Prenatal diagnosis in factor XIII-A deficiency
- aDepartment of Paediatrics, Royal Berkshire Hospital, Reading, Berkshire RG1 5AN, bDepartment of Haematology, cMolecular Haematology Unit, Bristol Royal Infirmary, Bristol BS2 8HW
- Dr G R Standen.
- Accepted 29 October 1998
Abstract
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.
