Thromb Haemost 1961; 05(01): 087-092
DOI: 10.1055/s-0038-1654905
Originalarbeiten – Original Article – Travaux Originaux
Schattauer GmbH

Two Typical Hereditary Charts of Congenital Factor VII Deficiency

F. J Cleton
1   Clinic for Internal Medicine (Director: Prof. Dr. J. Mulder) University Hospital, Leiden, Holland
,
E. A Loeliger
1   Clinic for Internal Medicine (Director: Prof. Dr. J. Mulder) University Hospital, Leiden, Holland
› Author Affiliations
Further Information

Publication History

Publication Date:
21 June 2018 (online)

Summary

The 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.

 
  • References

  • 1 Alexander B, Goldstein R, Landwehr G, Cook D. D. Congenital SPCA deficiency: a hitherto unrecognized coagulation defect with hemorrhage rectified by serum and serum fractions. J. Clin. Invest 30: 596 1951;
  • 2 Allison A. C, Blumberg B. S. Dominance and recessivity in medical genetics. Review. Amer. J. Med. 25: 933 1958;
  • 3 Burmeister A. Zur Differentialdiagnose des angeborenen Faktor-VII-Mangels. Z. Kinderheilk. 81: 88 1958;
  • 4 Caën I, Yanotti S, Varangot J, Bernard J. Étude d’un cas d’hypoproconvertinémie vraie congénitale. Sang. 30: 535 1959;
  • 5 Dische F. E, Benfield Vera. Congenital factor-VII deficiency. Haematological and genetic aspects. Acta Haematol. 21: 257 1959;
  • 6 Kupfer H. G, Hanna B. L. Congenital factor-VII (proconvertin) deficiency. Experimental and clinical investigation. Abstr. 3rd Congr. clin. Path., Brussels 11: 73 1957;
  • 7 Lacher M. J, Rosenthal R. L. Proconvertin deficiency. Clinical and hereditary aspects. Proc. 7th. Congr. int. Soc. Haemat. Rome: 290 1958;
  • 8 Owren P. A. Prothrombin and accessory factors. Clinical significance. Amer. J. Med. 14: 201 1953;
  • 9 Voss D, Waaler B. A. Congenital hypoproconvertinaemia. A report on 12 cases with total deficiency and 19 cases with partial deficiency. Thromb. Diath. haem. 03: 375 1959;
  • 10 Zollinger W. Thesis, Zürich. 1960
  • 11 Zollinger W, Hitzig W. H. Familienuntersuchung beim kongenitalen Faktor-VII-Mangel. Helv. med. Acta. 25: 475 1958;