RT Journal Article
SR Electronic
T1 Prenatal diagnosis in factor XIII-A deficiency
JF Archives of Disease in Childhood - Fetal and Neonatal Edition
JO Arch Dis Child Fetal Neonatal Ed
FD BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health
SP F238
OP F239
DO 10.1136/fn.80.3.F238
VO 80
IS 3
A1 Killick, Caroline J
A1 Barton, Carol J
A1 Aslam, Shazia
A1 Standen, Graham
YR 1999
UL http://fn.bmj.com/content/80/3/F238.abstract
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.