Molecular analysis of FVIII gene in severe HA patients of Costa Rica
Jiménez-Cruz, G.; Mendez, M.; Chaverri, P.; Alvarado, P.; Schröder, W.; Wulff, K.; Sandoval, M.; Herrmann, F.-H.; Pavlova, A.; Oldenburg, J.; Salazar-Sánchez, L. · Zeitschrift für Orthopädie und Unfallchirurgie · 2010 · Heft S 01 · S. S150-S152
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Zusammenfassung
SummaryHaemophilia A (HA) is X-chromosome linked bleeding disorders caused by deficiency of the coagulation factor VIII (FVIII). It is caused by FVIII gene intron 22 inversion (Inv22) in approximately 45% and by intron 1 inversion (Inv1) in 5% of the patients. Both inversions occur as a result of intrachromosomal recombination between homologous regions, in intron 1 or 22 and their extragenic copy located telomeric to the FVIII gene. The aim of this study was to analyze the presence of these mutations in 25 HA Costa Rican families. Patients, methods: We studied 34 HA patients and 110 unrelated obligate members a…
