The second monogenic disease studied systematically for entire Slovenian population was haemophilia A. Genetic analysis was performed from 1995 to 2000.
Hemophilia A is a genetic deficiency of clotting factor VIII that causes abnormal or excessive bleeding and poor blood clotting. In most cases, it is inherited as an X-linked recessive trait (although there are cases resulting from spontaneous mutations), so males are commonly affected while women are usually carriers of the disease. Haemophilia A occurs in about 1 in every 5,000 live male births. Since it can be caused by many different mutations, initial diagnosis and classification can be done by measuring protein activity rather than genetic testing, however, once a known case of the disease is identified, genetic testing is recommended for family members. Carrier identification through molecular genetic testing, prenatal diagnosis and genetic counseling help individuals understand the risk of having a child with haemophilia.
Research projects:
- Interinstitutional national research program P1-0104 Functional Genomics and Biotechnology for Health; R. Komel, 1.1.1999―31.12.2003; WP1 – Molecular genetic analysis of monogenic diseases.
- J1―8762 Molecular biology and genetics in biomedical research; national basic research project, R. Komel, 1/1/1997―31/12/1999.
Clinical partners:
- Paediatric Clinic UKC (Dr. Majda Benedik Dolničar, M.D.)
- Slovenian Haemophilia Society (Dr. Jože Faganel).
Clinical translation:
From 1995 – 2000 MCMB performed DNA analysis of haemophilia-A for the Haematological Department of the Paediatric Clinic in Ljubljana, and finally in 2000 genetic analysis was introduced to the Paediatric Clinic as a diagnostic procedure along with genetic counseling.
Researchers involved:
| Researcher | Position |
| Radovan Komel | Head of Department / Project leader |
| Lana Strmecki | PhD student |
| Katja Vouk | PhD student |
Education:
| Student | Thesis | Title | Year | Supervisor |
| Lana Strmecki | PhD | Detection and characterization of coagulation factor VIII gene mutations in haemophilia A. | 1998 | Radovan Komel |
| Lana Strmecki | MSc | Molecular genetic analysis and diagnosis of hemophilia A in slovenian population. | 1995 | Radovan Komel |
Selected publications:
- Strmecki L. et al. (2014): A Patient with Combined Haemophilia A and Duchenne Muscular Dystrophy. Int. J. Hematol. 99(2): 184-187.
- Benedik-Dolničar et al. (2002): Haemophilia A and Mucopolysaccharidosis I-H (Hurler Syndrome) : a case report. Haematologica 87(8): [1-5 pp.].
- Strmecki L. et al. (1999): Screen of 55 Slovenian haemophilia A patients: identification of 2 novel mutations (S-1R and IVS23+1G->A) and discussion of mutation spectrum. Human Mutation 13(5): 413.
- Strmecki L. et al. (1999): Inversions of the factor VIII gene in Slovenian patients with severe haemophilia A. Eur. J. Haematol. 63(1): 64-66.
- Strmecki L. et al (1998): A novel mutation Q602STOP in exon 12 of the FVIII gene. Human Heredity 48(2): 119-120.
- Strmecki L. et al. (1995): Determination of informativity for the intragenic polymorphic marker Bcl I and prenatal diagnosis of hemophilia A in Slovenian population. Zdravn. Vest. 64(10): 573-576.
Information:
majda.benedik-dolnicar@mf.uni-lj.si