Diagnosis, clinical manifestations and management of rare bleeding disorders in Iran

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 the
management of these patients.
Conclusion: 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