Hæmophilia Bm: A New Type of Factor-Ix Deficiency

Hougie, Cecil; Twomey, J.J.

doi:10.1016/s0140-6736(67)92179-4

Cited by 114 publications

(43 citation statements)

References 13 publications

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“…If so, it would mean that a molecular defect had disappeared with time in 2 of the patients. ~a e m o~h i l i a BM is characterized by a prolonged prothrombin time with bovine thromboplastin (6,8). BM variants were not detected in either the present study or in some earlier studies (17).…”

Section: Ljung and Holmbergcontrasting

confidence: 67%

Genetic Variants of Haemophilia B Detected by Immunoradiometric Assay: Implications for Prenatal Diagnosis

Ljung

Holmberg

1982

Pediatr Res

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Section: Ljung and Holmbergcontrasting

confidence: 67%

Genetic Variants of Haemophilia B Detected by Immunoradiometric Assay: Implications for Prenatal Diagnosis

Ljung

Holmberg

1982

Pediatr Res

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“…Other abnormal Factor IX molecules almost certainly exist as initially postulated by Fantl et al (49), Roberts et al (12), and Hougie and Twomey (50). The latter authors described a hemophilia BM kindred which was shown to be CRM+ by Brown et al (16) and which has recently been purified and characterized by Osterud et al (51).…”

Section: Methodsmentioning

confidence: 82%

Purification and characterization of an abnormal factor IX (Christmas factor) molecule. Factor IX Chapel Hill.

Chung¹,

Madar²,

Goldsmith³

et al. 1978

J. Clin. Invest.

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“…Center well contains rabbit antifactor IX serum (a) and plasma samples were concentrated by lyophilization and reconstitution with water to one-fifth starting volume. Plasma sample wells are numbered as follows: 1, 3, 5, and 7 are normal; 2 and 4 are hemophilia B (patients 12 and 1, respectively, from 28 patients on warfarin therapy in the order of their factor IX clotting activity. The mean prolongation of the prothrombin time was 23 s or 1.9 times normal; the thrombotest prolongation was strongly correlated (r = 0.76).…”

Section: Resultsmentioning

confidence: 99%

“…For the 16 pedigrees with < 17% antigen, 12 were negative in the neutralization test with a lower concentration of rabbit anti-factor IX (1:200, final dilution) and 4 were weakly positive. When the neutraliza-906 A. R. Thompson The thrombotest, employing commercial ox-brain thromboplastin, was performed on patients from 28 pedigrees to determine if any represented the Bm variant described by Hougie (28). B. is probably associated with high levels of a defective factor IX antigen, and is characterized by prolonged ox brain, but not human brain, extrinsic clotting.…”

Section: Resultsmentioning

confidence: 99%

Factor IX antigen by radioimmunoassay. Abnormal factor IX protein in patients on warfarin therapy and with hemophilia B.

Thompson¹

1977

J. Clin. Invest.

100

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A B S T R A C T Factor IX, isolated from normal human plasma, was homogenous by polyacrylamide gel electrophoresis in urea and sodium dodecyl sulfate. On the latter, it migrated as a single polypeptide chain with or without reducing agents and had an apparent mol wt of 62,000. After iodination by chloramine-T, a single peak of 1251 was found on gels. Immunoelectrophoresis in agarose with rabbit antifactor IX sera gave a single arc against both isolated and partially purified factor IX preparations. The rabbit antibody was specific as it failed to inhibit the activities of prothrombin or factors VII or X in normal plasma. At an additional 20-fold dilution, factor IX activity was inhibited 50%.In a double-antibody radioimmunoassay, excess rabbit anti-human factor IX precipitated 90-95% of the 125I-human factor IX. Control without specific antibody gave 6-8%. Dilutions of a pool of normal human plasma paralleled dilutions of the isolated preparation and were used for the standard curve. Of 39 plasma samples from normal donors, the mean factor IX antigen level was 93% of that of a separate normal pool.The radioimmunoassay detected the abnormal factor IX produced in patients on warfarin therapy. After Al(OH)3 adsorption of warfarin treated patient's plasma, factor IX antigen, but not activity, was present in the supemate. Samples from 28 patients on warfarin gave a mean factor IX clotting activity of 27% with a mean antigen of 69%. The antigen level from the warfarin group was significantly lower than the antigen level of the normal group (P < 0.001).The factor IX antigen level was then assessed in 36 patients from 29 pedigrees with hemophilia B. The median antigen level was 17% of normal. The distribution of the antigen level was wide with two patients

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Hæmophilia Bm: A New Type of Factor-Ix Deficiency

Cited by 114 publications

References 13 publications

Genetic Variants of Haemophilia B Detected by Immunoradiometric Assay: Implications for Prenatal Diagnosis

Genetic Variants of Haemophilia B Detected by Immunoradiometric Assay: Implications for Prenatal Diagnosis

Purification and characterization of an abnormal factor IX (Christmas factor) molecule. Factor IX Chapel Hill.

Factor IX antigen by radioimmunoassay. Abnormal factor IX protein in patients on warfarin therapy and with hemophilia B.

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