Masato Nishino

RFLPs of factor IX gene in Japanese haemophilia B families and gene deletion in two high-responder-inhibitor patients

SummaryThe factor IX genes in four Japanese families with haemophilia B were analysed for the restriction fragment length polymorphisms (RFLPs) of TaqI, XmnI and DdeI, using subcloned intragenic DNA fragments as probes (probes VIII and XIII). The factor IX genes in 12 patients with haemophilia B and three high-responder-inhibitor cases showed no size difference using a cDNA probe (cVII) when restricted by TaqI, EcoRI and HindIII. Complete gene deletions were observed in two other high-responder-inhibitor cases.

Carrier detection in Japanese haemophilia a families using factor VIII gene probe (F8A) and the gene-linked ST 14-1 probe

SummaryCarriers of haemophilia A were detected in 20 Japanese families with using the factor VIII gene probe (F8A) and the gene-linked ST 14-1 probe. Polymorphism by the use of the BclI and F8A probe detected the smaller allele (0.9 kb) in 86% and the larger allele (1.2 kb) in 14% of the 65 normal X chromosomes. The frequency of BclI polymorphism was 30% in 30 normal fameles. In six out of 20 haemophilia A families, the haemophilia gene was identified by BclI allele polymorphism. The use of TaqI and the ST 14-1 probe detected 11 carriers in 20 haemophilia A families. In 14 families (70%), either the BclI polymorphism in the factor VIII locus or TaqI polymorphisms in the ST 14 locus was useful for carrier detection.

Patterns of Factor-VIII Related Antigen on Crossed Immunoelectrophoresis and Large Pore Polyacrylamide Gel-Crossed Immunoelectrophoresis in von Wilkbrand's Disease

Plasma samples from patients with various types of von Willebrands disease were subdivided into six patterns according to the electrophoretic mobility and shape of VIIIR: Ag on crossed immunoelectrophoresis (CIE): pattern 1 no precipitation arc, pattern 2 normal mobility with low arc, pattern 3 intermediate mobility with low arc, pattern 4 faster anodal mobility with low arc, pattern 5 normal mobility with normal arc height, pattern 6 faster anodal mobility with normal arc height. Of 62 patients, 14 had pattern 1, 6 pattern 2, 16 pattern 3, 12 pattern 4, 9 pattern 5, and 5 pattern 6.

Persistent Endothelial Damage after Intravenous Immunoglobulin Therapy in Kawasaki Disease

Background: Kawasaki disease (KD) is an acute systemic vasculitis of unknown etiology. Although endothelial cell damage associated with vasculitis might lead to the hypercoagulability that is involved in coronary artery disease, the changes in coagulation after intravenous immunoglobulin therapy (IVIG) have not been well investigated in KD. The aims of this study were to address the changes in coagulation before and after IVIG in KD, and to further elucidate the coagulation-inflammation axis, with special attention to endothelial damage. Methods: We retrospectively collected the laboratory data before and after IVIG in 26 pediatric KD patients treated at the Nara Prefecture Western Medical Center between May 2010 and April 2012. Prothrombin time (PT), activated partial thromboplastin time (APTT) and levels of fibrin/fibrinogen degradation products (FDP) and D-dimer were assessed as coagulation markers. Fibrinogen, ferritin, serum amyloid A, procalcitonin and urine F2 microglobulin were assessed as inflammation markers. Thrombomodulin, antithrombin, factor VIII activity (FVIII:C), and von Willebrand factor antigen (VWF:Ag) were used to assess endothelial damage. Results: Prolonged PT and APTT before IVIG were significantly shortened after IVIG, and elevated levels of FDP and D-dimer were significantly decreased. Elevated levels of inflammation markers had decreased significantly after IVIG, but levels of FVIII:C and VWF:Ag remained high, even after IVIG. Conclusions: Ameliorated inflammation by IVIG might improve the hypercoagulable state. Nevertheless, our results suggest that endothelial damage might be prolonged in IVIG-treated patients. Control of endothelial damage in KD is critical. i 2014 S. Karger AG, Basel

von Willebrand Disease: Diagnosis and Treatment

von Willebrand disease (VWD) is caused by quantitative or qualitative defects of von Willebrand factor (VWF), associated with mucocutaneous bleeding symptoms. VWD is classified into three major groups and four subcategories. The classification is intended to be simple, to rely on widely available laboratory tests, and to correlate with important clinical characteristics. It is meant to facilitate the diagnosis, treatment, and counseling of patients with VWD. The International Society on Thrombosis and Haemostasis/Scientific and Standardization Committee (ISTH/SSC) reviewed the classification and published update information on the diagnosis and treatment of VWD in 2006 based on the most recent pathophysiology data for VWF. Notably, Vicenza type has been classified into type 1 from type 2M. In epidemiology, there may be small differences of frequency in VWD subcategories (type 2) between Europe and lapan. For treatment, factor VIII/VWF concentrate is commonly employed in Japan, although DDAVP has been the first choice for VWD in Europe.