Prenatal diagnosis in factor XIII-A deficiency

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

^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.

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