Studies on the inheritance and nature of hemophilia BM

Twomey, J.J.; Corless, John K.; Thornton, Larry W.; Hougie, Cecil

doi:10.1016/0002-9343(69)90039-4

Cited by 14 publications

(4 citation statements)

References 19 publications

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“…It became generally accepted that in certain cases the prolongation of prothrombin time, as measured with ox brain thromboplastin, was due to the effect of an inhibitor. These cases were regarded as a variant of haemophilia B (BM variant) (Hougie and Twomey 1967;Denson et al 1968;Gray et al 1968;Twomey et al 1969). It has been confirmed (Denson et al 1968;Twomey et al 1969) that the inhibitor is actually an inactive form of factor IX.…”

Section: Discussionmentioning

confidence: 99%

“…These cases were regarded as a variant of haemophilia B (BM variant) (Hougie and Twomey 1967;Denson et al 1968;Gray et al 1968;Twomey et al 1969). It has been confirmed (Denson et al 1968;Twomey et al 1969) that the inhibitor is actually an inactive form of factor IX. BM variants were also found in other laboratories without the demonstration of an inhibitor (Minami et al 1969;Larrieu, 1971, Meyer et al 1972).…”

Section: Discussionmentioning

confidence: 99%

“…If the inhibitor were an anomalous form of factor IX protein, (Denson et al 1968;Twomey et al 1969) it should have been detectable in the plasma of all BM cases by immunological methods, i. e. with a specific antibody for factor IX. However, the relationship between BM variants and the presence of abnormal factor IX protein is controversial.…”

Section: Discussionmentioning

confidence: 99%

“…A new type of haemophilia called haemophilia BM, which is characterized by prolonged prothrombin time with ox brain thromboplastin has been described by Hougie and Twomey ( 1967). It has been suggested that the prolongation of prothrombin time is clue to an anomalous variant of factor IX which inhibits ox brain thromboplastin (Hougie and Twomey 1967;Denson et al 1968;Twomey et al 1969).…”

Section: Introductionmentioning

confidence: 99%

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Studies on the Prolonged Prothrombin Time in Haemophilia BM

Elödi¹

1973

Thromb Haemost

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SummaryProlonged prothrombin time was measured in four haemophilia B patients with the aid of bovine or rat thromboplastins, whereas normal values were obtained when human or rabbit thromboplastin was used. The anomaly can be ascribed to the decreased level of factor VII. Four carrier relatives exhibited normal prothrombin time independent of the source of thromboplastin. The prolonged prothrombin time appears to be a non-hereditary phenomenon and it may be attributed to a species- specific interaction between thromboplastin of diverse sources and human factor VII, rather than to anomalous factor IX.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Studies on the Prolonged Prothrombin Time in Haemophilia BM

Elödi¹

1973

Thromb Haemost

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Prothrombin times on deficient plasma reconstituted with factors IX and X

Roberts

Monroe

1994

American J Hematol

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REFERENCES1. Lefkowitz JB, Monroe DM, Kasper CK, Roberts HR: Comparison of the behaviour of normal factor 1X and the factor 1X Bm variant Hils in the prothrombin time test using tissue factor, from bovine, human and rabbit sources. Am J Hematol 43:177-182, 1993. 2. Girolami A, Fabris F, Dal Bo Zanon R, Ghiotto G, Bum1 A: Factor VII Padua: A congenital coagulation disorder due to abnormal factor VI1 with a peculiar activation pattern. J Lab Clin Med 91:387-395, 1978. (abnormal factor IX coagulation disorder). Haematology 59:91-108, 1974. 5. Elodi S: Studies of the prolonged prothrombin time in hemophilia BM. Thromb Diath Haemorrh 29:247-252, 1973. 6. Spitzer SG, Wan-Cramer BJ, Kasper CK, Bajani SP: Replacement of isoleucine 397 by threonina in the clotting proteinase factor IXa (Los Angeles and Long Beach variants) affects macromolecula catalysis but not L-tosylarginine methyl ester hydrolysis. Biochem J 265:219-225, 1990. 7. Usharani P, Wan-Cramer J, Kasper CK, Bajay SP: Characterization of three abnormal factor IX variants (Bm Lake Elsinore, Long Becah and Los Angeles) of hemophilia. Br J Clin Invest 75:7&83, 1985. 8. Girolami A, Dal Bo Zanon R, Saltarin P, Quaino V, Altimier G, Ripa T, Marchetti A, Stocco D: Incidence, significance and subtypes of hemophilia Bm in a large population of hemophilia B patients. Blut 44:41-49, 1982.9. Girolami A, Dal Bo Zanon R, De Marco I, Cappellato G; Hemophilia B with associated factor VII deficiency: A distinct variant for hemophilia B with low factor VII activity and normal factor VII antigen. Professor Girolami and colleagues, Gray et al. in 1968 observed that a hemophilia B patient had a 4-sec prolongation using rabbit brain as the tissue source and a 226-sec prolongation using bovine brain [2]. In addition to their 1967 paper [3], in 1969 Twomey et al.[4] observed a 0-4 sec prolongation using human brain as the thromboplastin source and a 2 5 4 7 -sec prolongation using bovine brain, with intermediate prolongations when the thromboplastin source was dog, pig, sheep, or rat. We were interested in understanding the difference between the extreme prolongation seen with bovine brain and the mild to nonexistent prolongation when rabbit and human brain were used as the source of thromboplastin for the prothrombin time (PT). Our recent studies as well as those of Professor Girolami and colleagues are, of course, predated by the pioneering work of many other researchers. To cite just one example, Warner et al. in 1939 showed that thromboplastins from a wide variety of species have very different abilities to promote thrombin generation [5].We did not claim that Spitzer et al. [6] were the first to correlate ox brain PT and antigen levels. We cited that study because it gave an interesting example of how two hemophilia Bm patients initially classified as having different mutations because of the differences in their ox brain PT values were subsequently shown to have identical defects. That study showed dramatically how important it is to quantitate antigen levels of both factor 1X...

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Die Hämostase

Kleihauer¹

1978

Hämatologie

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Studies on the inheritance and nature of hemophilia BM

Cited by 14 publications

References 19 publications

Studies on the Prolonged Prothrombin Time in Haemophilia BM

Studies on the Prolonged Prothrombin Time in Haemophilia BM

Prothrombin times on deficient plasma reconstituted with factors IX and X

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