Hereditary factor XIII deficiency.
Twelve cases of hereditary factor XIII (FX III) deficiency diagnosed over five years (1986-1990) at Christian Medical College and Hospital, Vellore are presented here. Although all the cases had a history of umbilical cord bleeding and subsequent frequent bleeding episodes, diagnosis was considerably delayed. All but two patients required transfusions for bleeding episodes. Ten patients had a history of consanguinity in parents. Clinical features and family history are described in detail here. The ease of performing the Urea solubility test and problems in it's interpretation are highlighted. The role of prophylactic transfusion is also discussed.
Patel
A P
AP
Department of Clinical Pathology, Christian Medical College and Hospital, Vellore.
Chandy
M
M
Raghupathy
P
P
Kirubakaran
C
C
Khanduri
U
U
D000293:Adolescent; D000328:Adult; D001780:Blood Coagulation Tests; D001803:Blood Transfusion; D002648:Child; D002675:Child, Preschool; D005176:Factor XIII / Q000032:analysis; D005177:Factor XIII Deficiency / Q000097:blood / Q000235:genetics* / Q000628:therapy; D005260:Female; D006580:Genetic Carrier Screening; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D010949:Plasma
D005176:Factor XIII