haematologica | 2008; 93(8) | 1275 | erozygous factor V Leiden. Haemophilia 2001;7:511-4. 11. Castoldi E, Govers-Riemslag JWP, Pinotti M, Biondini D, Tans G, Berrettini M, et al. Coinheritance of Factor V (FV) Leiden enhances thrombin formation and is associated with a mild bleeding phenotype in patients homozygous for the FVII 9726+5G>A (FVII Lazio) mutation. Blood 2003;102: 4014-20. 12. Coope...

conclusions: we determined a significant higher frequency of protein s deficiency in patients with rpl compared with controls. but the frequency of protein c deficiency and the frequency of two common thrombophilic mutations (factor v leiden and prothrombin g20210a), were not significantly different between patients with recurrent miscarriage and healthy women. results: the mean functional acti...

cerebral vein thrombosis (cvt) is an infrequent condition with a large variety of causes that can lead to serious disabilities. however, in 20% to 35% of cases, no cause is found. in this study we evaluated the hereditary (p & c proteins, antithrombin, mutation of prothrombin g20210a and factor v leiden), other risk factors (hyperhomocycteinemia, factor viii, acl-ab, apl-ab, and ocp) and clinic...

Recurrent pregnancy loss is usually defined as the loss of two or more consecutive pregnancies before 20 weeks of gestation, which occurs in approximately 5% of reproductive-aged women. It has been suggested that women with thrombophilia have an increased risk of pregnancy loss and other adverse pregnancy outcomes. Thrombophilia is an important predisposition to blood clot formation and is cons...

Kebriaei P, et al. Low-dose azacitidine after allogeneic stem cell trans-plantation for acute leukemia. relapse after allo-geneic bone marrow transplantation for haematological malignancy. Early prediction of extramedullary relapse of leukemia following allogeneic stem cell transplantation using the WT1 transcript assay. Repeated relapses of acute myelogenous leukemia in the isolated extramedul...

INTRODUCTION There are very few data assessing a family history of venous thromboembolism (VTE) as a risk factor for VTE. This question is nonetheless of interest as inherited risk factors are involved but at least partly unknown. METHODS The E.D.I.TH. study is a prospective hospital-based case-control study. The family history was assessed by using a standard questionnaire, considering the t...

A 19 year old pregnant woman presented to the coronary care unit with an acute anterior myocardial infarction. She was treated with primary percutaneous transluminal coronary angioplasty of the proximal left anterior descending coronary artery. Ultrasound examination showed patent foramen ovale (PFO) and atrial septal aneurysm. The patient was a heterozygote carrier of factor V Leiden. Despite ...

BACKGROUND Thrombophilia-related mutations, such as coagulation factor V Leiden and factor II (G20210A), have been associated with female infertility due to spontaneous abortions during pregnancy. The possible role of mutations of these two factors in male infertility has not been studied to date. MATERIALS AND METHODS A total of 208 unrelated Greek men were investigated, including 108 infert...

AIMS To determine to what extent the Arg506 to Gln point mutation in the factor V gene and further genetic factors of thrombophilia affect the risk of porencephaly in neonates and infants. METHODS The Arg506 to Gln mutation, factor V, protein C, protein S, antithrombin, antiphospholipid antibodies and lipoprotein (a) (Lp(a)) were retrospectively measured in neonates and children with porencep...