Successful Management of a Patient with Factor XI Deficiency and Unstable Angina by Percutaneous Coronary Intervention

Lee, Sang Hyun; Jeong, Myung Ho; Sohn, Il Seok; Lim, Sang Yup; Hong, Seo Na; Kang, Dong Oh; Kim, Kye Hun; Park, Hyung Wook; Hong, Young Joon; Kim, Ju Han; Kim, Weon; Ahn, Young Keun; Cho, Jeong Gwan; Park, Jong Chun; Kang, Jung Chaee

doi:10.4070/kcj.2005.35.11.860

Cited by 3 publications

(3 citation statements)

References 16 publications

(9 reference statements)

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“…Indeed, a high genetic heterogeneity with a wide spectrum of mutations has been described in non-Jewish populations [17][18][19][20]. Although there have been a few reports on patients with factor XI deficiency in Korea [21][22][23], there are no genetically confirmed cases so far. In this regard, the authors herein describe a Korean woman with severe FXI deficiency from compound heterozygous mutations in the F11 gene.…”

Section: Introductionmentioning

confidence: 99%

Severe factor XI deficiency in a Korean woman with a novel missense mutation (Val498Met) and duplication G mutation in exon 13 of the F11 gene

Kwon

Kim²,

Bang³

et al. 2008

Blood Coagulation &Amp; Fibrinolysis

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Hereditary factor XI (FXI) deficiency is a rare bleeding disorder inherited in an autosomal recessive manner. The genetic background of FXI deficiency is the mutations in the F11 gene on the chromosome band 4q35. The prevalence is known to be particularly high in Ashkenazi Jews with well documented recurrent mutations; however, founder mutations in F11 have also been reported in non-Jewish patients. In this report, we describe a Korean patient with severe FXI deficiency whose causative mutations were identified by molecular genetic tests. The patient was a 33-year-old pregnant woman. Routine gynecologic workup revealed prolonged activated partial thromboplastin time. Her FXI level was severely decreased at 1% (reference range, 60-140%). Direct sequencing analysis of the F11 gene was performed to identify the causative mutations. The patient was shown to have two different mutations, c.1546 G>A (Val498Met) and c.1560dupG (Tyr503ValfsX32) in the F11 gene. Val498Met is a novel missense mutation, and the Tyr503ValfsX32 mutation was recently reported in a Japanese patient. Both mutations occurred in the exon 13 of F11 and were believed to disrupt the catalytic domain of the FXI protein, leading to severe FXI deficiency. To the best of our knowledge, this is the first genetically confirmed case of severe FXI deficiency in Korea, and more cases are needed to find any signature of founder effect in the Korean population and its potential relationship with other Asian populations.

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Section: Introductionmentioning

confidence: 99%

Severe factor XI deficiency in a Korean woman with a novel missense mutation (Val498Met) and duplication G mutation in exon 13 of the F11 gene

Kwon

Kim²,

Bang³

et al. 2008

Blood Coagulation &Amp; Fibrinolysis

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show abstract

“…In Korea, hereditary FXI deficiency is rare, and only 8 cases have been reported [ 7 - 11 ]. A history of spontaneous bleeding has not been reported even in patients with severe deficiency, except in 1 case with intermittent nasal bleeding, which was easily controlled.…”

Section: Discussionmentioning

confidence: 99%

“…We report a case of a Korean woman with mild factor XI deficiency who was harboring a novel heterozygous mutation in the F11 gene. Only 8 cases of FXI deficiency have been reported in Korea, of which only 1 case has been genetically confirmed to be a case of severe FXI deficiency [ 7 - 11 ]. To the best of our knowledge, this is the first genetically confirmed case of mild FXI deficiency in Korea.…”

Section: Introductionmentioning

confidence: 99%

A Novel Missense Mutation Asp506Gly in Exon 13 of the F11 Gene in an Asymptomatic Korean Woman with Mild Factor XI Deficiency

et al. 2011

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Factor XI (FXI) deficiency is a rare autosomal recessive coagulation disorder most commonly found in Ashkenazi and Iraqi Jews, but it is also found in other ethnic groups. It is a trauma or surgery-related bleeding disorder, but spontaneous bleeding is rarely seen. The clinical manifestation of bleeding in FXI deficiency cases is variable and seems to poorly correlate with plasma FXI levels. The molecular pathology of FXI deficiency is mutation in the F11 gene on the chromosome band 4q35. We report a novel mutation of the F11 gene in an 18-year-old asymptomatic Korean woman with mild FXI deficiency. Pre-operative laboratory screen tests for lipoma on her back revealed slightly prolonged activated partial thromboplastin time (45.2 sec; reference range, 23.2-39.4 sec). Her FXI activity (35%) was slightly lower than the normal FXI activity (reference range, 50-150%). Direct sequence analysis of the F11 gene revealed a heterozygous A to G substitution in nucleotide 1517 (c.1517A>G) of exon 13, resulting in the substitution of aspartic acid with glycine in codon 506 (p.Asp506Gly). To the best of our knowledge, the Asp506Gly is a novel missense mutation, and this is the first genetically confirmed case of mild FXI deficiency in Korea.

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Coronarography in Patients with Factor XI deficiency: A Literature Review

Abdallah¹,

Khoueiry²,

Abdallah³

2016

J Blood Disord Transfus

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Successful Management of a Patient with Factor XI Deficiency and Unstable Angina by Percutaneous Coronary Intervention

Cited by 3 publications

References 16 publications

Severe factor XI deficiency in a Korean woman with a novel missense mutation (Val498Met) and duplication G mutation in exon 13 of the F11 gene

Severe factor XI deficiency in a Korean woman with a novel missense mutation (Val498Met) and duplication G mutation in exon 13 of the F11 gene

A Novel Missense Mutation Asp506Gly in Exon 13 of the F11 Gene in an Asymptomatic Korean Woman with Mild Factor XI Deficiency

Coronarography in Patients with Factor XI deficiency: A Literature Review

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