Factor XI deficiency: Two novel mutations in asymptomatic Italian patients

M. Tomaiuolo, G. Favuzzi, F. Cappucci, D. Pisanelli, G. L. Tiscia, P. Musto, F. A. Scaraggi, R. I. Cincione, M. Margaglione, E. Grandone

Research output: Contribution to journalArticle

2 Citations (Scopus)

Abstract

Factor XI (FXI) deficiency is a rare bleeding disorder, resulting in a wide range of bleeding manifestations, from asymptomatic bleeding to injury-related bleeding. To identify mutations in FXI-deficient patients and to establish a possible relationship between clinical phenotype and genotype, we studied two patients from Southern Italy with FXI deficiency. They were identified by presurgical or routine laboratory screening. None of them showed bleeding. Three different mutations were detected (Glu117Stop, Cys118Arg and Trp497Gly); two of them were novel (Cys118Arg and Trp497Gly). One patient (with severe FXI levels) showed a compound heterozygosity (Glu117Stop with Cys118Arg). Two novel missense mutations were highly conserved among different species. In our patients, bleeding tendency did not appear to be correlated with FXI levels or with a single mutation in heterozygosis. On the other hand, the compound heterozygosis might explain low FXI levels, but it is not associated with bleeding. Our data confirm that a severe FXI deficiency is not necessarily associated with bleeding.

Original languageEnglish
Pages (from-to)767-770
Number of pages4
JournalHaemophilia
Volume16
Issue number5
DOIs
Publication statusPublished - Sep 2010

Fingerprint

Factor XI Deficiency
Factor XI
Hemorrhage
Mutation
Missense Mutation
Italy
Genotype
Phenotype

Keywords

  • Clinical phenotype
  • Factor XI deficiency
  • Gene
  • Mutation

ASJC Scopus subject areas

  • Hematology
  • Genetics(clinical)

Cite this

Factor XI deficiency : Two novel mutations in asymptomatic Italian patients. / Tomaiuolo, M.; Favuzzi, G.; Cappucci, F.; Pisanelli, D.; Tiscia, G. L.; Musto, P.; Scaraggi, F. A.; Cincione, R. I.; Margaglione, M.; Grandone, E.

In: Haemophilia, Vol. 16, No. 5, 09.2010, p. 767-770.

Research output: Contribution to journalArticle

Tomaiuolo, M, Favuzzi, G, Cappucci, F, Pisanelli, D, Tiscia, GL, Musto, P, Scaraggi, FA, Cincione, RI, Margaglione, M & Grandone, E 2010, 'Factor XI deficiency: Two novel mutations in asymptomatic Italian patients', Haemophilia, vol. 16, no. 5, pp. 767-770. https://doi.org/10.1111/j.1365-2516.2010.02241.x
Tomaiuolo, M. ; Favuzzi, G. ; Cappucci, F. ; Pisanelli, D. ; Tiscia, G. L. ; Musto, P. ; Scaraggi, F. A. ; Cincione, R. I. ; Margaglione, M. ; Grandone, E. / Factor XI deficiency : Two novel mutations in asymptomatic Italian patients. In: Haemophilia. 2010 ; Vol. 16, No. 5. pp. 767-770.
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