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

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.

Hemophilia in Iran.

Background: Hemophilia A (HA) and B (HB) are common bleeding disorders, Iran having the ninth largest such population in the world. A considerable number of studies have been performed on different aspects of their disorder.

Objective: The aim of the study was to gather all obtainable data about Iranian patients with HA and HB, including molecular studies, clinical presentations and treatment, and development and management of patients with inhibitor, to help better understand the disease and its management in other parts of the world.

First cases of severe congenital factor XIII deficiency in Southwestern Afghanistan in the vicinity of southeast of Iran.

Factor XIII deficiency (FXIIID) is an extremely rare bleeding disorder with the highest global incidence in southeast of Iran. Southwestern Afghanistan (Nimruz Province) is located near the border with Iran in the vicinity of Sistan and Baluchestan Province in southeast Iran, and there seems to be a high prevalence of FXIIID in Nimruz. Thus, this cross-sectional study was designed to assess the prevalence of FXIIID, molecular basis as well as clinical manifestations of FXIIID in Southwestern Afghanistan.

Congenital factor V deficiency: comparison of the severity of clinical presentations among patients with rare bleeding disorders.

Background: Factor V deficiency (FVD) is a rare bleeding disorder (RBD) mostly present in regions with a high rate of consanguinity. FVD after FXIII deficiency is the next more prevalent RBD in Sistan and Baluchistan (S&B) in southeastern Iran. The aim of this study was to evaluate the clinical manifestations and severity of bleeding diathesis in patients with FVD.

Clinical manifestations and management of life-threatening bleeding in the largest group of patients with severe factor XIII deficiency.

Factor XIII (FXIII) deficiency is a rare hemorrhagic disorder for which the highest incidence occurs in southeast Iran. The aim of this study was to assess molecular characteristics, clinical manifestations and management of life-threatening diathesis in FXIII deficiency. This study was conducted on 190 patients with FXIII deficiency.

Central nervous system bleeding in pediatric patients with factor XIII deficiency: a study on 23 new cases.

Background: Factor XIII (FXIII) deficiency is an extremely rare bleeding disorder, which has the highest incidence in Sistan and Baluchistan Province in Iran, compared to its overall incidence around the world. This disorder has different clinical manifestations ranging from mild bleeding tendency to lethal bleeding episodes including central nervous system (CNS) hemorrhage. The aim of this study was to evaluate the demographic data, pattern of CNS bleeding, and the role of plasminogen activator inhibitor-1 (PAI-1) (PAI-1) 4G/5G and thrombin activatable fibrinolysis inhibitor (TAFI) Thr325Ile polymorphisms in intracranial and extracranial hemorrhages in 23 new cases of FXIII-deficient subjects.

Anemia and thrombocytopenia in acute and chronic renal failure.

Background: Acute renal failure describes as a syndrome by rapid decline in the ability of the kidney to eliminate waste products, regulate acid-base balance, and manage water homeostasis. When this impairment is prolonged and entered chronic phase, erythropoietin secretion by this organ is decreasing and toxic metabolic accumulates and causes hematological changes include decrease of HCT, MCV and RBC and platelet counts. This study evaluates present of anemia and thrombocytopenia in patients with acute and chronic renal failure.

Evaluation of complement regulatory components in patients with atypical hemolytic uremic syndrome.

Background: Atypical hemolytic uremic syndrome (aHUS), a rare disorder characterized by thrombocytopenia, microangiopathic hemolytic anemia, and acute renal failure, is associated with mutations and polymorphisms in various components and regulators of the complement alternative pathway (AP), including factor H, factor I, membrane cofactor protein (MCP or CD46) and factor B. This impaired regulation of the alternative pathway leads to a procoagulant state with microthrombi formation in the renal vasculature, which influences disease onset and progression.

Aim Of The Study: To evaluate the role of complement regulatory factors in occurrence of aHUS; we also included evaluation of ADAMTS13 activity and autoantibody against ADAMTS13 in order to exclude thrombotic thrombocytopenic purpura (TTP) cases, which might have overlapping clinical and laboratory findings.

A prospective study of tubular dysfunction in pediatric patients with Beta thalassemia major receiving deferasirox.

Background: Beta thalassemia major is a lifelong transfusion-dependent disorder. Transfusion-dependent thalassemia patients are prone to develop renal dysfunction due to iron overload, chronic anemia, and/or chelation therapy.

Methods: In this prospective study, thalassemia patients who fitted inclusion and exclusion criteria received Deferasirox 20 mg/kg/day.