Familiarity with different methods for diagnosis of FXIIID and their advantages and disadvantages can help in appropriate and timely diagnosis of this disorder to prevent misdiagnosis of FXIIID and its fatal consequences.

To cite this article: Dorgalaleh A, Farshi Y, Alizadeh SH, Naderi M, Tabibian SH, Kazemi A, Hosseini S. Challenges in implementation of ISTH diagnostic algorithm for diagnosis and classification of factor XIII deficiency in Iran. J Thromb Haemost 2015; 13: 1735-6.Factor XIII (FXIII) deficiency is an extremely rare hemorrhagic disorder with an~12-fold higher incidence in Iran compared with the overall prevalence of the disorder [1]. Consanguineous marriage is a major reason for the high incidence of this disorder in the Iranian population [1,2]. The high prevalence of FXIII deficiency in Iran requires more profound and extensive studies for the detection of other patients with mild bleeding disorders. The southeast of Iran (Sistan and Baluchestan Provinces) has the highest global incidence of FXIII deficiency, with 352 patients. Traditionally, FXIII deficiency is diagnosed by a clot solubility test in this province, as in other parts of the country [1]. After establishment of a molecular diagnosis for FXIII deficiency in the southeast of Iran, the number of patients dramatically increased, which highlighted the low sensitivity of the clot solubility test for the detection of FXIII deficiency [1,2]. In fact, a considerable number of patients with FXIII deficiency were undiagnosed through use of the clot solubility test. Although clinical presentations are strongly suggestive of FXIII deficiency, precise diagnosis of this disorder requires more-specific laboratory tests. For this purpose, an algorithm was recommended for the diagnosis and classification of FXIII deficiency. This algorithm includes plasma FXIII activity, FXIII-A2B2, FXIII-A, and FXIII-B antigen levels, as well as FXIII activity and FXIII-A antigen in platelets. Detection of autoantibodies against FXIII subunits, SDS-PAGE, and molecular diagnosis form other parts of this algorithm [3]. Although this algorithm presents a complete and convenient laboratory approach for the diagnosis and classification of FXIII deficiency, its application is limited in Iran. The low number of patients is the most important cause of this limitation, which leads to low investment for establishment of full laboratory tests for this bleeding disorder. Although factor activity and antigen assays for most other rare bleeding disorders are available in a number of coagulation laboratories, due to higher costs of the FXIII activity kit and the concentration of most patients in the southeast of Iran, the establishment of FXIII activity and antigen assays has been limited. Therefore, the clot solubility test has remained the first-line screening test for the detection of FXIII deficiency in all coagulation laboratories in Iran [1,4]. The procedures for detection of FXIII activity and inhibitors have been recently set up in a coagulation laboratory as a part of a research study [5].Although the clot solubility test alone is not suitable for FXIII deficiency screening, it has been performed for the confirmation of FXIII deficiency as a screening test in Iran in combination with fam...

Intracerebral hemorrhage (ICH) is the most dreaded complication, and the main cause of death, in patients with congenital bleeding disorders. ICH can occur in all congenital bleeding disorders, ranging from mild, like some platelet function disorders, to severe disorders such as hemophilia A, which can cause catastrophic hemorrhage. While extremely rare in mild bleeding disorders, ICH is common in severe coagulation factor (F) XIII deficiency. ICH can be spontaneous or trauma-related. Spontaneous ICH occurs more often in adults, while trauma-related ICH is more prevalent in children. Risk factors that can affect the occurrence of ICH include the type of bleeding disorder and its severity, genotype and genetic polymorphisms, type of delivery, and sports and other activities. Patients with hemophilia A; afibrinogenemia; FXIII, FX, and FVII deficiencies; and type 3 von Willebrand disease are more susceptible than those with mild platelet function disorders, FV, FXI, combined FV–FVIII deficiencies, and type 1 von Willebrand disease. Generally, the more severe the disorder, the more likely the occurrence of ICH. Contact sports and activities can provoke ICH, while safe and noncontact sports present more benefit than danger. An important risk factor is stressful delivery, whether it is prolonged or by vacuum extraction. These should be avoided in patients with congenital bleeding disorders. Familiarity with all risk factors of ICH can help prevent occurrence of this diathesis and reduce related morbidity and mortality.

Background and objective: Alpha-thalassemia is one of the most recessively congenital hemoglobin disorders in the world, and is characterized by decreased or absence of alpha globin chains production. Although it has been suggested that the frequency of alpha-thalassemia in Iran is greater than worldwide, its exact rate is unknown. Due to lack of more studies on this topic in this area, the aim of the present study was to determine prevalence and molecular characterization of alpha-thalassemia among newborns in Ardabil Province. Methods: In this cross-sectional study, one thousand newborns were referred for screening of alpha thalassemia at a pediatric unit in Ardabil province between April 2016 and March 2018. Cases with Mean Corpuscular Volume (MCV) <100 fL and Mean Corpuscular Hemoglobin (MCH) < 33 pg were referred for serum Ferritin measurement, Hb electrophoresis and then genetic analysis. Collected data were analyzed by statistical methods such as number, percent and Mean±SD in SPSS version 21. Results:The prevalence of α-thalassemia in studied newborns was 3.3% in Ardabil province. The most common mutation was the 3.7 single gene deletions that were found in 42.4% (14 cases) of newborns with α-Thalassemia. Conclusions: Results showed that, the prevalence of α-thalassemia in Ardabil province was lower than the average rate for the country and the most common mutation was -α 3.7 /αα, which was similar to other places in Iran.