A haemophilia A and B molecular genetic diagnostic programme in Hungary: a highly informative and cost-effective strategy

• Published in: Haemophilia : the official journal of the World Federation of Hemophilia Vol. 7; no. 3; pp. 306 - 312
• Main Authors: Klein, I., Andrikovics, H., Bors, A., Nemes, L., Tordai, A., Váradi, A.
• Format: Journal Article
• Language: English
• Published: Oxford UK Blackwell Science Ltd 01.05.2001
• Subjects: carrier diagnosis; Chromosome Inversion; Cost-Benefit Analysis; DNA Mutational Analysis; DNA polymorphism; Family Health; Female; gene inversion; Genetic Carrier Screening; Genetic Testing - economics; Genetic Testing - methods; Genetic Testing - organization & administration; haemophilia A; haemophilia B; Hemophilia A - diagnosis; Hemophilia A - economics; Hemophilia A - genetics; Hemophilia B - diagnosis; Hemophilia B - economics; Hemophilia B - genetics; Humans; Hungary - epidemiology; Male; Pedigree; Polymorphism, Genetic; prenatal diagnosis; Prenatal Diagnosis - economics

Our aim was to set up a protocol in order to provide carrier and prenatal diagnosis to Hungarian haemophilia A (HA) and B (HB) patients and their relatives. For HA, a combination of direct mutation detection and some indirect marker analyses were used: the detection of the inversion mutation and ana...