THE CIRCUMCISION REFERENCE LIBRARY


ARCHIVES OF DISEASE IN CHILDHOOD. FETAL AND NEONATAL EDITION, Volume 80: Pages F238-F239,
May 1999.



Prenatal diagnosis in factor XIII-A deficiency

Caroline J Killick,a Carol J Barton,b Shazia Aslam,c Graham Standenc

a Department of Paediatrics,
Royal Berkshire Hospital,
Reading, Berkshire RG1 5AN,

b Department of Haematology,
c Molecular Haematology Unit,
Bristol Royal Infirmary,
Bristol BS2 8HW

Correspondence to: Dr G R Standen.

Accepted 29 October 1998

Congenital factor XIII deficiency is a severe bleeding disorder that is inherited as an autosomal recessive trait. The condition is commonly due to absence of the factor XIII-A subunit protein in the plasma. The case of a baby is reported who showed typical clinical features of factor XIII-A deficiency, including recurrent bleeding from the umbilical stump and a life threatening haemorrhage after circumcision. Family studies were performed and molecular analysis, using a Short Tandem Repeat (STR) marker closely linked to the A subunit gene, allowed antenatal exclusion diagnosis to be undertaken in a subsequent pregnancy. The case highlights the importance of seeking a family history of bleeding disorders before surgery in the neonatal period, particularly if the parents are consanguineous.

Keywords: factor XIII-A deficiency; prenatal diagnosis; autosomal recessive trait

Introduction

Congenital factor XIII deficiency is a rare inherited bleeding disorder that commonly occurs in neonates.1 We report a case of a baby with this disorder who developed a large sub-aponeurotic haemorrhage when 2 days old, with recurrent bleeding from the umbilical stump and a life-threatening haemorrhage after a circumcision on day 28. After the coagulation defect had been diagnosed, genetic studies were undertaken which ensured that a successful prenatal diagnosis was performed in a subsequent pregnancy.

CIRP Note: The Circumcision Reference Library has elected not to display the complete text of this paper as it is available at Prenatal diagnosis in factor XIII-A deficiency.


Citation:
(File revised 24 January 2007)

Return to CIRP library

http://www.cirp.org/library/complications/killick1/