High incidence of <scp>FXI</scp> deficiency in a Spanish town caused by 11 different mutations and the first duplication of <i>F11</i>: Results from the Yecla study

Esteban, Julio; Morena‐Barrio, María Eugenia de la; Salloum-Asfar, Salam; Padilla, José; Miñano, Antonia; Roldán, Vanessa; Soria, José Manuel Nieto; Vidal, Francisco; Corral, Javier; Vicente, Vicente

doi:10.1111/hae.13356

Cited by 25 publications

(26 citation statements)

References 26 publications

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“…Our study is limited by the small sample size from a single institution. Even with recent estimates of a heterozygous frequency as high as one in 300, a large, multicenter study would still be required to determine the true prevalence of children with hemophilia C who have a normal aPTT without factor replacement . Also, as the combined effect of all intrinsic factor activities can affect the aPTT, our study would have been further strengthened if intrinsic factor activities were available for all subjects.…”

Section: Discussionmentioning

confidence: 99%

“…A more contemporary study of 60,000 inhabitants of a south‐eastern Spanish town found 216 subjects with factor XI deficiency. Nearly one‐third of the subjects had a nearly normal aPTT . Again, it is unclear how many of these subjects were children.…”

Section: Introductionmentioning

confidence: 99%

“…Nearly one-third of the subjects had a nearly normal aPTT. 5 Again, it is unclear how many of these subjects were children. Investigations focused on aPTT reagents have Abbreviations: aPTT, activated partial thromboplastin time; dl, deciliter; IU, international unit; ND, not done also reported subjects with factor XI deficiency and a normal aPTT.…”

Section: Introductionmentioning

confidence: 99%

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Normal aPTT in children with mild factor XI deficiency

Puetz

Hugge

Moser

2017

Pediatric Blood & Cancer

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It has been suggested that persons with factor XI deficiency can have a normal activated partial thromboplastin time (aPTT). This notion is based on limited data, especially in children. Because of the central role the aPTT plays in diagnostic algorithms for bleeding disorders, it is important to know if a normal aPTT eliminates the need for factor XI activity testing. Our institutional database contains seven children with factor XI deficiency, of whom four have a normal aPTT. This supports the hypothesis that children with factor XI deficiency can have a normal aPTT. Clinicians may wish to consider this evidence when evaluating children with abnormal bleeding.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Normal aPTT in children with mild factor XI deficiency

Puetz

Hugge

Moser

2017

Pediatric Blood & Cancer

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“…This population-based cohort study supplies new evidence that FXI deficiency in Caucasians is more common than previously thought and confirmed the wide underlying genetic heterogeneity. 75…”

Section: Hts As a Clinical Epidemiological Toolmentioning

confidence: 99%

Molecular Diagnosis of Inherited Coagulation and Bleeding Disorders

Bastida

Benito

Lozano

et al. 2019

Semin Thromb Hemost

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Diagnosis of inherited bleeding disorders (IBDs) remains challenging, especially in the case of inherited platelet disorders, due to the heterogeneity of the clinical and laboratory phenotype, the limited specificity of platelet function tests, and the large number of potential culprit genes. Unraveling the underlying molecular defect provides the definitive diagnosis of IBDs, facilitating prognosis and clinical care, which are especially important for severe clinical syndromes and those that may be associated with an increased risk of malignancy. Until recently, Sanger sequencing of candidate genes has been the only method of molecular diagnosis, but this approach is time-consuming and costly and requires phenotype-based identification of any obvious candidate gene(s). Nowadays, high-throughput sequencing (HTS) allows the simultaneous and rapid investigation of multiple genes at a manageable cost. This HTS technology that includes targeted sequencing of prespecified genes, whole-exome sequencing, or whole-genome sequencing, is revolutionizing the genetic diagnosis of human diseases. Through its extensive implementation in research and clinical practice, HTS is rapidly improving the molecular characterization of IBDs. However, despite the availability of this powerful approach, many patients still do not receive a diagnosis. As IBDs are complex and rare diseases, development of more advanced laboratory assays, improvements in bioinformatic pipelines, and the formation of multidisciplinary teams are encouraged to advance our understanding of IBDs.

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“…Although it was first described prevalent in exclusively etnias (Ashkenazy or Iraqi-Jewish), it seems to be misdiagnosed and not so exclusive, with a potential high prevalence at least in heterozygosis, also in Europe. 1 Moreover, acquired deficiency can occur with the presence of inhibitors or antibodies such as antiphospholipid as β2-glycoprotein I. 2 Whether or not COVID-19 contributing to the appearance of antiphospholipid antibodies, is still unclear and requires further studies.…”

mentioning

confidence: 99%

High incidence of FXI deficiency in a Spanish town caused by 11 different mutations and the first duplication of F11: Results from the Yecla study

Abstract: Our population-cohort study supplies new evidences that FXI deficiency in Caucasians is more common than previously thought and confirmed the wide underlying genetic heterogeneity, caused by both recurrent and sporadic mutations.

Cited by 25 publications

References 26 publications

Normal aPTT in children with mild factor XI deficiency

Normal aPTT in children with mild factor XI deficiency

Molecular Diagnosis of Inherited Coagulation and Bleeding Disorders

Commentary on Acquired Factor XI Deficiency during SARS-CoV-2 Infection: Not Only Thrombosis

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