PT  - JOURNAL ARTICLE
AU  - Caroline J Killick
AU  - Carol J Barton
AU  - Shazia Aslam
AU  - Graham Standen
TI  - Prenatal diagnosis in factor XIII-A deficiency
AID  - 10.1136/fn.80.3.F238
DP  - 1999 May 01
TA  - Archives of Disease in Childhood - Fetal and Neonatal Edition
PG  - F238--F239
VI  - 80
IP  - 3
4099  - http://fn.bmj.com/content/80/3/F238.short
4100  - http://fn.bmj.com/content/80/3/F238.full
SO  - Arch Dis Child Fetal Neonatal Ed1999 May 01; 80
AB  - 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.