Clinical pictures and prevalence of factor VII deficiency in Northeastern of Iran

Mansouritorghabeh, Hassan; Badiei, Zahra; Noori, Feroz

doi:10.1111/j.1365-2516.2007.01568.x

Cited by 3 publications

(2 citation statements)

References 5 publications

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“…Therefore, specific factor analyses are essential in patients suspected of having CFD. 16 17 18 Other assays consider factors beyond clotting proteins, including the influence of platelet function, blood flow dynamics on platelet–endothelium interactions, and the contribution of red blood cells to the stability of the clot formation, as illustrated in Fig. 1 .…”

Section: Global Assays In Mbds and Bducmentioning

confidence: 99%

Utility of Global Hemostatic Assays in Patients with Bleeding Disorders of Unknown Cause

Mehic,

Assinger,

Gebhart

2024

Hamostaseologie

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Bleeding disorder of unknown cause (BDUC) is a diagnosis of exclusion after exhaustive evaluation of plasmatic coagulation and platelet function. This review explores the utility of global hemostatic assays as confirmatory tests and in elucidating the pathophysiology of BDUC. Unlike traditional hemostatic tests that focus on coagulation factors, global assays are conducted both in plasma and also whole blood. These assays provide a more comprehensive understanding of the cell-based model of coagulation, aid in the identification of plasmatic factor abnormalities that may reduce hemostatic capacity, and allow for the assessment of impaired platelet–endothelial interactions under shear stress, as well as hyperfibrinolytic states. While clinical tests such as skin bleeding time and global assays such as PFA-100 exhibit limited diagnostic capacity, the role of viscoelastic testing in identifying hemostatic dysfunction in patients with BDUC remains unclear. Thrombin generation assays have shown variable results in BDUC patients; some studies demonstrate differences compared with healthy controls or reference values, whereas others question its clinical utility. Fibrinolysis assessment in vitro remains challenging, with studies employing euglobulin clot lysis time, plasma clot lysis time, and fluorogenic plasmin generation yielding inconclusive or conflicting results. Notably, recent studies suggest that microfluidic analysis unveils shear-dependent platelet function defects in BDUC patients, undetected by conventional platelet function assays. Overall, global assays might be helpful for exploring underlying hemostatic impairments, when conventional hemostatic laboratory tests yield no results. However, due to limited data and/or discrepant results, further research is needed to evaluate the utility of global assays as screening tools.

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Section: Global Assays In Mbds and Bducmentioning

confidence: 99%

Utility of Global Hemostatic Assays in Patients with Bleeding Disorders of Unknown Cause

Mehic,

Assinger,

Gebhart

2024

Hamostaseologie

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“…FVII deficiency is a rare bleeding disorder with an incidence of 1 : 300 000, but it is high compared with the other rare hereditary coagulation factor deficiencies [9,10]. In countries with a high rate of consanguineous marriages, FVII deficiency is relatively frequent.…”

Section: Introductionmentioning

confidence: 99%

Factor VII Padua in Iran: clinical and laboratory findings of three unrelated patients

Shams

Hassani

Dorgalaleh³

et al. 2023

Blood Coagulation &Amp; Fibrinolysis

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The congenital factor VII (FVII) deficiency with an estimated incidence of one per 300 000 is the most common rare congenital bleeding disorder. The heterogeneous clinical pictures, including asymptomatic to life-threatening manifestations, are seen in patients with FVII deficiency. A variety of gene variants throughout the FVII (F7) gene have been reported so far. In this setting, very rare FVII Padua polymorphism provokes an interesting condition in which results of prothrombin time and FVII activity are different based on the thromboplastin sources used in these tests. The current study aimed to report the phenotype and genotyping of patients with Padua variant. During the workup of the laboratory for FVII deficiency for diagnosis of FVII Padua, all patients with FVII deficiency who had prolonged prothrombin time, normal activated partial thromboplastin time, and variable FVII activity results using different sources of thromboplastin were included. Demographic data and clinical findings were recorded. For the molecular study, the F7 gene sequencing was performed using the Sanger sequencing technique. Five patients with FVII Padua and a history of mild-to-moderate bleeding, including easy bruising, epistaxis, gingivorrhagia, and bleeding after surgical challenges (including dental extraction and tonsillectomy), were detected during the study. DNA sequencing revealed a heterozygote CGG to CAG (Arg364Gln) variant in exon 9 at nucleotide position 1091, consistent with the genetic variant of FVII Padua. Timely diagnosis of FVII Padua is vital to avoid unnecessary exposure of patients to replacement therapy.

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Bone Density Status in Bleeding Disorders: Where Are We and What Needs to Be Done?

Mansouritorghabeh

Rezaieyazdi

2017

J Bone Metab

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Bleeding disorders, including hemophilia, can be seen in every ethnic population in the world. Among various bleeding disorders, reduced bone density has been addressed in hemophilia A. In recent years, there has been an increasing interest in addressing osteopenia and osteoporosis in hemophilia A. There is little or no study about the possible susceptibility of other individuals with bleeding disorders to reduced bone density. Questions have been raised about the role of blood coagulation factors in bone mineralization. This review provides new insight and ideas for further survey in the field of bleeding disorders and reduced bone density.

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Clinical pictures and prevalence of factor VII deficiency in Northeastern of Iran

Cited by 3 publications

References 5 publications

Utility of Global Hemostatic Assays in Patients with Bleeding Disorders of Unknown Cause

Utility of Global Hemostatic Assays in Patients with Bleeding Disorders of Unknown Cause

Factor VII Padua in Iran: clinical and laboratory findings of three unrelated patients

Bone Density Status in Bleeding Disorders: Where Are We and What Needs to Be Done?

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