Hemophilia A is a hereditary hemorrhagic disorder caused by a variety of genetic abnormalities in the factor VIII gene located in the long arm of X chromosome. About a half population of the hamophilia A patients with severe bleeding tendency have recently been shown to have inversions of large DNA segments in the factor VIII gene that disrupt the gene structure. By modifying the Long-PCR method using LA Taq^TM as DNA polymerase and the reaction mixture containing 7.5% DMSO and 0.1 mM 7-deaza-dGTP, and applying 20 cycles of heat denaturation at 96°C for 15 seconds and annealing/extension at 63°C for 15 minutes, we were able to show inversions of the factor VIII gene in 17 out of 39 severe Japanese hemophilia A patients (43.6%). Our modified Long-PCR method seems to detect the inversion mutation of the factor VIII gene associated with severe hamophilia A more rapidly and with a less amount of sample than the conventional Southern blotting method.

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The criterion for the diagnosis of the disseminated intravascular coagulation syndrome (DIC) established by the Ministry of Health and Welfare of Japan was subjected for evaluation in patients with DIC associated with hematopoietic tumors (375) and non-hematopoietic tumors (551). Bleeding was frequent in the DIC group (>60%) and organ failures were frequently observed in the group of patients with non-hematopoietic tumors. Regardless of hematopoitic or non-hematopoitic tumors, differences of the prothrombin time (PT) ratio and those of plasma fibrinogen were found to be highly significant between the DIC and non-DIC patient groups (p<0,001). The difference of the fibrinogen/fibrin degradation products (FDP) between the two groups was only slightly significant, however (p<0,05), FDP appeared to be the highest but the plasma fibrinogen was the lowest in terms of the sensitivity for the diagnosis of DIC, whereas the plasma fibrinogen was the highest and FDP was the lowest in terms of its specificity. The receiver operating characteristic analysis showed that FDP, the PT ratio, platelet counts and plasma fibrinogen were useful for the diagnosis of DIC in this order. To elevate the cut-off value of FDP and to reduce that of the PT ratio thus seem to be more efficient for the diagnosis of DIC.

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