Severe bleeding diatheses in an elderly patient with combined type autoantibody against factor XIII A subunit; novel approach to the diagnosis and classification of anti-factor XIII antibodies

Haemophilia ◽  
2017 ◽  
Vol 23 (4) ◽  
pp. 590-597 ◽  
Author(s):  
M. Kun ◽  
N. Szuber ◽  
É. Katona ◽  
K. Pénzes ◽  
A. Bonnefoy ◽  
...  
Keyword(s):  
Elderly Patient ◽  
Factor Xiii ◽  
Severe Bleeding ◽  
Novel Approach ◽  
Diagnosis And Classification ◽  
A Subunit

scholarly journals Diagnosis and classification of factor XIII deficiencies

2011 ◽  
Vol 9 (7) ◽  
pp. 1404-1406 ◽  
Author(s):  
H. P. KOHLER ◽  
A. ICHINOSE ◽  
R. SEITZ ◽  
R. A. S. ARIENS ◽  
L. MUSZBEK ◽  
...  
Keyword(s):  
Factor Xiii ◽  
Diagnosis And Classification

scholarly journals Neutralizing autoantibody against factor XIII A subunit resulted in severe bleeding diathesis with a fatal outcome - characterization of the antibody

2016 ◽  
Vol 14 (8) ◽  
pp. 1517-1520 ◽  
Author(s):  
K. Pénzes ◽  
K. Rázsó ◽  
É. Katona ◽  
A. Kerényi ◽  
M. Kun ◽  
...  
Keyword(s):  
Factor Xiii ◽  
Fatal Outcome ◽  
Severe Bleeding ◽  
Bleeding Diathesis ◽  
A Subunit

Challenges in implementation of ISTH diagnostic algorithm for diagnosis and classification of factor XIII deficiency in Iran

2015 ◽  
Vol 13 (9) ◽  
pp. 1735-1736 ◽  
Author(s):  
A. Dorgalaleh ◽  
Y. Farshi ◽  
S. H. Alizadeh ◽  
M. Naderi ◽  
S. H. Tabibian ◽  
...  
Keyword(s):  
Factor Xiii ◽  
Diagnostic Algorithm ◽  
Factor Xiii Deficiency ◽  
Diagnosis And Classification

scholarly journals Molecular Mechanism of a Mild Phenotype in Coagulation Factor XIII (FXIII) Deficiency: A Splicing Mutation Permitting Partial Correct Splicing of FXIII A-Subunit mRNA

Blood ◽  
1997 ◽  
Vol 89 (4) ◽  
pp. 1279-1287 ◽  
Author(s):  
Hanna Mikkola ◽  
Laszlo Muszbek ◽  
Elina Laiho ◽  
Martti Syrjälä ◽  
Eija Hämäläinen ◽  
...  
Keyword(s):  
Molecular Mechanism ◽  
Factor Xiii ◽  
Splice Donor Site ◽  
Severe Bleeding ◽  
Minute Amount ◽  
Mild Phenotype ◽  
Stop Mutation ◽  
Mrna Transcripts ◽  
A Subunit ◽  
Fxiii Deficiency

AbstractCongenital factor XIII (FXIII) deficiency is potentially a severe bleeding disorder, but in some cases, the symptoms may be fairly mild. In this study, we have characterized the molecular mechanism of a mild phenotype of FXIII A-subunit deficiency in a Finnish family with two affected sisters, one of whom has even had two successful pregnancies without regular substitution therapy. In the screening tests for FXIII deficiency, no A-subunit could be detected, but by using more sensitive assays, a minute amount of functional A-subunit was seen. 3H-putrescine incorporation assay showed distinct FXIII activity at the level of 0.35% of controls, and also the fibrin cross-linking pattern in the patients clotted plasma showed partial γ-γ dimerization. In Western blot analysis, a faint band of full-length FXIII A-subunit was detected in the patients' platelets. The patients have previously been identified as heterozygotes for the Arg661 → Stop mutation. Here we report a T → C transition at position +6 of intron C in their other allele. The transition affected splicing of FXIII mRNA resulting in low steady state levels of several variant mRNA transcripts. One transcript contained sequences of intron C, whereas two transcripts resulted from skipping of one or two exons. Additionally, correctly spliced mRNA lacking the Arg661 → Stop mutation of the maternal allele could be detected. These results demonstrate that a mutation in splice donor site of intron C can result in several variant mRNA transcripts and even permit partial correct splicing of FXIII mRNA. Further, even the minute amount of correctly processed mRNA is sufficient for producing protein capable of γ-γ dimerization of fibrin. This is a rare example of an inherited functional human disorder in which a mutation affecting splicing still permits some correct splicing to occur and this has a beneficial effect to the phenotype of the patients.

Application of HUMF13A01 (AAAG)n STR Polymorphism to the Genetic Diagnosis of Coagulation Factor XIII Deficiency

1996 ◽  
Vol 76 (06) ◽  
pp. 0879-0882 ◽  
Author(s):  
Sasichai Kangsadalampai ◽  
Marjorie Coggan ◽  
S Hande Çaglayan ◽  
Gülten Aktuglu ◽  
Philip G Board
Keyword(s):  
Prenatal Diagnosis ◽  
Factor Xiii ◽  
Genetic Diagnosis ◽  
Coagulation Factor ◽  
Factor Xiiia ◽  
Severe Bleeding ◽  
Flanking Sequence ◽  
Coagulation Factor Xiii ◽  
A Subunit ◽  
Polymerase Chain

SummaryDeficiency of the A subunit of coagulation factor XIII causes a severe bleeding disorder requiring life long replacement therapy. The mutations causing A subunit deficiency appear to be very heterogeneous, and it is impractical to identify each mutation before genetic counselling or prenatal diagnosis can be attempted. In this study we have shown that a highly polymorphic short tandem repeat element, HUMF13A01 (AAAG)n that occurs in the 5’ flanking sequence of the factor XIII A subunit gene, can be used to follow the segregation of deficiency causing mutations. We studied 6 families with factor XIIIA subunit deficiency from 5 different ethnic groups. All parents were heterozygous for the repetitive element and therefore all the families were informative. The linked polymorphism was used to carry out the first prenatal diagnosis of factor XIII A subunit deficiency. The analysis of this polymorphism by the polymerase chain reaction is rapid, reliable, requires little DNA and is ideal for the genetic analysis of factor XIIIA subunit deficiency.

Molecular and Genetic Mechanisms of Factor XIII A Subunit Deficiency

2000 ◽  
Vol Volume 26 (Number 01) ◽  
pp. 005-010 ◽  
Author(s):  
Akitada Ichinose ◽  
Masayoshi Souri ◽  
Tomonori Izumi ◽  
Nobumasa Takahashi
Keyword(s):  
Factor Xiii ◽  
Genetic Mechanisms ◽  
A Subunit
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