Biotechnology & Biotechnological Equipment 25 (4), 2566 - 2571 (2011)http://dx.doi.org/10.5504/bbeq.2011.0104
MEDICAL BIOTECHNOLOGY
READY, STEADY, GO – THE CURRENT STATE OF CARRIERSHIP STATUS DETERMINATION AND PRENATAL DIAGNOSIS OF HAEMOPHILIA A IN BULGARIA
Venceslav Atanassov, Radoslava Vazharova University Hospital of Obstetrics and Gynaecology “Maichin Dom”, National Genetic Laboratory, Sofia, Bulgaria
Correspondence to: Radoslava Vazharova E-mail: : radvazh@yahoo.com
Abstract Haemophilia A is a common coagulation disorder that affects about 1:10 000 males. The quality of life of the affected males in Bulgaria has only recently began to increase due to the improved access to preparations of clotting factors and the increased use of recombinant factor VIII and activated Factor VII concentrates which are safer and easier to administer. Therefore, there is still a high demand of genetic services in order to resolve issues related to carriership status in women from families with a history for bleeding disorders and to provide prenatal diagnosis in pregnancies at risk. This paper reviews the present state of genetic analysis for haemophilia A in Bulgaria and outlines the major points which genetic counseling must address when performing service for families affected by haemophilia A.
Keywords haemophilia A, preliminary analysis, prenatal diagnosis
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