Congenital Afibrinogenemia

Summary

A case of congenital afibrinogenemia is reported.

The patient is a 2 month old white female infant who presented bleeding from the umbilical stump a few days after birth. Subsequently other hemorrhagic manifestations were hematomas at the site of venipunctures.

All routine plasmatic tests gave values greater than 1000 sec. The prothrombin time was corrected by the addition of equal parts of plasma of all known prothrombin complex factor deficiences. No fibrinogen was found in the patient’s plasma. The immunological assay of fibrinogen confirmed the lack of this protein in the proposita’s plasma thereby excluding a dysfibrinogenemia. The father and the mother of our proposita were found to have slightly reduced fibrinogen levels and were considered to be heterozygotes for the abnormality. Four other relatives were thougth to be heterozygotes for the abnormality.

The hereditary trasmission of the disorder appears to be autosomal incompletely recessive.

• References

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