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ArticleBiomedical papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia2025

Dysfibrinogenemia and hypofibrinogenemia - Spectrum of pathogenic variants in Slovak patients.

Dominika Jaraskova, Jan Chandoga, Angelika Batorova, Tatiana Prigancova, Miriama Juhosova, Pavol Durina, Alzbeta Vavrova, Silvia Dallemule, Robert Petrovic, Anna Kyselova and 2 more

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Article in Biomedical papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

12 authors.

Dominika JaraskovaInstitute of Medical Biology, Genetics and Clinical Genetics, Faculty of Medicine and University Hospital Bratislava, Comenius University, Bratislava, Slovakia.
Jan ChandogaInstitute of Medical Biology, Genetics and Clinical Genetics, Faculty of Medicine and University Hospital Bratislava, Comenius University, Bratislava, Slovakia.
Angelika BatorovaNational Haemophilia Centre, Department of Haematology, Faculty of Medicine, Comenius University and University Hospital Bratislava, Bratislava, Slovakia.
Tatiana PrigancovaNational Haemophilia Centre, Department of Haematology, Faculty of Medicine, Comenius University and University Hospital Bratislava, Bratislava, Slovakia.
Miriama JuhosovaInstitute of Medical Biology, Genetics and Clinical Genetics, Faculty of Medicine and University Hospital Bratislava, Comenius University, Bratislava, Slovakia.
Pavol DurinaInstitute of Medical Biology, Genetics and Clinical Genetics, Faculty of Medicine and University Hospital Bratislava, Comenius University, Bratislava, Slovakia.
Alzbeta VavrovaInstitute of Medical Biology, Genetics and Clinical Genetics, Faculty of Medicine and University Hospital Bratislava, Comenius University, Bratislava, Slovakia.
Silvia DallemuleInstitute of Medical Biology, Genetics and Clinical Genetics, Faculty of Medicine and University Hospital Bratislava, Comenius University, Bratislava, Slovakia.
Robert PetrovicInstitute of Medical Biology, Genetics and Clinical Genetics, Faculty of Medicine and University Hospital Bratislava, Comenius University, Bratislava, Slovakia.
Anna KyselovaNational Haemophilia Centre, Department of Haematology, Faculty of Medicine, Comenius University and University Hospital Bratislava, Bratislava, Slovakia.
Denisa JankovicovaNational Haemophilia Centre, Department of Haematology, Faculty of Medicine, Comenius University and University Hospital Bratislava, Bratislava, Slovakia.
Daniel BohmerInstitute of Medical Biology, Genetics and Clinical Genetics, Faculty of Medicine and University Hospital Bratislava, Comenius University, Bratislava, Slovakia.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

introductionCongenital hypofibrinogenemia (CH) and congenital dysfibrinogenemia (CD) are rare coagulation disorders caused by quantitative or qualitative defects in the fibrinogen gene. The aim of this study was to characterize the genetic background and the clinical manifestations of congenital fibrinogen disorders in the patients from Slovakia registered at the National Haemophilia Centre. MATERIALS AND

methodsResults of genetic analysis of the fibrinogen genes FGA, FGB and FGG using polymerase chain reaction followed by direct sequencing were evaluated in 36 patients.

resultsMolecular-genetic analysis revealed six novel variants - FGA c.923_968dup p.(Gly324Lysfs*44) and FGG c.1105C>T p.(His369Tyr) were identified in CD patients. In CH patients, in the FGG gene c.8G>A p.(Trp3*), c.823G>T p.(Glu275*) and c.323C>A p.(Ala108Asp) variants were detected. In the FGB gene c.1427C>T p.(Ser476Leu) was identified.

conclusionThis study is a positive contribution towards expanding knowledge about genetic variants in patients with congenital fibrinogen disorders.

Indexed as

AfibrinogenemiaFibrinogenAdolescentAdultChildChild, PreschoolFemaleHumansInfantMaleMiddle AgedSlovakiaYoung AdultFibrinogendysfibrinogenemiaFGAFGBFGGhypofibrinogenemia

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