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Biomedical subjects

A Filová

Publications and source records attributed to A Filová.

13 recordsLinked to original sources
PubMed1998

[Analysis of inversion in intron 22 of the factor F VIII:C gene in patients with hemophilia A in the Slovak population].

Hemophilia A is the result of Factor F VIIIC (F8C) gene mutations. Predominating mutation is inversion, occurring in about 50% of patients with severe form of the disease. Inversion is the result of homologous recombination between gene A located on the 22. introne of the F8C gene and one of its telomeric copies located about 500 kb from 5'end of the factor F VIIIC gene. This study presents the results of this mutation screening in 84 nonrelated patients with hemophilia A. Inversion was identified in 22 (50%) of 44 patients with severe form and in 1 (from 13) with moderate form of the disease. Distal type of inversion was more frequent (82.6%) than proximal one. The identification of iversions enabled direct DNA diagnosis in 50% of patients with severe form of the disease and will be successfully used in the prenatal diagnosis and carrier testing, mainly in families with sporadic occurrence of the disease. (Tab. 1, Fig. 2, Ref. 18.)

Chromosome Inversion↗
PubMed1985

Care for patients with hereditary coagulopathies in Slovakia.

Contemporary situation with the care for hereditary coagulopathies in Slovakia is discussed. The mode of obtaining the data for central registration of patients suffering from hereditary coagulopathies in Slovakia is elucidated. Importance of such a registration for prospective planning guaranteeing needs of patients and of concentration of medical care in hands of specialists in haematology and blood transfusion is pointed out. The specialists in Slovakia are responsible for both diagnosis and registration as well as for effective therapy of haemorrhagic incidents in the patients. The care is mostly realized in 3 of 4 regional departments of haematology and blood transfusion, occasionally also in some chosen district departments. Preparation of antihaemolytic blood fractions in Slovakia is connected exclusively to the national transfusion fractionation programme in departments of haematology and blood transfusion. With regard to the principle of free of charge blood donation and medical care, this mode of preparation is the most effective economically, because of the relatively high yield of active coagulation factors. Concrete data on the prevalence of hereditary coagulopathies in Slovakia are presented. Comparison of the number of registered haemophiliacs in Slovakia with that given in other countries indicates a very high registration of the hereditary haemorrhagic diseases in our country, which also follows from the centralized active medical care. To secure further rise of the haemophiliacs demands, however, it will be necessary to increase efforts in blood donor campaigns and to improve equipment of regional departments of haematology and blood transfusion which are responsible for medical care.

Blood Coagulation Disorders↗
PubMedDate not supplied

Factor VIII gene inversions in haemophilia A patients of Slovakia.

Haemophilia A is caused by a broad range of mutations in the factor VIII (FVIII) gene. The most frequent of them is a large inversion, which appears to be the underlying defect in approximately 45% of all severely affected patients (FVIII < or = 1%). The results here are of 84 unrelated Slovak haemophilia A cases. The factor VIII inversion was identified in 22 of 44 (50%) patients with severe haemophilia A and in 1 of 13 patients with moderately severe disease. The inversions of distal type were more frequent (82.6%) than proximal ones (17.4%).

Chromosome Inversion↗