title: Diagnosis, clinical manifestations and management of rare bleeding disorders in Iran.
abstract: BACKGROUND
  Rare bleeding disorders (RBDs) are heterogeneous disorders, mostly inherited in an autosomal recessive pattern. Iran is a Mideast country with a high rate of consanguinity that has a high rate of RBDs.
  
  
  OBJECTIVE
  In this study, we present prevalence and clinical presentation as well as management and genetic defects of Iranian patients with RBDs.
  
  
  METHODS
  For this study, all relevant publications were searched in Medlin until 2015.
  
  
  CONCLUSIONS
  Iran has the highest global incidence of factor XIII deficiency. Factor VII deficiency also is common in Iran, while factor II deficiency, with a prevalence of 1 per ∼3 million, is the rarest form of RBDs. Factor activity is available for all RBDs except for factor XIII deficiency, in which clot solubility remains as a diagnostic test. Molecular analysis of Iranian patients with RBDs revealed a few recurrent, common mutations only in patients with factor XIII deficiency, and considerable novel mutations in other RBDs. Clinical manifestations of these patients are variable and patients with factor XIII, factor X and factor VII more commonly presented severe life-threatening bleeding, while patients with combined factor V and factor VIII presented a milder phenotype. Plasma-derived products are the most common therapeutic choice in Iran, used prophylactically or on-demand for the management of these patients.
  
  
  CONCLUSIONS
  Since Iran has a high rate of RBDs with life-threatening bleeding, molecular studies can be used for carrier detection and, therefore, prevention of the further expansion of these disorders and their fatal consequence.
authors.affiliation: a Departments of Hematology and Blood Transfusion , School of Allied Medicine, Iran University of Medical Sciences , Tehran , Iran.
authors.forename: Akbar
authors.initials: A
authors.lastname: Dorgalaleh
authors.affiliation: b Department of Pathology, Faculty of Medicine , Lorestan University of Medical Sciences , Khorramabad , Iran.
authors.forename: Sayed Ezatolla Rafiee
authors.initials: SE
authors.lastname: Alavi
authors.affiliation: a Departments of Hematology and Blood Transfusion , School of Allied Medicine, Iran University of Medical Sciences , Tehran , Iran.
authors.forename: Shadi
authors.initials: S
authors.lastname: Tabibian
authors.affiliation: a Departments of Hematology and Blood Transfusion , School of Allied Medicine, Iran University of Medical Sciences , Tehran , Iran.
authors.forename: Shahrzad
authors.initials: S
authors.lastname: Soori
authors.affiliation: c Education Development Center(EDC), Urmia University of Medical Sciences , Urmia , Iran.
authors.forename: Es'hagh
authors.initials: E
authors.lastname: Moradi
authors.affiliation: d Department of Parasitology , Iranshahr University of Medical Sciences , Iranshahr , Iran.
authors.forename: Taregh
authors.initials: T
authors.lastname: Bamedi
authors.affiliation: e Departments of Radiology , Tehran University of Medical Sciences , Tehran , Iran.
authors.forename: Mansour
authors.initials: M
authors.lastname: Asadi
authors.affiliation: f Department of Biotechnology, Faculty of Medicine , Lorestan University of Medical Sciences , Khorramabad , Iran.
authors.forename: Masumeh
authors.initials: M
authors.lastname: Jalalvand
authors.affiliation: g School of Nursing and Midwifery, Shahroud University of Medical Sciences , Shahroud , Iran.
authors.forename: Morteza
authors.initials: M
authors.lastname: Shamsizadeh
mesh_terms: D000293:Adolescent; D000328:Adult; D001778:Blood Coagulation Disorders / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics; D005260:Female; D006470:Hemorrhage / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics; D006801:Humans; D007492:Iran / Q000453:epidemiology; D008297:Male; D035583:Rare Diseases / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics
keywords: Rare bleeding disorder; clinical manifestations; management; molecular analysis