THE CIRCUMCISION REFERENCE LIBRARY
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
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.
http://www.cirp.org/library/complications/killick1/