Prenatal diagnosis in factor XIII-A deficiency.
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.
Killick
C J
CJ
Department of Paediatrics, Royal Berkshire Hospital, Reading, Berkshire RG1 5AN.
Barton
C J
CJ
Aslam
S
S
Standen
G
G
D003241:Consanguinity; D005177:Factor XIII Deficiency / Q000175:diagnosis / Q000235:genetics; D005260:Female; D005820:Genetic Testing; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D020080:Tandem Repeat Sequences; D011503:Transglutaminases / Q000172:deficiency* / Q000235:genetics
D011503:Transglutaminases