Congenital factor XIII deficiency in Pakistan: characterization of seven families and identification of four novel mutations

Haemophilia ◽  
2013 ◽  
Vol 20 (4) ◽  
pp. 568-574 ◽  
Author(s):  
M. Borhany ◽  
H. Handrkova ◽  
A. Cairo ◽  
V. Schroeder ◽  
N. Fatima ◽  
...  
Keyword(s):  
Factor Xiii ◽  
Novel Mutations ◽  
Factor Xiii Deficiency ◽  
Congenital Factor

Characterisation of six novel A-subunit mutations leading to congenital factor XIII deficiency and molecular analysis of the first diagnosed patient with this rare bleeding disorder

2006 ◽  
Vol 95 (01) ◽  
pp. 77-84 ◽  
Author(s):  
Verena Schroeder ◽  
Esther Meili ◽  
Trinh Cung ◽  
Peter Schmutz ◽  
Hans Kohler
Keyword(s):  
Amino Acid ◽  
Factor Xiii ◽  
Bleeding Disorder ◽  
Single Amino Acid ◽  
Factor Xiiia ◽  
Novel Mutations ◽  
Factor Xiii Deficiency ◽  
Single Amino Acid Change ◽  
A Subunit ◽  
Congenital Factor

SummaryIn 1960, the first case report on factor XIII deficiency was published describing a seven-year-old Swiss boy with a so far unknown bleeding disorder. Today, more than 60 mutations in the factor XIIIA- and B-subunit genes are known leading to congenital factor XIII deficiency. In the present study, we describe six novel mutations in the factor XIII A-subunit gene. Additionally, we present the molecular characterisation of the first described patient with congenital factor XIII deficiency. The six novel mutations include a small deletion, Glu202 del G, leading to a premature stop codon and truncation of the protein, and a splice site mutation at the exon 10/intron 10 boundary, +1G/A, giving rise to an incorrect spliced mRNA lacking exons 10 and 11. The remaining four mutations are characterised by the single amino acid changes Met159Arg, Gly215Arg, Trp375Cys, and His716Arg, and were expressed in COS-1 cells. Antigen levels and activity of the mutants were significantly reduced compared to the wild-type. The patient described in 1960 also shows a single amino acid change, Arg77Cys. Structural analysis of all mutant enzymes suggests several mechanisms leading to destabilisation of the protein.

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

Factor XIII mutation spectrum in Iranian patients with hereditary factor XIII deficiency: Detection of 3 novel mutations

2018 ◽  
Vol 41 (3) ◽  
Author(s):  
Mojgan Mirakhorli ◽  
Faegheh Behboudi Farahbakhsh ◽  
Mohammad Reza Baghaipour ◽  
Touraj Mahmoudi ◽  
Mohammad Jazebi ◽  
...  
Keyword(s):  
Factor Xiii ◽  
Mutation Spectrum ◽  
Novel Mutations ◽  
Factor Xiii Deficiency ◽  
Hereditary Factor ◽  
Iranian Patients

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

Seven novel mutations in the factor XIII A-subunit gene causing hereditary factor XIII deficiency in 10 unrelated families

2004 ◽  
Vol 2 (10) ◽  
pp. 1790-1797 ◽  
Author(s):  
A. Vysokovsky ◽  
R. Saxena ◽  
M. Landau ◽  
A. Zivelin ◽  
R. Eskaraev ◽  
...  
Keyword(s):  
Factor Xiii ◽  
Subunit Gene ◽  
Novel Mutations ◽  
Factor Xiii Deficiency ◽  
Hereditary Factor ◽  
A Subunit

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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