Extensive Hematoma in a Patient with HereditaryHypersegmentation of Neutrophils

 Erratum: The correct affiliation of corresponding author of this manuscript has been edited as follows:"Akbar Dorgalaleh: Department of Hematology and Blood Transfusion, School of Allied Medical Sciences, Iran University of Medical Sciences, Tehran, Iran."Hypercoagulable states are a group of conditions associated with an enhanced tendency toward blood clotting. Although usual clinical manifestations of hypercoagulable states are thrombotic events such as deep venous thrombosis, hematoma can also occurs as a result of hypercoagulability in some patients. Several inherited or acquired conditions may lead to hypercoagulable states. Some of them include myeloproliferative syndromes, over activity of coagulation factors and methyltetrahydrofolateee reductase (MTHFR) polymorphisms. MTHFR is required for convertingthe amino acid   homocysteine to methionine. Another significant role of an aptly functioning MTHFR enzyme is nucleic acid biosynthesis. Therefore MTHFR polymorphisms are expected to be associated with hypersegmentation of neutrophils because of a defect in DNA metabolism. Neutrophil hypersegmentation is one of the most sensitive haematological features of cobalamin or folate deficiency with normal serum vitamin B12-folic acid and iron levels. Hypersegmentation of neutrophils and hematoma which  both of them suspected to be  due to gene variations of MTHFR. Here we report a 37 years old female who simultaneously affected by hereditary hypersegmentation and extensive hematoma. Laboratory analysis revealed normal serum vitamin B12, folic acid and iron levels. Routine and specific coagulation tests were normal in except of factor VIIIc that was high. Results of complete blood cell count (CBC) test were normal. Although this is just an idea, but simultaneous presentations of these two conditions can have a common origin

Severe Congenital Deficiency of Factor XIII: A Brief Report of Morbidity and Mortality Rates of Severe Congenital Deficiency of Factor 13 in Iran

Background: Factor XIII (FXIII) deficiency is a bleeding disorder and it inherited in an autosomal recessive manner. in areas where consanguineous marriage is common, it has high prevalence. Iran as a Middle East country comprise the high rate of consanguinity in nearly half of patients with severe congenital FXIII deficiency (FXIIID). The most common mutation in Iranian population is Trp187Arg. In these patients occure life- threatening bleeding including central nervous system (CNS) bleeding, umbilical cord bleeding and recurrent miscarriage that have high rate of morbidity and mortality. The aim of this study was to investigate morbidity and mortality rate among these patients and the reasons for it. Materials and Methods:In this systematic review we  studied all published paper in the field of FXIIID factor deficiency in Iran until 2015 via searching in databases and search engine such as Sciencedirect, scientific information database (SID), PubMed and Google scholar. Results: Among 308 patients with FXIIID, 108 cases had experienced CNS bleeding (CNSB) that in 23 cases had associated with rebleeding. in 72 patients have occured different types of neurological complications after  central nervous system bleeding. A total of 63 recurrent miscarriages were observed in 30 women and 21 deaths were registered due to umbilical cord bleeding or mucosal bleedings. Conclusion: Due to high rate of morbidity and mortality among patients with FXIIID, early diagnosis of disease, prophylaxis treatment and intensive health care should be considered among these patients

A unique factor XIII mutation in southeastern Iran with an unexpectedly high prevalence: khash factor XIII

Congenital factor XIII (FXIII) deficiency is an extremely rare hemorrhagic disorder characterized by a deficiency of FXIII and associated with a high rate of morbidity and mortality. The disorder is more frequent in Iran, especially in Khash, a city in the southeast of the country. As identified in the current report, the prevalence of FXIII deficiency in this city is 1 homozygote per approximately 500 population (which is ∼4,000 times higher than the worldwide prevalence) with 3.5% heterozygotes. The disorder is accompanied by a high rate of mortality in rural areas of Khash, given an averaged observed rate of approximately three deaths per each family with FXIII deficiency, mostly due to late-diagnosis and/or misdiagnosis, and fetal consequences of both umbilical cord and central nervous system bleeding. Almost all patients with FXIII deficiency in the southeast Iran have a unique mutation in F13A gene (Trp187Arg), which leads to a severe FXIII deficiency. This mutation is used for pre-marriage and prenatal diagnosis, as well as for carrier detection and diagnostic confirmation. Fibrogammin P has been used worldwide for about one decade, along with different therapeutic regimens for prophylaxis treatment, major and minor surgeries, and successful delivery. Due to the rapid increase in the number of patients identified to have congenital FXIII deficiency, and the high rate of related morbidity and mortality, a comprehensive regional preventive program is necessary to prevent further expansion of this condition and decrease the burden on the health care system. The area of Khash city provides novel insights into severe FXIII deficiency due to its high prevalence in this region. This report also provides a review of FXIII deficiency, its diagnosis, prevalence, molecular basis, clinical manifestations, management, and treatment, with a particular focus on Iran, representing a hotspot for this disorder