Combined coagulation factor VIII and factor IX deficiency (CDF8F9) in a patient from Lithuania
Pezeshkpoor, B.; Biswas, A.; Goldmann, G.; Horneff, S.; Gimbutyte, M.; Malciute, L.; Jurgutis, R.; Oldenburg, J.; Ivaškevičius, V. · Zeitschrift für Orthopädie und Unfallchirurgie · 2016 · Heft S 02 · S. S29-S33
Bibliografische Angaben
Zusammenfassung
SummaryHaemophilia A (FVIII deficiency) and haemophilia B (FIX deficiency) are X-linked inherited bleeding disorders. It is a very rare event to identify both haemophilias in the same patient. So far, only two families with such combination are reported in the literature worldwide supported by genetic background. Patients and methods: Evaluation of clinical data, determination of FVIII and FIX levels and genetic analysis of F8 and F9 genes by direct sequencing. Results: We report on a patient having severe haemophilia B (FIX:C T, p.R75X), whereas F8 gene analysis revealed a point mutation in exon 4 (c.545A>C, p.…
