Congenital Hypoprothrombinemia in a Portuguese Family^[*]

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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