Inheritance and bleeding in factor XI deficiency

Bolton‐Maggs, Paula; Wan‐Yin, B. Young; McCraw, A.; Slack, Joan; Kernoff, P. B. A.

doi:10.1111/j.1365-2141.1988.tb02409.x

Cited by 215 publications

(204 citation statements)

References 16 publications

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“…In humans, F11 deficiency is inherited in an autosomal recessive or dominant manner [1]. In cattle, a mutation that prevents homodimer formation usually results in recessive inheritance, since significant amounts of normal homodimer can be formed by the products of the wild-type alleles in the heterozygous genotype, and mutations in the catalytic domain of proteins usually result in dominant inheritance by formation of heterodimers of the mutant and wild-type polypeptides [9].…”

Section: Discussionmentioning

confidence: 99%

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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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Section: Discussionmentioning

confidence: 99%

“…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].…”

mentioning

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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“…Bleeding tendency in FXI-deficient patients seems to poorly correlate with plasma FXI levels and hemorrhagic episodes are usually associated with injury or surgery [14], particularly if it involves anatomical sites rich in fibrinolytic activity [15].…”

Section: Introductionmentioning

confidence: 99%

Factor XI gene mutations in factor XI deficient patients of the Czech Republic

et al. 2008

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Factor XI (FXI) deficiency is an autosomal inherited coagulation disorder characterized by bleeding symptoms mainly associated with injury or surgery. Although most of the FXI gene mutations in Ashkenazi Jews are represented by the Glu117stop or Phe283Leu mutations, considerable genetic heterogeneity has been reported in other populations. We report here the genotypic characterization of four families with severe inherited FXI deficiency from the Czech Republic. Seven different gene mutations (three novel) were identified, thus, excluding the existence of a major founder effect in this population. Interestingly, both Glu117-stop and Phe283Leu were detected once, further demonstrating the occurrence of these mutations also outside the Jewish populations. In conclusion, we confirm that FXI deficiency in non-Jewish populations is because of different gene mutations; however, the presence of the Glu117stop and Phe283Leu mutations suggests that genetic testing in FXI-deficient patients can start with these two point mutations. Am. J. Hematol. 83:916-919, 2008. V

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“…Splicing is seen in general population [4]. Various studies have confirmed that bleeding can occur in heterozygotes [5][6][7]. This disorder is, therefore, not completely recessive and the variability of the bleeding tendency constitute one enigma of this deficiency.…”

Section: Discussionmentioning

confidence: 99%

Factor XI Deficiency: A Rare Cause of Prolonged Bleeding in a Post-Operative Patient

Barik¹,

Sweta²

2015

JCR

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Abstract:A boy aged 14 years was operated for a cyst in oral cavity. The post-operative stay was complicated by continued bleeding from the site of incision in oral cavity. The bleeding time was found to be normal however coagulation time was found to be 25 minutes. History of any abnormal bleeding in past was not available, parents refused to have noted any swelling in joints. Further evaluation showed abnormally prolonged APTT however PT was normal. Based on mixing experiments and factors assays, diagnosis of factor XI deficiency was made.

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Inheritance and bleeding in factor XI deficiency

Cited by 215 publications

References 16 publications

Carrier Rate of Factor XI Deficiency in Stunted Japanese Black Cattle

Carrier Rate of Factor XI Deficiency in Stunted Japanese Black Cattle

Factor XI gene mutations in factor XI deficient patients of the Czech Republic

Factor XI Deficiency: A Rare Cause of Prolonged Bleeding in a Post-Operative Patient

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