Severe Congenital Factor X Deficiency in 5-Month-Old Child

Summary

A case of severe congenital factor X deficiency is presented. The patient was a 5 month old child who had several episodes of melena since the first weeks of life. Other bleeding manifestations were subcutaneous hematomas and a massive brain hemorrhage. The prothrombin time was severely prolonged and was corrected by normal serum, aged normal plasma and by the plasma of patients with parahemophilia, congenital hypoprothrombinemia and factor VII deficiency. On the contrary adsorbed normal plasma and Mr. Stuart’s plasma failed to correct the abnormality.

The partial thromboplastin time, prothrombin consumption and the thromboplastin generation test were abnormal too. The T.G.T. was corrected by the substitution of the patient’s serum with normal serum. The factor X level was less then 0.1% of normal. All other clotting factors were within normal limits.

Both parents of the “propositus” showed slightly decreased levels of factor X in their plasmas and were considered to be heterozygotes for the defect.

• References

• 1 Ascari R, Barbieri U, Gobbi F. Deficit congenito del fattore Stuart. Min. Med 326: 2873-2878 1964;
• 2 Bachmann F, Duckert F, Fluckiger P, Hitzig W. H, Koller F. Über einen neuartigen kongenitalen Gerinnungsdefekt (Mangel an Stuart-Faktor). Thrombos. Diathes. haemorrh. (Stuttg.) 01: 87-92 1957;
• 3 Bachmann F, DucJcert F, Koller F. The Stuart-Prower factor assay and its clinical significance. Thrombos. Diathes. haemorrh. (Stuttg.) 02: 24-38 1958;
• 4 Biggs R, MacFarlane R. G. Human blood coagulation and its disorders. 3rd Edition. Davis and Co; Philadelphia: 1962
• 5 Brecher C, Cronkite E. P. Morphology and enumeration of human blood platelets. J. appl. Physiol 03: 365-377 1950;
• 6 Brody J. I, Finch S. G. Improvement of factor X deficiency during pregnancy. New Engl. J. Med 263: 996-999 1960;
• 7 Gaen J, Beaumont J. L, Bernard J. Deficit en facteur Stuart. Etude biologique. Rev. franç. Ét. clin. Biol 03: 161-163 1958;
• 8 Cartwright G. E. Diagnostic Laboratory Hematology. 3th Ed. Grune and Stratton; New York: 1963
• 9 Chevallier P, Bernard J, Bilski-Pasquier G, De Grouchy J, Samama M. Déficience congénitale et familiale en facteur Stuart. Sang 30: 525-535 1959;
• 10 Crockett C. L, Shotton D, Craddock C. G, Leavell B. S. Hypoprothrombinemia: studies of a case of the idiopathic type and the effect of serum administration. Blood 04: 1298 1949;
• 11 Denson K. W. The specific assay of Prower-Stuart factor and factor VIII. Acta haemat. (Basel.) 25: 105-120 1964;
• 12 Girolami A. Correlazione tra fibrinogeno ematico e velocità di sedimentazione nelle leucemie. Policlinico, Sez. med 93: 93-99 1965;
• 13 Girolami A, Molaro G, Lazzarin M, Scarpa R, Brunetti A. Congenital hemorrhagic condition similar but not identical to factor X deficiency. A hemorrhagic state due to an abnormal factor X?. Scand. J. Haemat 07: 91-99 1970;
• 14 Girolami A, Molaro G, Lazzarin M, Brunetti A, Scarpa R. Another patient with a congenital coagulation disorder intermediate between factor VII and factor X deficiency. Haemat. lat. (Milano). (In press.)
• 15 Girolami A, Molaro G, Lazzarin M, Scarpa R, Brunetti A. A new congenital hemorrhagic condition due to the presence of an abnormal factor X (Factor X Friuli). A study of a large kindred. Brit J. Haemat 19: 179-192 1970;
• 16 Girolami A, Scarpa R. Ellagic acid induced thromboelastographic changes in the normal individual and in several coagulopathies. Haemat. lat. (Milano.) 12: 143-154 1969;
• 17 Girolami A, Molaro G, Lazzarin M, Scarpa R. Una nuova coagulopatia emorragica congenita probabilmente dovuta alla presenza di un fattore X abnorme. Studio preliminare. Min. Med 98: 4939-4949 1969;
• 18 Gonya L. M, Krivit W. Congenital coagulation deficiency of Stuart factor activity. J. Lab. clin. Med 51: 398-403 1958;
• 19 Graham J. B, Barrow E. M, Hougie C. Stuart clotting defect. II. Genetics aspects of a new hemorrhagic state. J. clin. Invest 36: 497-503 1957;
• 20 Hardisty R. M, Mac Pherson J. G. A one stage factor VIII (antihemophilic globulin) assay and its use on venous and capillary plasma. Thrombos. Diathes. haemorrh (Stuttg.) 07: 215-220 1962;
• 21 Hicks N. D, Pitney W. R. A rapid screening test for disorders of thromboplastin generation. Brit. J. Haemat 03: 227-237 1957;
• 22 Hjort P, Rapaport S. I, Owren P. A. A simple specific one-stage prothrombin assay using Russell’s viper venom in Cephalin suspension. J. Lab. clin. Med 46: 89-97 1955;
• 23 Hörder M. H. Isoliert, kongenitaler Faktor X Mangel. Med. Klin 59: 330-333 1964;
• 24 Horowitz H. I, Wilcox W. P, Fujimoto M. M. Assay of plasma thromboplastin antecedent (PTA) with artificially depleted normal plasma. Blood 22: 35-43 1963;
• 25 Hougie G, Barrow H. M, Graham J. B. Stuart clotting defect. I. Segregation of an hereditary hemorrhagic state from the heterogeneous group heretofore called “stable factor” (SPCA, proconvertin, factor VII) deficiency. J. clin. Invest 36: 485-496 1957;
• 26 Langdell R. D, Wagner R. H, Brinkhous K. M. Effect of antihemophilic factor on one-stage clotting tests. A presumptive test for hemophilia and a simple one-stage antihemophilic factor assay procedure. J. Lab. clin. Med 41: 637-647 1953;
• 27 Lechler E, Webster W. P, Roberts H. R, Penick G. D. The inheritance of Stuart disease: investigation of a family with factor X deficiency. Amer. J. med. Sci 249: 291-294 1965;
• 28 Lee R. I, White P. D. A clinical study of the coagulation of blood. Amer. J. Med 145: 405-507 1953;
• 29 Lewis J. H, Ferguson J. H, Fresh J. W, Zucker M. B. Primary hemorrhagic diseases. J. Lab. clin. Med 49: 211-232 1957;
• 30 Miale J. B. Laboratory Medicine. Hematology. C.V. Mosby Co; St. Louis: 1967
• 31 Oehme J, Schwick G, Schultze H. E. Familiärer Faktor X-Mangel. Klin. Wschr 36: 521-524 1958;
• 32 Owren P. A, Aas K. The control of dicoumarol therapy and the quantitative determination of prothrombin and proconvertin. Scand. J. clin. Lab. Invest 03: 201-208 1951;
• 33 Pasero G, Bonechi I. Diatesi emorragica da deficit di fattore X. Rif. Med 82: 200 1968;
• 34 Quick A. J. The physiology and pathology of hemostasis. Lea and Febiger; Philadelphia: 1951
• 35 Rabiner F, Kretchmer N. The Stuart-Prower factor: utilization of clotting factors obtained by starch-block electrophoresis for genetic evaluation. Brit. J. Haemat 07: 99-109 1961;
• 36 Ratnoff O. D. Estimation of Hageman factor in plasma or plasma fractions. In: Tocantins L. M , Kasal L. M. (Editors) Blood Coagulation Hemorrhage and Thrombosis. Grune and Stratton; New York: 1964
• 37 Roos J, van Arkel G, Verloop M. G, Jordan F. L. J. A “new” family with Stuart-Prower deficiency. Thrombos. Diathes. haemorrh. (Stuttg.) 03: 59-76 1959;
• 38 Telfer T. P, Denson K. W, Wright D. R. A new coagulation defect. Brit. J. Haemat 02: 308-316 1956;
• 39 Ware A. G, Stragnell P. An improved one-stage prothrombin method. Amer. J. clin. Path 22: 791-797 1957;
• 40 Ware A. G, Seegers W. H. Two-stage procedure for the quantitative determination of prothrombin concentration. Amer. J. clin. Path 19: 471-482 1949;