Congenital Combined Deficiency of Factor VIII (Antihaemophilic Globulin) and Factor V (Proaccelerin) in Two Siblings

Summary

Two cases of congenital combined deficiency of factor VIII (antihaemophilic globulin) and factor V (proaccelerin) in 2 sibilings (a female and a male) born of non-consanguineous parents are reported.

Mild isolate defect of factor V was demonstrated in the mother and in 2 maternal aunts, while pure factor VIII deficiency was found in a male relative on the maternal side.

Infusion of normal fresh plasma lead in both cases to a parallel rise of both factors, while infusion of haemophilic plasma lead to a rise of factor V only, thus excluding the presence in the haemophilic plasma of a common precursor to both factors.

The genetic study of the family seems to suggest that the two defects are inherited according to different patterns, two genes being responsible for the two defects. Factor V deficiency seems inherited according to an autosomal incompletely dominant type of heredity, while factor VIII deficiency is due to a sex-linked mutant gene.

Genie interaction, inversion of the dominance or early inactivation of the normal X-chromosome in a carrier are the possible explanations for the severe factor VIII deficiency in the proposita.

• References

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