Phenotype and genotype report on homozygous and heterozygous patients with congenital factor X deficiency

Karimi, Mehran; Menegatti, Marzia; Afrasiabi, Abdolreza; Sarikhani, Sanaz; Peyvandi, Flora

doi:10.3324/haematol.12211

Cited by 49 publications

(52 citation statements)

References 22 publications

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“…We also found that the heterozygous individuals with factor X and XIII deficiencies had massive and uncontrolled bleedings during minor operations and minor traumas, respectively. This finding in factor X heterozygous individuals is compatible with a previous study [22]. Heterozygous Bernard-Soulier syndrome individuals also had significantly higher incidence of massive bleeding during delivery and hypermenorrhea.…”

Section: Discussionsupporting

confidence: 93%

Bleeding symptoms in heterozygous carriers of inherited coagulation disorders in southern Iran

Mahmoodi

Peyvandi

Afrasiabi

et al. 2011

Blood Coagulation & Fibrinolysis

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The objective of the present study was to investigate the prevalence of bleeding symptoms in individuals who are heterozygous for recessively inherited coagulation disorders (RICDs) and to determine the association of these bleeding symptoms with type of RICDs. This was a retrospective cross-sectional study being performed in Shiraz Hemophilia Society (Shiraz, Southern Iran). In this study, bleeding symptoms of the parents (heterozygous) of the patients (homozygous) who were registered and had definite diagnosis as autosomal recessive coagulation disorder were evaluated. These inherited disorders include factor I, V, VII, X, XI, XIII deficiency, combined factor VII and X deficiency, combined factor V and VIII deficiency, all platelet disorders and von Willebrand disease (VWD) type III. 50.3% individuals underwent genotype and mutation study to confirm their heterozygosity. We included 350 heterozygote individuals for inherited coagulation disorders among whom there were 175 (50%) men and 175 (50%) women. Those who were heterozygous for factor VII deficiency had significantly higher prevalence of subcutaneous hematoma (P=0.011). In the same way heterozygous patients for Bernard-Soulier syndrome had higher prevalence of hypermenorrhea (P=0.012) and obstetric (normal vaginal delivery or cesarean delivery) bleeding (P=0.012). Heterozygosity for factor X and XIII deficiency was associated with prolonged or massive bleeding during operations (P=0.001) and after minor traumas (P=0.019), respectively. Heterozygosity for RICDs is associated with some bleeding symptoms. Thus bleeding tendency and homeostasis disturbance should be kept in mind in those who are heterozygous for RICDs and more preoperative care and correction of coagulation indices is highly recommended.

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Section: Discussionsupporting

confidence: 93%

Bleeding symptoms in heterozygous carriers of inherited coagulation disorders in southern Iran

Mahmoodi

Peyvandi

Afrasiabi

et al. 2011

Blood Coagulation & Fibrinolysis

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“…Menorrhagia, spontaneous abortion, and bleeding during vaginal delivery were reported in ;20% of women with all deficiencies. [17][18][19] Women with RBDs require specific attention and care; in addition to the common bleeding symptoms, they may also experience gynecologic bleeding. 20,21 Beyond menorrhagia, affected females are at increased risk of hemorrhagic ovarian cysts, endometriosis, endometrial hyperplasia, polyps, and fibroids.…”

Section: Clinical Symptomsmentioning

confidence: 99%

Rare bleeding disorders: diagnosis and treatment

Palla

Peyvandi

Shapiro

2015

Blood

267

258

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Despite the worldwide prevalence of rare bleeding disorders (RBDs), knowledge of these conditions and their management is suboptimal; health care professionals often have little diagnostic and treatment experience with variable access to diagnostic modalities required for accurate identification. Therefore, patients often experience morbidity and mortality due to delayed diagnosis. As RBDs represent a small potential commercial market, few, if any, specific therapies exist for these conditions. As a result, affected individuals commonly face delayed diagnosis, incomplete laboratory evaluation, and limited treatment options. Standardization and customization of coagulation assays, full genome sequencing, and global clotting assays will significantly improve diagnosis of patients with RBDs. In addition, new therapeutic modalities, both recombinant and plasma derived, are emerging, at least in developed countries. Registries and clinical trials have demonstrated decreased bleeding and improved outcomes when patients are appropriately diagnosed and properly treated. Expansion and harmonization of international registries has been initiated to correlate genotype, laboratory, and clinical phenotypes including bleeding severity to improve the diagnosis and therapeutic approach. This review focuses on the latest advances in our understanding, diagnosis, and treatment of RBDs.

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“… demonstrated three mutations being associated with ICH: Gly380arg, splice site mutation IVS/‐1G>A, and Tyr163delAT; however, Karimi et al. were not able to confirm these findings. Using linear regression analysis, Peyvandi et al.…”

Section: Discussionmentioning

confidence: 66%

Intracranial Hemorrhage as the First Manifestation of Severe Congenital Factor X Deficiency in a 20‐Month‐Old Male: Case Report and Review of the Literature

Diesch

Weid

Schifferli

et al. 2016

Pediatric Blood & Cancer

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Factor X deficiency (FXD) is a rare bleeding disorder, which can result in severe bleeding symptoms such as intracranial hemorrhage (ICH). The most common bleeding symptoms are epistaxis and gum bleeding. ICH is reported in 9-26% of all patients with FXD, mostly during the first month of life. Here, we present a rare case of a male presenting with ICH at the age of 20 months as the first manifestation of FXD. Secondary prophylaxis with factor X substitution once weekly prevented further bleeding.

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Phenotype and genotype report on homozygous and heterozygous patients with congenital factor X deficiency

Cited by 49 publications

References 22 publications

Bleeding symptoms in heterozygous carriers of inherited coagulation disorders in southern Iran

Bleeding symptoms in heterozygous carriers of inherited coagulation disorders in southern Iran

Rare bleeding disorders: diagnosis and treatment

Intracranial Hemorrhage as the First Manifestation of Severe Congenital Factor X Deficiency in a 20‐Month‐Old Male: Case Report and Review of the Literature

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