Diagnosis, Clinical Manifestations and Management of Rare Bleeding Disorders in Iran

Sayed Ezatolla Rafiee Alavi, Lorestan University of Medical Sciences and Masumeh Jalalvand, Lorestan University of Medical Sciences and Shadi Tabibian, Iran University of Medical Sciences and Shahrzad Soori, Iran University of Medical Sciences and Es'hagh Moradi, Urmia University of Medical Sceinces and Taregh Bamedi, Iranshahr University of Medical Sciences and MansourAsadi, Tehran University of Medical Sciences and Akbar Dorgalaleh, Iran University of Medical Sciences and Morteza Shamsizadeh, Shahroud University of Medical Sciences (2016) Diagnosis, Clinical Manifestations and Management of Rare Bleeding Disorders in Iran. Hematology. ISSN 1024-5332

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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. Results and Discussion: 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 management of these patients. Conclusion: Since Iran has 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. Keywords: Rare bleeding disorder, Molecular analysis, Clinical manifestations, Management

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