Summary
A case of Hemophilia B+ or BM is presented. The propositus is a 63 year old male who has had a moderately severe bleeding tendency since childhood.
The coagulation work-up showed a prolonged partial thromboplastin time, a prolonged thrombotest, a prolonged prothrombin time using pig or ox brain thromboplastin and a slightly prolonged prothrombin time using rabbit brain or human brain thromboplastin. Prothrombin consumption was defective and a serum defect was present in the thromboplastin generation test.
Factor IX was low (<1% of normal) whereas all other clotting factors were within normal limits.
The presence of an inhibitor in the patient's plasma was demonstrated by mixing experiments and Thrombotest dilution curves. The antibody neutralization test showed the presence of 30% factor IX protein in the patient's plasma.
Several relatives of our propositus, including a daughter, had a normal coagulation pattern.
Zusammenfassung
Es wird von einem Fall von Hämophilie B+ oder BM berichtet. Es handelt sich um einen 63jährigen Mann, der seit seiner Kindheit eine mittelschwere Blutertendenz aufweist.
Die Koagulationsuntersuchung zeigte eine verlängerte Partial-Thromboplastindauer, einen verlängerten Thrombotest, eine verlängerte Prothrombindauer bei Verwendung von Gehirn-Thromboplastin von Schwein oder vom Ochsen und eine leicht verlängerte Prothrombindauer bei Verwendung von Gehirn-Thromboplastin vom Kaninchen oder vom Menschen. Der Prothrombinverbrauch war mangelhaft; im Thromboplastin-Generationstest zeigte sich ein defektes Serum.
Der Faktor IX war niedrig (>1% vom Normalen), während alle übrigen Koagulationsfaktoren sich innerhalb der normalen Grenzen bewegten.
Das Vorhandensein eines Inhibitors im Plasma des Patienten wurde an Hand von Experimenten und Thrombotest-Dilutionskurven gezeigt. Der Antikörper-Neutralisationstest wies das Vorhandensein von 30% Faktor IX-Protein im Plasma des Patientenn nach.
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Girolami, A., Cella, G. & Bareggi, G. Hemophilia B+ or BM. first case reported in Italy. Blut 26, 268–276 (1973). https://doi.org/10.1007/BF01631791
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DOI: https://doi.org/10.1007/BF01631791