Symptomatic combined homozygous factor XII deficiency and heterozygous factor V Leiden. J Thromb Thrombolysis 2000; 9: 271-5.Girolami A, Simioni P, Scarano L, Girolami B, Zerbinati P. Symptomatic combined homozygous FXII deficiency and haterozygous factor V Leiden. J Thromb Thrombolysis 2000;9:...
Compound heterozygosity for factor V Leiden and prothrombin G20210A mutations in a child with Budd-Chiari syndrome Presents a case study of a child with Budd-Chiari syndrome (BCS). Description of the BCS; Causes of the BCS; Association between a nucleotide change in the... T Sipahi,F Duru...
73 While in normal and heterozygous women FVII plasma levels rise during pregnancy, no such increase is observed in women with a severe homozygous deficiency. As a consequence, symptomatic women with FVII deficiency may continue to bleed during pregnancy and postpartum. In a large study (234 ...
The suggested role of FHR-1 in inflammation is corroborated by studies in ACVD patient cohorts, which revealed that homozygous deficiency ofCFHR1was less frequent in ACVD patients than in control cohorts. Similarly, the frequency of homozygous deficiency ofCFHR1was lower in AMD patients (0.8–1.2%...
We determined the factor V Leiden genotype in 471 consecutive patients aged less than 70 years with a first objectively confirmed deep-vein thrombosis and in 474 healthy controls. We found 85 heterozygous and seven homozygous individuals among the cases with thrombosis and 14 heterozygous individuals ...
Another variant, called the R2 allele (H1299R), appears to confer a modest additional increased thrombotic risk when present in the compound heterozygous state with factor V Lei- den.20 It has no clinically significant effect by itself, but in the homozygous state, it appears to increase APC...
factor V LeidenBudd-Chiari syndromeComment on Br J Haematol. 1998 Sep;102(4):929-31.doi:10.1046/j.1365-2141.1999.01487.xGurjeewan GarewalReena DasYogesh ChawlaR K DhimanBlackwell Science LtdBritish Journal of HaematologyGarewal G,,Das R,Chawla Y.Budd-Chiari syndrome associated with homozygous ...
Kyung A. Kang
Standen GR, Morse C et al.DVT following oral contraceptive therapy in association with homozygous factor V Leiden. Aslam S. Clinical and Laboratory Haematology . 1995Aslam S.Standen GR, Morse C et al.DVT following oral contraceptive therapy in association with homozygous factor V Leiden.Clinical ...
It appears to confer a modestadditional thrombotic risk when present in a compound heterozygous state withthe factor V Leiden.56 Compared with normal individuals, thisvariant has 73% of the APC cofactor activity.57 In the homozygousstate, factor V R2 allele appears to cause a mild APCresistance...