Factor XI Deficiency

Seligsohn, Uri

doi:10.1002/9780470987124.ch55

Cited by 15 publications

(18 citation statements)

References 43 publications

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“…Twoofthe three mutations, Glu117X( typeI I) andP he283Leu (type III) predominate in Jews; theywerefound to be harboredby98% of 295 unrelatedpatients with severe FXIdeficiency (14). The third mutation, type I, is located at thelastsplice site of the FXI gene and has so farbeen identified in sevenu nrelatedp atients (14).…”

Section: Mutations Founder Effectsand Ethnic Distributionmentioning

confidence: 99%

Factor XI in haemostasis and thrombosis: Past, present and future

Seligsohn¹

2007

Thromb Haemost

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Section: Mutations Founder Effectsand Ethnic Distributionmentioning

confidence: 99%

Factor XI in haemostasis and thrombosis: Past, present and future

Seligsohn¹

2007

Thromb Haemost

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“…12 Two mutations, designated as type II (E117X) and type III (F283L), account for 98% of alleles in this population. 13 Haplotype analysis demonstrated that these two mutations are of ancient origin and arose from distinct founders: the type II mutation is common in Ashkenazi and Iraqi Jews (allele frequencies 0.0217 and 0.0167, respectively) and in Palestinian Arabs, and therefore probably originated in a Jewish founder approximately 2500 years ago, before the major divergence of these groups. 12 In contrast, the type III mutation (allele frequency 0.0254) is more recent, and is confined to Ashkenazi Jews.…”

Section: Introductionmentioning

confidence: 99%

“…4 Hereditary FXI deficiency (MIM+264900) is an injuryrelated bleeding disorder that was first described as a hemophilia-like syndrome by Rosenthal et al 5 However, unlike in the hemophilias, spontaneous bleeding is rare in FXI deficiency, even in patients with severe deficiency; 6 bleeding usually occurs only after trauma or surgery, particularly at sites where there is local fibrinolysis. 7 Moreover, bleeding manifestations are not well correlated with the plasma levels of FXI activity and bleeding episodes can vary widely among patients with similar FXI levels. 8 Patients with very severe FXI deficiency can develop a FXI inhibitor, affecting FXI activation by thrombin or activated factor XII or inhibiting FIX activation by activated FXI.…”

Section: Introductionmentioning

confidence: 99%

Simultaneous genotyping of coagulation factor XI type II and type III mutations by multiplex real-time polymerase chain reaction to determine their prevalence in healthy and factor XI-deficient Italians

Zadra¹,

Asselta²,

Tenchini³

et al. 2008

Haematologica

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BackgroundFactor XI deficiency is a rare autosomal recessive coagulopathy, which is, however, common among Ashkenazi Jews, in whom the so-called type II (E117X) and type III (F283L) mutations account for 98% of alleles. In non-Jewish populations, a higher level of allelic heterogeneity has been reported. However, the type II mutation was found in individuals from England, Portugal, and Italy, and haplotype analysis confirmed its Jewish origin. The aims of this study were to develop a rapid and accurate assay for the simultaneous detection of type II/type III mutations and to determine the frequency of these mutations in a large Italian population of healthy individuals and in a cohort of factor XI-deficient Italian patients.

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“…Factor XI deficiency is inherited in an autosomal recessive or dominant manner [1], and it causes a congenital bleeding disorder characterized by minor bleeding episodes and severe protracted bleeding after trauma or surgical procedures in humans [20].…”

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confidence: 99%

Carrier Rate of Factor XI Deficiency in Stunted Japanese Black Cattle

Watanabe

Hirano²,

Sugimoto³

et al. 2006

The Journal of Veterinary Medical Science

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ABSTRACT. Blood examinations and genotyping of Factor XI (F11) were performed in growth retardation Japanese Black cattle and their dams. Genotyping of F11 revealed that the recessive homozygous and heterozygous genotype frequencies were 5.2% and 50.0% in the Claudin-16 (CL-16) deficiency group (n=58), 0% and 14.2% in the renal dysplasia group (n=7), 0% and 26.1% in the non-CL-16 deficiency nephritis group (n=23), 8.9% and 46.7% in the hypogenesis syndrome group (n=45), 6.2% and 25.0% in the neonatal weak calf syndrome group (n=32), 9.1% and 38.6% in the respective dams group (n=44), 0% and 23.1% in the normal cattle group (n=13), and 5.9% and 38.2% in total (n=222), respectively. These results showed that the carrier rate of F11 deficiency was high in Japanese Black cattle, and that the CL-16 deficiency, hypogenesis syndrome, neonatal weak calf syndrome, and dams groups had a large amount of recessive homozygous genotype than the other groups. No abnormal bleeding was observed clinically in the present study, and 4 of the recessive homozygous dams showed normal growth and parturition.

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Factor XI Deficiency

Cited by 15 publications

References 43 publications

Factor XI in haemostasis and thrombosis: Past, present and future

Factor XI in haemostasis and thrombosis: Past, present and future

Simultaneous genotyping of coagulation factor XI type II and type III mutations by multiplex real-time polymerase chain reaction to determine their prevalence in healthy and factor XI-deficient Italians

Carrier Rate of Factor XI Deficiency in Stunted Japanese Black Cattle

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