Molecular characterization of iranian patients with inherited coagulation factor VII deficiency

Shahbazi, Shirin; Mahdian, Reza; Karimi, Katayoun; Mashayekhi, Amir

doi:10.1515/bjmg-2017-0027

Cited by 3 publications

(3 citation statements)

References 30 publications

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“…In accordance with previously reported data, our cases with Padua variant could be classified into two groups: asymptomatic patients (pedigree A), if do not consider easy bruising because of the unreliability of this symptom as reported by the patients; and paucisymptomatic patients with a history of mild-to-moderate bleeding, who presented easy bruising, epistaxis, gingivorrhagia, bleeding after surgical challenges (including dental extraction and tonsillectomy) (pedigrees B and C). Moreover, a number of studies have shown that heterozygous and homozygous Padua mutation could be associated with clinical symptoms like easy bruising, epistaxis, oral cavity bleeding, and abundant menstruations [24][25][26], but the majority of subjects with Padua variant in heterozygous and homozygous state are asymptomatic [4,27]. Like platelet function disorders and the majority of patients with FVII deficiency, our patients also had the minor bleeding manifestations [28].…”

Section: Discussionmentioning

confidence: 77%

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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Section: Discussionmentioning

confidence: 77%

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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“…Heterozygous individuals have approximately 50% of normal coagulation factor levels and usually lack clinical symptoms, but this is not always the case, and occasionally, a heterozygote may have significant bleeding events. In such cases, the coexistence of a polymorphism affecting the FVII level might be the underlying cause (31,57). Based on activity and antigen levels, FVII deficiency is divided into three categories: CRM -(cross-reacting material negative), CRM + , and CRM red (58).…”

Section: Fvii Deficiencymentioning

confidence: 99%

Coagulation Factor VII: Genetic, Molecular, and Clinical Characteristics

Mashayekhi

Ghasemi

2022

Trends in Med Sci

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: Coagulation factor VII (FVII) is a vitamin K-dependent serine protease that plays a pivotal role in normal hemostasis. Mature FVII is a glycoprotein comprised γ-carboxyglutamic acid-rich (Gla) domain, two epidermal growth factor (EGF)-like domains, an activation domain, and a serine protease domain. FVII requires proteolytic activation followed by tissue factor (TF) binding for maximal activity. The F7 gene (14.8 kb) is located on 13q34, composed of nine exons and eight introns. The congenital FVII deficiency is a rare coagulopathy with an autosomal recessive pattern of inheritance that occurs due to mutation in the F7 gene. A considerable number of mutations of different types have been identified throughout this gene affecting the expression, structure, and post-translational alterations of the protein. FVII deficiency is the most frequently recessively inherited bleeding disorder. Subjects with FVII deficiency show a wide range of symptoms, including cutaneous hemorrhage, mucosal hemorrhage, gastrointestinal bleeding, joint bleeding, and central nervous system (CNS) hemorrhage. Unlike other coagulation factor deficiencies, serum levels of FVII do not demonstrate the severity of the disease, and there is no direct correlation between serum levels and clinical complications. Replacement therapy is the treatment of choice for FVII deficiency. Various therapeutic products such as prothrombin complex concentrate, plasma-derived FVII concentrate, fresh frozen plasma, and activated recombinant FVII are available to treat FVII deficient individuals. This review aims to provide information on molecular, biochemical, and clinical aspects of coagulation FVII, its role in hemostasis, and the consequences of its deficiency.

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“…CNKI, WanFang, and PubMed databases were searched for relevant articles published nearly five years using the keywords of "compound heterozygous mutation; FVII deficiency" in Chinese and English, respectively. There were 3 Chinese articles [8][9][10] and 5 English articles [11][12][13][14][15] concerning hereditary FVII deficiency on case report. Complete clinical data from 11 cases of hereditary FVII deficiency were analyzed, including 3 males and 8 females.…”

Section: Literature Reviewmentioning

confidence: 99%

A novel compound heterozygous mutation of F7 gene identified in an infant with hereditary factor VII deficiency and literature review

Wang¹,

Ai²,

Liu³

et al. 2020

Preprint

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Hereditary factor VII (FVII) deficiency is a rare autosomal recessive disorder, characterized by decreasing the coagulation activity of FVII in plasma and heterogeneous with bleeding in different degrees. Hereditary factor VII deficiency is usually caused by missense mutations in the F7 gene, which may affect the structure and function of FVII. Here we present a case of hereditary factor VII deficiency in an infant who was found to have a prolonged prothrombin time(PT)and 2.0% of FVII activity. Molecular studies revealed a novel compound heterozygous mutation of the F7 gene, which confirmed the diagnosis of hereditary factor VII deficiency.

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Molecular characterization of iranian patients with inherited coagulation factor VII deficiency

Cited by 3 publications

References 30 publications

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

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

Coagulation Factor VII: Genetic, Molecular, and Clinical Characteristics

A novel compound heterozygous mutation of F7 gene identified in an infant with hereditary factor VII deficiency and literature review

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