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PubMed1980

Clot retraction in a factor XIII free system.

The role of Factor XIII in clot retraction was studied using the plasma from Factor XIII-deficient patients. Time course experiments revealed no significant difference in clot retraction between a plasma deficient in Factor XIII and one to which purified Factor XIII had been added. Using Factor XIII-free fibrinogen and Factor XIII-deficient platelets, it is shown that there is no significant difference in clot retraction with or without added Factor XIII.

Clot Retraction↗
PubMed1996

New mutations causing the premature termination of translation in the A subunit gene of coagulation factor XIII.

The amplification of factor XIII A subunit gene exons and heteroduplex analysis has been used to identify two new mutations that cause severe factor XIII deficiency. One mutation in a family of French origin results from a 4 bp deletion and leads to a premature termination of translation. The other mutation occurred in a Turkish family and results from a C-->T transition that inserts a premature translation stop signal at codon 400. Both mutations alter restriction enzyme sites and can be readily detected in amplified exon DNA for genetic counselling or prenatal diagnosis. The new mutations reflect the extensive molecular heterogeneity of factor XIII deficiency.

Child, Preschool↗
PubMed1985

On the retraction of collagen and fibrin induced by normal, defective and modified platelets.

Fibrin clot retraction (FCR) and collagen gel retraction (CGR) were studied in patients with inherited platelet defects, i.e. in Glanzmann's thrombasthenia, Hermansky-Pudlak syndrome, May-Hegglin anomaly, giant platelet syndrome, as well as in patients with von Willebrand disease and factor XIII deficiency. FCR was abnormal only in thrombasthenia, while CGR was found to be reduced in 2 patients with Hermansky-Pudlak syndrome and in 4 out of 5 cases with von Willebrand disease. Both FCR and CGR were normal in May-Hegglin anomaly, giant platelet syndrome and severe factor XIII deficiency. In none of the examined bleeding disorders was a concomitant FCR and CGR reduction detected. Natural polyamines and anti-fibronectin antibodies did not affect platelet potency in FCR or CGR. Peroxidation of platelet membrane components by sodium periodate abolished the platelet-induced FCR and CGR. This effect was reversed by subsequent reduction by sodium borohydride.

Adolescent↗
PubMed1979

Factor XIII.

1. Activated factor XIII is the enzyme that covalently cross-links fibrin monomers into fibrin polymers and results in increased clot strength and resistance of the clot to fibrinolysis. 2. Small amounts (greater than 1% of normal) of factor XIII are necessary for normal in vitro and in vivo activity. 3. Factor XIII deficiency is a rare autosomal recessive illness in which a hemorrhagic diathesis is caused by the virtual absence of the active a subunit of factor XIII. Approximately 100 cases have been described. 4. The disease in homozygotes is characterized by umbilical stump bleeding, a high incidence of fetal wastage, delayed soft tissue hemorrhage, and a high incidence of intracranial bleeding. The heterozygote is asymptomatic. 5. This paper calls attention to the apparent high incidence of oligospermia and small testes seen in homozygote males. Otherwise secondary sex characterics are normal. 6. Because there is no abnormality in thrombin generation and conversion of fibrinogen to fibrin, route coagulation tests (prothrombin time, partial thromboplastin time, thrombin time, etc.) are normal. Platelet function tests are normal. 7. Clots made from recalcified plasma severely deficient in factor XIII are soluble in 5 M urea or 1% monochloroacetic acid. These screening tests are simple and nearly pathognomonic of the illness. 8. More sophisticated and quantitative tests (e.g., dansylcadaverine incorporation) are available for definitive diagnosis and heterozygote detection. 9. Replacement treatment of the illness is simple, effective, and relatively inexpensive. Due to the long half-life of infused factor XIII and the small amounts necessary for normal hemostasis, prophylaxis is feasible and encouraged.

Adult↗
PubMed1998

[Recurrent hematomas and normal standard hemostasis tests].

The authors report the case of a 22-month-old boy experiencing a voluminous subcutaneous haematoma, 72 hours after a head trauma. Two subsequent drainages of this haematoma were required because of its recurrence. The child, whose parents had blood relations, suffered from recurrent bleeding since his birth. A standard haemostasis assessment including prothrombin time, activated partial thrombopiastin time, bleeding time, concentration of fibrinogen and platelet count was unremarkable. Therefore, coagulation factors were explored. An inherited factor XIII deficiency (less than 2%) was recognized. A new drain was inserted, after administration of factor XIII concentrate. The time course of the haematoma was favourable. After discharge, the prophylactic therapy consisted of an injection of factor XIII concentrate (50 Ul.kg-1) every 5 weeks.

Blood Coagulation Tests↗
PubMed1984

A fluorescent spot test for coagulation factor XIII.

A new method is described for the rapid detection of coagulation factor XIII. The technique utilizes the amine monodansylcadaverine in a fluorescent spot test. The method allows the checking of large numbers of samples during purification procedures. This test can also be used to diagnose factor XIII deficiency in plasma samples.

Cadaverine↗
PubMed2003

Identification of an inframe deletion and a missense mutation in the factor XIIIA gene in two Turkish patients.

We report two novel mutations in factor XIIIA (FXIIIA) gene that caused congenital factor XIII deficiency in two unrelated patients. The first alteration, a missense mutation Leu235Arg in exon 6 of FXIIIA gene, is located in the putative calcium-binding part of the core domain of the enzyme. Replacement of non-polar hydrophobic leucine residue with positively charged arginine residue is likely to effect protein folding thus destabilizing the molecule. The second mutation is a 3-bp deletion in exon 14 of FXIIIA gene. This deletion is located in beta barrel 2 domain of the protein and results in translation of an aberrant FXIIIA molecule that lacks lysine residue either at positions 677 or 678. As this inframe deletion is located in a direct repetetive sequence of AAGAAG, that codes for two lysine residues, the exact location of deletion could not be detected.

Adolescent↗
PubMed1993

Factor XIII ABristol 1: detection of a nonsense mutation (Arg171-->stop codon) in factor XIII A subunit deficiency.

Molecular analysis has been performed on a patient with coagulation factor XIII A subunit deficiency. A previously published genomic sequence indicates that exon 4 of the factor XIII A subunit gene contains two TaqI restriction sites within which arginine (CGA)-->stop (TGA) nonsense mutations are possible. Oligonucleotide primers were therefore used to amplify exon 4 by the polymerase chain reaction. TaqI digestion of the 326 base pair (bp) product derived from normal genomic DNA yielded expected fragments of 244, 73 and 9 bp in size. In the case of the patient, however, an additional fragment of 253 bp was present. Direct sequence analysis showed that the 5' TaqI site had been lost from one allele by a C-->T transition at nucleotide 598. Family studies demonstrated the mutation in the patient's father but no other first-degree relatives. This is the third independent mutation described in the factor XIII A subunit gene and the first to be identified in a patient compound heterozygous for the disorder.

Adult↗
PubMed1990

A familial factor XIII subunit B deficiency.

A 32-year-old woman with a bleeding tendency born of a consanguineous marriage, was found to have factor XIII subunit B deficiency. An abnormally low level of factor XIII activity was initially noticed and this finding led to further studies of the proband and her family. The notable features were: undetectable subunit B of factor XIII in the proband and her brother and reduced levels of subunit B, 34-52%, in her parents and children. The proband's brother had a markedly decreased level of subunit A protein. The level of factor XIII subunit A in platelets of the proband was normal. The half-life of subunit A determined from the disappearance curve of infused factor XIII subunit A concentrate was approximately 3 d and this is the shortest estimate of the half-life of factor XIII to date. From these results, it is suggested that subunit A is unstable in plasma deficient in subunit B and subunit B stabilizes the A protein. This is the first report of congenital deficiency of factor XIII subunit B and this disorder is thought to be inherited as an autosomal recessive trait.

Adult↗