrombosis and Haemostasis ◽

10.1055/s-0038-1654219 ◽

1970 ◽

Vol 24 (01/02) ◽

pp. 146-151 ◽

Cited By ~ 5

Author(s):

U Seligsohn ◽

M. R Peyser ◽

R Toaff ◽

M Shani ◽

B Ramot

Keyword(s):

Family Study ◽

Umbilical Vein ◽

Factor Vii ◽

Autosomal Gene ◽

Factor Level ◽

Homozygous State ◽

Factor Vii Deficiency ◽

The Family ◽

Mild Deficiency ◽

Partial Factor

SummaryIn normal pregnant women factor VII level is increased. This may also be observed in women with hereditary partial factor VII deficiency.In a 38 year old woman with severe hereditary factor VII deficiency no change of the factor level was observed during pregnancy. The patient underwent two uneventful caesarian sections because of placenta praevia and transverse lie of the fetus.During the second caesarian section factor VII level was simultaneously determined in blood obtained from the antecubital and uterine veins and from the umbilical vein and artery. Factor VII levels in the umbilical vessels were similar and exceeded the levels observed in the mother’s vessels. In 3 control patients similar examinations were performed during caesarian sections but reversed ratios of factor VII levels were observed. These data seem to prove that factor VII does not cross the placenta.In the family study 2 siblings were found to have severe factor VII deficiency whereas several other members had either normal or partial deficient levels. The results obtained support again the assumption that factor VII deficiency is inherited by an autosomal gene that in the homozygous state is manifested by severe factor VII deficiency and in the heterozygous state by mild deficiency or normal factor VII levels.

Download Full-text

Clinical And Laboratory Observations In Congenital Factor VII Deficiency

10.1055/s-0038-1653040 ◽

1981 ◽

Author(s):

L M Kernoff ◽

J Hughes ◽

K Denson

Keyword(s):

Prothrombin Time ◽

Autosomal Recessive ◽

Procoagulant Activity ◽

Dental Extraction ◽

Factor Vii ◽

Recessive Character ◽

Factor Vii Deficiency ◽

Time Test ◽

Congenital Factor

Four generations of a kindred suffering from congenital Factor VII deficiency have been studied. The defect is transmitted as an autosomal recessive character with homozygotes having < 1% Factor VII procoagulant activity, and heterozygotes between 20-50%. Homozygotes suffer from epistaxis, menorrhagia, easy bruising, haemarthrosis, and excess bleeding after dental extraction. Heterozygotes are asymptomatic. Antibody neutralisation tests using a monospecific rabbit antihuman Factor VII antibody demonstrated in the three homozygotes and their heterozygous parents the presence of Factor VII antigen in excess of Factor VII procoagulant activity. The abnormality is therefore the result of a functionally abnormal molecule and not a true deficiency of Factor VII. When the homozygous plasmas were tested in the prothrombin time test, a progressive diminution in sensitivity to the Factor VII deficiency was observed with human, rabbit and ox tissue thromboplastins. Differences were however small and the total insensitivity to ox brain thromboplastin characteristic of Factor VII Padua was not observed.

Download Full-text