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Thromb Haemost 1973; 30(03): 451-459
DOI: 10.1055/s-0038-1649123
Original Article
Schattauer GmbH

Congenital Hypoprothrombinemia in a Portuguese Family[*]

J. M Pina-Cabral
1   Department of Physiology (Dir.: Prof. J. Bragança-Tender), Oporto School of Medicine, Oporto, Portugal
,
Benvindo Justiça
1   Department of Physiology (Dir.: Prof. J. Bragança-Tender), Oporto School of Medicine, Oporto, Portugal
› Author Affiliations
Further Information

Publication History

Received 02 July 1973

Accepted 05 September 1973

Publication Date:
30 June 2018 (online)

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Summary

A new case of congenital hypoprothrombinemia is described, in which the level of factor II in the propositus has been consistently near 1 per cent. Several specific assays of this factor have been used, including an immunochemical assay that rules out the presence of an abnormal molecule of prothrombin. The normal levels found for the other known coagulation factors, the lack of response to vit. K1 administration and the absence of a specific inhibitor, are all reasons to discard a secondary cause for this hypoprothrombinemia. Thromboplastin generation test was not only deficient, but it was also delayed. Serum composition was found responsible for this abnormality. The family pedigree of the propositus was compatible with autosomal recessive transmission of the disease.

* This work was supported, in part, by Fundação Calouste Gulbenkian – Lisbon, Portugal.


 

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