Mild deficiency of folic acid is common in the later months of normal pregnancy, due apparently to increased demand and in some cases to impaired absorption1. Megaloblastic anaemia from this cause is not rare, but more frequently a lesser degree of deficiency complicates lack of iron, and in such cases the anaemia responds only to the combined administration of both substances. Deficiency of folic acid has been found in patients with accidental haemorrhage and may be found in anaemia in the puerperium.
High incidence of thromboembolism in observed in families with antithrombin III deficiency, despite the rather moderate defect (25 to 50 per cent) observed in the affected subjects, considered as heterozygous for the disease. The mechanism by which such a mild deficiency may promote thrombosis still remains unknown.A new family with antirhrombin III deficiency is reported, including three affected generations. Three young male adults of a same sibship died from massive pulmonary embolism aged from 22 to 28 years. In four living members of the family, three of which had antecedents of thrombophlebitis, antithrombin III level was close to 50 per cent by all assay methods used. Electro-phoretic and immunochemical studies failed to demonstrate any qualitative defect of the antithrombin III molecule.In these patients the only abnormalities of hemostasis lied in the early stage of the hemostatic pathway. In vitro, thrombin formation occured very rapidly after initiation of coagulation, as demonstrated by the kinetics of thrombin generation and factors V and VIII activation. In vivo, factors V and VIII were activated during bleeding much more rapidly than in controls and this activation was not suppressed by low doses of heparin (10 u./kg) as in the controls.These findings indicate that antithrombin III acts chiefly in the regulation balance of the early stages of hemostasis and thrombosis.
In a group of 60 patients entering our hospital for completed stroke, within 72 hours after onset of symptoms, treatment with Kabi 2165 2x 2500 anti-Xa U s.c. was compared to placebo 2x s.c. in a double blind trial to test the assumption that Kabi 2165 could prevent DVT, without causing cerebral bleeding in the ischaemic area. The diagnosis of stroke was made on clinical grounds. A.CT-scan of the head was performed before entering the trial to exclude cerebral bleeding or tumor. Follow-up during a trial period of 14 days included a Fibrinogen scan - if positive followed by flebografy. After the trial period or when clinical deterioration occurred a CT-scan of the head was repeated. Before and during the trial period haematologic and coagulation data were obtained and will be reported. Obduction was obtained whenever possible.The patient groups were comparable, except for a slight preponderance of disturbed consciousness and atrial fibrillation in the Kabi 2165-treated group. This difference did not reach statistic significance. In the Kabi 2165 group there were 6 cases of DVT compared to 15 in the placebo group (p=0,05). In the Kabi 2165-treated group there were slightly more cases of cerebral bleeding and death during trial, respectively 4 versus 2 and 9 versus 4 (both NS). Cerebral bleeding occurred only in patients with a bloodpressure above 150/90 mmHg on entering.Although the patient group is still small, we like to conclude that in normotensive stroke patients Kabi 2165 2x 2500 anti-Xa U s.c. per 24 hours, is a safe method of DVT profylaxis.
Abstract
Three unrelated Japanese patients with chronic nonspherocytic hemolytic anemia wer found to have marked deficiency of red blood cell (RBC) reduced glutathoine (GSH) (4.4%, 13.1%, and 6.9% of normal, respectively). A panel of RBC enzyme assays showed that one patient had decreased glutathione synthetase activity and the other two were moderately deficient in gamma-glutamylcystine synthetase. Some family members of each patient showed mild deficiency of the respective enzymes. RBCs of these patients also showed a decreased level of glutathione-S-transferase as in previously described GSH-deficient cases. Hemolytic anemia was their only manifestation, and neither 5- oxoprolinemia nor 5-oxoprolinuria, which are usually associated with to generalized type of glutathione synthetase deficiency, was noted in our patients.
Vitamin B12 and folate deficiencies are common and have a big impact on sufferers' lives. Margaret Perry provides an overview of the causes of, and treatments for, these conditions Vitamin B12 and folate are essential for a number of physiological functions in the body. Deficiency of vitamin B12 is relatively common and prevalence increases with age. Folate deficiency is less common, but still clinically significant. Diagnosis can often be problematic as many of the symptoms patients present with are shared with other conditions and can easily be attributed to other causes. Mild deficiency of B12 may cause no symptoms until it has progressed to be more severe. Interpretation of B12 levels is extremely difficult as there is no clinically normal level. Diagnosis can be easily overlooked, but correct treatment has the ability to transform sufferer's lives in terms of improving energy levels and preventing further complications.
Hereditary Antithrombin III Deficiency. Evidence of Increased Thrombin Formation in the Early Stage of Hemostasis