Diagnosis and management of severe congenital factor XIII deficiency in the emergency department: Lessons from a "model" family

Blood Transfusion

Volumn 13, Issue 2, 2015, Pages 324-327

  Bertamino, Marta ^a   Banov, Laura ^a   Molinari, Angelo C ^a  

^a G GASLINI INSTITUTE   (Italy)

Author keywords

Abuse; Factor xiii deficiency; Ilio psoas haematoma; Intracranial haemorrhage; Stump haemorrhage

Indexed keywords

BLOOD CLOTTING FACTOR 13 CONCENTRATE;

ABDOMINAL BLEEDING; ARTICLE; BLEEDING TENDENCY; BLOOD CLOT LYSIS; BLOOD CLOTTING FACTOR 13 DEFICIENCY; CASE REPORT; CHILD; COMPUTER ASSISTED TOMOGRAPHY; DIFFERENTIAL DIAGNOSIS; DRUG MEGADOSE; ECHOGRAPHY; EMERGENCY WARD; FEMALE; GENE MUTATION; GENE SEQUENCE; HEMATOMA; HUMAN; INFLAMMATORY DISEASE; INJURY; MALE; NUCLEAR MAGNETIC RESONANCE IMAGING; PHYSICAL EXAMINATION; PRESCHOOL CHILD; PROTEIN CONFORMATION; PROTEIN DEGRADATION; PSOAS MUSCLE; QUALITY OF LIFE; SHIVERING; SKIN SWELLING; SUBSTITUTION THERAPY; EMERGENCY HEALTH SERVICE; FACTOR XIII DEFICIENCY; INFANT;

EMERGENCY SERVICE, HOSPITAL; FACTOR XIII DEFICIENCY; HUMANS; INFANT; MALE;

EID: 84927548116     PISSN: 17232007     EISSN: None     Source Type: Journal    
DOI: 10.2450/2014.0024-14     Document Type: Article

References (12)

1. Hsieh L, Nugent D. Factor XIII deficiency. Haemophilia 2008;14:1190-200.
2. Schroeder V, Kohler HP. Factor XIII deficiency: an update. Semin Thromb Hemost 2013;39:632-41.
3. Peyvandi F, Palla R, Menegatti M, et al. Coagulation factor activity and clinical bleeding severity in rare bleeding disorders: results from the European Network of Rare Bleeding Disorders. J Thromb Haemost 2012;10:615-21.
4. Fadoo Z, Merchant Q, Rehman KA. New developments in the management of congenital factor XIII deficiency. J Blood Med 2013;4:65-73.
5. Lawrie AS, Green L, Mackie IJ, et al. Factor XIII - an under diagnosed deficiency - are we using the right assays? J Thromb Haemost 2010;8:2478-82.
6. Takahashi N, Tsukamoto H, Umeyama H, et al. Molecular mechanisms of type II factor XIII deficiency: novel Gly562-Arg mutation and C-terminal truncation of the A subunit cause factor XIII deficiency as characterized in a mammalian expression system. Blood 1998;91:2830-8.
7. Castaman G, Giacomelli SH, Schroeder V, et al. Further evidence of heterogeneity of gene defects in Italian families with factor XIII deficiency. Haemophilia 2012;18:e6-8.
8. Inbal A, Oldenburg J, Carcao M, et al. Recombinant factor XIII: a safe and novel treatment for congenital factor XIII deficiency. Blood 2012;119:5111-7.
9. Balkan C, Kavakli K, Karapinar D. Iliopsoas haemorrhage in patients with haemophilia: results from one centre. Haemophilia 2005;11:463-7.
10. Srivastava A, Brewer AK, Mauser-Bunschoten EP, et al. Guidelines for the management of hemophilia. Haemophilia 2013;19:e1-47.
11. Anwar R, Minford A, Gallivan L, et al. Delayed umbilical bleeding - a presenting feature for factor XIII deficiency: clinical features, genetics, and management. Pediatrics 2002;109:E32.
12. Sharieff GQ, Trocinski DR, Thompson K. Pediatric patients with bleeding dyscrasias: what is the cause of delays in initiating replacement therapy? J Pediatr Health Care 2001;15:10-3.