Prenatal diagnosis in factor XIII-A deficiency

Archives of Disease in Childhood. Fetal and Neonatal Edition, Volume 80: Pages F238-F239, May 1999.

Life-threatening Haemorrhage after Circumcision

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

  1. Department of Paediatrics, Royal Berkshire Hospital, Reading, Berkshire RG1 5AN
  2. Department of Haematology
  3. 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.

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