title: Establishment of a prenatal diagnosis schedule as part of a prophylaxis program of factor XIII deficiency in the southeast of Iran.
abstract: Factor XIII deficiency (FXIIID) is an extremely rare bleeding disorder with a prevalence of 1 in 3 million in the general population. Compared to its global incidence, it has the greatest prevalence in Sistan and Baluchistan Province in the southeast of Iran. The high incidence of FXIIID in this region causes a high rate of morbidity and mortality among the affected individuals because of life-threatening episodes such as central nervous system (CNS) bleeding, umbilical cord bleeding, as well as miscarriage. CNS bleeding leads to a considerable number of neurological and behavioral complications. Therefore, we have designed an established prenatal diagnosis (PND) program to prevent the increasing incidence of life-threatening bleeding episodes and related complications among neonates with congenital FXIIID. This study was conducted from September 2013 to August 2014. A consent form was signed by the parents. Fetal sampling was done via abdominal chorionic villus sampling passage under local anesthesia and ultrasonic guidance within the first trimester of pregnancy. Fetal DNA was extracted, and PCR-restriction fragment length polymorphism was performed for the only reported mutation of FXIII (Trp187Arg) in the southeast of Iran. During the period of study, PND was performed on eight fetuses. Six fetuses were offspring of parental consanguineous marriages, and all of them had a positive family history of FXIIID. Seven out of the eight fetuses had a family member with CNS bleeding due to FXIIID. Four fetuses had a FXIIID-related death. One of the fetuses bore homozygous Trp187Arg mutation, whereas six were heterozygous, and one of the mothers gave birth to an unaffected fetus. To the best of our knowledge, PND is a possible solution to control high incidence of life-threatening episodes of FXIIID in southeast Iran.
authors.affiliation: aDepartment of Pediatrics Hematology & Oncology, Ali Ebn-e Abitaleb Hospital Research Center for Children and Adolescents Health [RCCAH], Zahedan University of Medical Sciences, Zahedan bDepartment of Hematology, Allied Medical School, Students' Scientific Research Center, Tehran University of Medical Sciences, Tehran cDepartment of Hematology and Blood Transfusion, School of Allied Medicine, Iran University of Medical Sciences dDepartment of Hematology and Blood Transfusion, School of Allied Medicine, Tehran University of Medical Sciences eDepartment of Biochemistry, School of Allied Medicine, Tehran University of Medical Sciences, Tehran fGenetic of Non-Communicable Disease Researcher Center, Zahedan University of Medical Sciences, Zahedan, Iran.
authors.forename: Majid
authors.initials: M
authors.lastname: Naderi
authors.forename: Samira Esmaeili
authors.initials: SE
authors.lastname: Reykande
authors.forename: Akbar
authors.initials: A
authors.lastname: Dorgalaleh
authors.forename: Shaban
authors.initials: S
authors.lastname: Alizadeh
authors.forename: Shadi
authors.initials: S
authors.lastname: Tabibian
authors.forename: Nahid
authors.initials: N
authors.lastname: Einollahi
authors.forename: Ebrahim Miri
authors.initials: EM
authors.lastname: Moghaddam
mesh_terms: D005177:Factor XIII Deficiency / Q000175:diagnosis* / Q000453:epidemiology; D005260:Female; D006801:Humans; D007492:Iran; D008297:Male; D011296:Prenatal Diagnosis