Type I and type II disease in congenital factor XIII deficiency

1986 ◽  
Vol 53 (5) ◽  
pp. 411-413 ◽  
Author(s):  
A. Girolami ◽  
M. G. Cappellato ◽  
A. R. Lazzaro ◽  
M. Boscaro
Keyword(s):  
Factor Xiii ◽  
Type I ◽  
Type Ii ◽  
Factor Xiii Deficiency ◽  
Congenital Factor

CONGENITAL FACTOR XIII DEFICIENCY: TYPE I AND TYPE II DISEASE

1985 ◽  
Vol 60 (2) ◽  
pp. 375-376 ◽  
Author(s):  
Antonio Girolami ◽  
Maria Giovanna Cappellato ◽  
Maria Angela Vicarioto
Keyword(s):  
Factor Xiii ◽  
Type I ◽  
Type Ii ◽  
Factor Xiii Deficiency ◽  
Deficiency Type ◽  
Congenital Factor

Clinical pharmacokinetics of a placenta-derived factor XIII concentrate in type I and type II factor XIII deficiency

1991 ◽  
Vol 36 (1) ◽  
pp. 30-34 ◽  
Author(s):  
Francesco Rodeghiero ◽  
Alberto Tosetto ◽  
Eros Di Bona ◽  
Giancarlo Castaman
Keyword(s):  
Factor Xiii ◽  
Type I ◽  
Type Ii ◽  
Factor Xiii Deficiency ◽  
Clinical Pharmacokinetics

scholarly journals Type I factor XIII deficiency is caused by a genetic defect of its b subunit: insertion of triplet AAC in exon III leads to premature termination in the second Sushi domain

Blood ◽  
1996 ◽  
Vol 87 (7) ◽  
pp. 2769-2774 ◽  
Author(s):  
T Izumi ◽  
T Hashiguchi ◽  
G Castaman ◽  
A Tosetto ◽  
F Rodeghiero ◽  
...  
Keyword(s):  
Factor Xiii ◽  
Stop Codon ◽  
Genetic Defect ◽  
Type I ◽  
Type Ii ◽  
Factor Xiii Deficiency ◽  
B Subunit ◽  
I Factor ◽  
A Subunit ◽  
Nucleotide Triplet

Factor XIII deficiency has been classified into two categories: type I deficiency, characterized by the lack of both the a and b subunits; and type II deficiency, characterized by the lack of the a subunit alone. To clarify the genetic bases of these diseases, previously reported cases of the type I deficiency were examined at the DNA level. DNA sequence analysis showed that a nucleotide triplet (AAC) was inserted within the codon for Tyr-80 in exon III of the gene for a female proband's b subunit, resulting in the creation of a stop codon. Restriction digestion of amplified DNAs confirmed that the proband and her sister were homozygotes, and their family members were heterozygotes of this mutant allele. A truncated protein composed of 79 amino acids could be synthesized by these homozygotes; however, such a protein would not be secreted or it would degrade quickly, because there were normal amounts of the mutant mRNA, but no b subunit was detected in these patients. The a subunit deficiency of these patients must be a secondary to the b subunit deficiency, as their gene for the a subunit was intact, and the a subunit in their platelets was present within normal levels.

New Families with Hereditary Hemorrhagic Trait due to Deficiency of Fibrin Stabilizing Factor (F. XIII)

1968 ◽  
Vol 20 (03/04) ◽  
pp. 534-541 ◽  
Author(s):  
O Egeberg
Keyword(s):  
Factor Xiii ◽  
Family Members ◽  
Recessive Inheritance ◽  
Factor Xiii Deficiency ◽  
History Of ◽  
Congenital Factor

SummarySevere hemorrhagic disorder due to congenital factor XIII deficiency is described in two unrelated Norwegian girls.Plasma cephalin time was for both patients extraordinarily short during episodes of bleeding and hematomas. No such hyperactivity reaction was demonstrable in unaffected condition some months later.Estimations of blood factor XIII levels revealed a partial defect in the parents of both children, and also in some other family members, consistent with an autosomal incompletely recessive inheritance of the defect. Some of the presumptive heterozygotes had a history of light bleeding phenomenons; whether this was related to their partial lack of factor XIII is so far uncertain.

Successful pregnancy in a woman with congenital factor XIII deficiency treated with substitutive therapy

1987 ◽  
Vol 55 (1) ◽  
pp. 45-48 ◽  
Author(s):  
F. Rodeghiero ◽  
G. C. Castaman ◽  
E. Bona ◽  
M. Ruggeri ◽  
E. Dini
Keyword(s):  
Factor Xiii ◽  
Factor Xiii Deficiency ◽  
Successful Pregnancy ◽  
Congenital Factor

scholarly journals A Novel Molecular Mechanism of Severe Congenital Factor XIII Deficiency

2020 ◽  
Author(s):  
Jingjing Han ◽  
Miao Jiang ◽  
Jian Su ◽  
Ziqiang Yu ◽  
Xia Bai ◽  
...  
Keyword(s):  
Molecular Mechanism ◽  
Factor Xiii ◽  
Factor Xiii Deficiency ◽  
Congenital Factor

Noninvasive prenatal diagnosis of congenital factor XIII deficiency in Iran

2022 ◽  
Vol Publish Ahead of Print ◽  
Author(s):  
Hoda Motlagh ◽  
Akbar Dorgalaleh ◽  
Shadi Tabibian ◽  
Majid Naderi ◽  
Farhad Zaker
Keyword(s):  
Prenatal Diagnosis ◽  
Factor Xiii ◽  
Factor Xiii Deficiency ◽  
Noninvasive Prenatal Diagnosis ◽  
Congenital Factor

scholarly journals Use of Catridecacog in a patient with severe Factor XIII deficiency undergoing surgery

2019 ◽  
Vol 11 (1) ◽  
Author(s):  
Gianluca Sottilotta ◽  
Francesca Luise ◽  
Vincenzo Oriana ◽  
Angela Piromalli ◽  
Rosa Santacroce ◽  
...  
Keyword(s):  
Inguinal Hernia ◽  
Surgical Procedures ◽  
Factor Xiii ◽  
Bleeding Disorder ◽  
Factor Xiii Deficiency ◽  
Fxiii Deficiency ◽  
Congenital Factor

Despite many articles regarding the antihemorrhagic treatment and prophylaxis, there is a lack of experience about how to best conduct major surgical procedures in patients with congenital factor XIII (FXIII) deficiency. Here we report a case of surgery (right inguinal hernia, complicated by heaviness and pain) performed in a patient with FXIII deficiency, receiving recombinant FXIII prophylaxis (Catridecacog 35 UI/kg every 28±2 days). Our experience shows that Catridecacog can be used safely and effectively not only for continued prophylaxis but also in surgery and adds to the very limited body of evidence currently available on surgery in this bleeding disorder.

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