title: First cases of severe congenital factor XIII deficiency in Southwestern Afghanistan in the vicinity of southeast of Iran.
abstract: 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. During the course of the study, all patients suspected of FXIIID were clinically examined and assessed by routine coagulation tests, including bleeding time, activated partial thromboplastin time, prothrombin time, as well as platelet count and clot solubility test. Patients with normal routine coagulation tests, but abnormal clot solubility test, underwent further investigations by FXIII activity, as well as molecular analysis for FXIII-A gene mutation (Trp187Arg) by PCR-restriction fragment length polymorphism that confirmed by sequencing. Patients with confirmed FXIIID deficiency were registered to receive prophylaxis treatment. All data including demographic information, clinical manifestations, as well as therapeutic response and type and duration of treatment, were recorded, and the data were analyzed by SPSS software. In this cross-sectional study, we found five patients with abnormal clot solubility test, among whom two patients abandoned the study, whereas three patients remained for a more precise study. All the patients were residents of Zaranj city, the capital of Nimruz Province. All these patients had undetectable activity of FXIII, which indicates a severe deficiency. Molecular analysis of patients showed mutation of Trp187Arg in all of them. Hematoma was the most common clinical presentation leading to diagnosis of FXIIID in these patients (100%). Epistaxis (67%), gum bleeding (33%), and hematuria (33%) were other recurrent clinical presentations of the patients. Three cases of death due to FXIIID were detected in the family of these patients. There was a high prevalence of FXIIID in Zaranj city with a population of 50 000, which was appropriately equal to the prevalence of the disorder in southeast of Iran, which seemed to have the highest global prevalence of FXIIID, and underlines that the same mutation (Trp187Arg) in both regions is same.
authors.affiliation: aDepartment of Hematology and Blood Transfusion, School of Allied Medical, Iran University of Medical Sciences bDepartment of Hematology and Blood Transfusion, School of Allied Medical, Tehran University of Medical Sciences, Tehran cGenetics of Non-Communicable Disease Research Center, Zahedan University of Medical Sciences dDepartment of Pediatrics Hematology & Oncology, Ali Ebn-e Abitaleb Hospital Research Center for Children and Adolescents Health (RCCAH), Zahedan University of Medical Sciences, Zahedan, Iran eCivil Hospital Nimrooz, Zaranj, Nimrooz, Afghanistan fSchool of Nursing and Midwifery, Shahroud University of Medical Sciences, Shahroud gHormozgan Institute of Health, Hormozgan University of Medical Sciences, Bandar Abbas, Iran.
authors.forename: Soudabeh
authors.initials: S
authors.lastname: Hosseini
authors.forename: Akbar
authors.initials: A
authors.lastname: Dorgalaleh
authors.forename: Taregh
authors.initials: T
authors.lastname: Bamedi
authors.forename: Khanagha
authors.initials: K
authors.lastname: Tavakol
authors.forename: Shadi
authors.initials: S
authors.lastname: Tabibian
authors.forename: Majid
authors.initials: M
authors.lastname: Naderi
authors.forename: Shaban
authors.initials: S
authors.lastname: Alizadeh
authors.forename: Bijan
authors.initials: B
authors.lastname: Varmaghani
authors.forename: Morteza
authors.initials: M
authors.lastname: Shamsizadeh
authors.forename: Aziz
authors.initials: A
authors.lastname: Rahimizadeh
authors.forename: Sharif
authors.initials: S
authors.lastname: Ebrahimi
mesh_terms: D000293:Adolescent; D000346:Afghanistan / Q000453:epidemiology; D001780:Blood Coagulation Tests; D002648:Child; D003430:Cross-Sectional Studies; D004844:Epistaxis / Q000097:blood / Q000150:complications / Q000453:epidemiology / Q000235:genetics*; D005176:Factor XIII / Q000235:genetics*; D005177:Factor XIII Deficiency / Q000097:blood / Q000150:complications / Q000453:epidemiology / Q000235:genetics*; D005260:Female; D063285:Fibrin Clot Lysis Time; D030342:Genetic Diseases, Inborn / Q000097:blood / Q000150:complications / Q000453:epidemiology / Q000235:genetics*; D006406:Hematoma / Q000097:blood / Q000150:complications / Q000453:epidemiology / Q000235:genetics*; D006417:Hematuria / Q000097:blood / Q000150:complications / Q000453:epidemiology / Q000235:genetics*; D006801:Humans; D015994:Incidence; D007492:Iran / Q000453:epidemiology; D008297:Male; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D015995:Prevalence; D055815:Young Adult
chemical_list: D005176:Factor XIII