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Abstract Inherited factor VII (FVII) deficiency is a rare disorder characterized by a bleeding phenotype varying from mild to severe. To date, more than 200 mutations have been described along the F7 gene encoding for FVII. The aim of this study was the identification of genetic defects underlying FVII deficiency in 10 patients belonging to eight unrelated families of the North provinces from Tunisia. Mutation detection was performed by sequencing the whole F7 gene coding region, exon-intron boundaries and about 400 bp of the promoter region. We identified 5 mutations in five unrelated families; the novel p.F328Y mutation and the reported mutations: p.R304Q, p.M298I, IVS1aG > A and p.G-39G. For the remaining 5 patients we didn’t identified any mutations using PCR/Sequencing protocol. In conclusion, this study represents the first comprehensive molecular series of FVII deficiency affected patients in Tunisia from the North. We will try in the future to continue the molecular study for Tunisian patients from Center and South provinces in order to have a complete idea about the FVII deficiency mutational profile in our country. Virtual slides The virtual slide(s) for this article can be found here: http://www.diagnosticpathology.diagnomx.eu/vs/1288044089753085

Introduction: Factor XI deficiency is a rare coagulation disorder with variable bleeding manifestations., Aim: To evaluate the correlation between the degree of factorXI deficiency and the clinical expression of the disease., Methods: Retrospective study, spanning 10 years from January 1, 2010 to December 31, 2019, concerning patients followed at the Hemophilia Center at Aziza Othmana Hospital in Tunis. The data were collected from the medical records. The determination of PT, APTT, fibrinogen level and coagulation factors are performed by coagulometric technique on STA® compact / ACL TOP®. FactorXI deficiency was confirmed on two different samples. Statistical analysis of the clinical-biological correlation was performed using the chi-square test. The significance level was 0.05., Results: Twenty patients were collected. The mean age of discovery was 25 years with a sex ratio (M/F) =0.33. The circumstances of discovery were incidental in 14 patients. A family history of bleeding was reported in 30% of cases. Eight patients underwent surgery, six of whom had a simple postoperative course. The APTT was prolonged and isolated in 75% of cases. The hemostasis test was normal in 5 cases. The average FactorXI level was 24%. The tendency to bleed did not seem to be correlated with FactorXI levels., Conclusion: Prospective multicenter studies including molecular study would be necessary to better elucidate this rare disorder.

Background: Von Willebrand's disease (VWD) is the most commonly inherited bleeding disorder. It is characterized by clinical, biological and molecular heterogeneity. In certain types of the disease, diagnosis can be difficult., Aim: We report the clinico-biological characteristics of VWD's patients and analyze diagnosis difficulties., Methods: 33 cases were diagnosed in the laboratoryfrom February to May, 2011. Screening hemostasis included the measuring of, Fviii: C, VWF: Ag and VWF: RCo. Blood cell count and blood group were performed in all cases., Results: Mean age at diagnosis is 13 years [10 months -43 years]. The sex ratio M/F is 0.5. The patients are classified type 3 VWD in 52% of the cases, type 2 VWD in 30 % of the cases and type 1 VWD in 18 % of the cases. The diagnosis of type 2B VWD suspected in combination of the ratio VWF:RCo / VWF: Ag <0,7 and thrombocytopenia in one case. Required tests for positive diagnosis and distinction between the primary categories of VWD are available. Specialized tests will allow a best characterization variants type 2 VWD for a better therapeutic approach.

Background: Immunophenotyping is an essential step in the diagnosis of acute myeloid leukemia. Its prognostic value remains controversial with contradictory results., Aim: To assess prognostic impact of the immunophenotyping in AML., Methods: Our study is retrospective (October, 2005 - July, 2007) concerning 56 cases of AML (AML3 excluded) of the adult from 18 to 55 years old diagnosed and treated in Tunis Aziza Othmana Hospital. The immunophenotyping was performed by flow cytometry (Beckman Coulter EPICS XL MCL®). We studied clinical and biological characteristic, immunophenotypic expressions, and parameters of the response to the treatment: complete remission (CR), overall survival (OS), relapse free survival (RFS) and relapse in a delay of 1 year and 2 years. SPSS software was used to perform the statistical analysis., Results: The median age of the patients is of 37,7±11.8 years. Sex ratio (M/F) is 1.33. Among individual antigenic expressions, only CD7 is associated to lower CR rates (p=0.044). We did not find any statistically significant association between immunophenotypic expressions and OS nor with relapse or RFS., Conclusion: The impact of immunophenotyping in AML remains controversial because of contradictory results. The research of molecular changes would be an interesting alternative in our context.