Genetic counseling of hemophilia carriers

Seminars in Thrombosis and Hemostasis

Volumn 29, Issue 1, 2003, Pages 31-36

  Ljung, Rolf ^a   Tedgård, Ulf ^b  

^a LUND UNIVERSITY HOSPITAL   (Sweden)

^b LUND UNIVERSITY   (Sweden)

Author keywords

Factor VIII; Hemophilia A; Mutation

Indexed keywords

BLOOD CLOTTING FACTOR 8;

ETHICS; GENE MUTATION; GENETIC ANALYSIS; GENETIC COUNSELING; GENETIC DISORDER; GENETIC LINKAGE; GENOTYPE; HEMOPHILIA; HUMAN; MOSAICISM; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; REVIEW;

EID: 0037325171     PISSN: 00946176     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2003-37937     Document Type: Review

References (26)

1. Peake IR, Lillicrap DP, Boulyjenkov V, et al. Report of a joint WHO/WFH meeting on the control of haemophilia: carrier detection and prenatal diagnosis [published erratum appears in Blood Coagul Fibrinolysis 1994;5:148]. Blood Coagul Fibrinolysis 1993;4:313-344
2. Peake IR, Lillicrap DP, Boulyjenkov V, et al. Haemophilia: strategies for carrier detection and prenatal diagnosis. Bull World Health Organ 1993;71:429-458
3. Ljung R, Petrini P, Tengborn L, Sjörin E. Haemophilia B mutations in Sweden: a population based study of mutational heterogeneity. Br J Haematol 2001;113:81-86
4. Kling S, Ljung R, Sjörin E, et al. Origin of mutation in sporadic cases of haemophilia-B. Eur J Haematol 1992;48:142-145
5. Graham JB, Pizza CR, Chediak J, et al. Carrier detection in hemophilia A: a cooperative international study. I. The carrier phenotype. Blood 1986;67:1554-1559
6. Green PP, Mannucci PM, Briet E, et al. Carrier detection in hemophilia A: a cooperative international study. II. The efficacy of a universal discriminant. Blood 1986;67:1560-1567
7. Lakich D, Kazazian HH Jr, Antonarakis SE, Gitschier J. Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A [see comments]. Nat Genet 1993;5:236-241
8. Naylor J, Brinke A, Hassock S, Green PM, Giannelli F. Characteristic mRNA abnormality found in half the patients with severe haemophilia A is due to large DNA inversions. Hum Mol Genet 1993;2:1773-1778
9. Kemball Cook G, Tuddenham EGD, Wacey AI. The factor VIII structure and mutation resource site: HAMSTeRS version 4. Nucleic Acids Res 1998;26:216-219
10. Leuer M, Oldenburg J, Lavergne JM, et al. Somatic mosaicism in haemophilia A: a fairly common event. Am J Hum Genet 2001;69:75-87
11. Ljung R, Kling S, Sjörin E, Nilsson IM. More than half the sporadic cases of hemophilia A in Sweden are due to a recent mutation. Acta Paediatr Scand 1991;80:343-348
12. Ljung R, Sjörin E. Origin of sporadic cases of haemophilia A. Br J Haematol 1999;106:870-874
13. Becker J, Schwaab R, Moller Taube A, et al. Characterization of the factor VIII defect in 147 patients with sporadic hemophilia A: family studies indicate a mutation type-dependent sex ratio of mutation frequencies. Am J Hum Genet 1996;58:657-670
14. Varekamp I, Suurmeijer TP, Brocker Vriends AH, et al. Carrier testing and prenatal diagnosis for hemophilia: experiences and attitudes of 549 potential and obligate carriers. Am J Med Genet 1990;37:147-154
15. Varekamp I, Suurmeijer T, Brocker Vriends A, Rosendaal FR. Hemophilia and the use of genetic counseling and carrier testing within family networks. Birth Defects Orig Artic Ser 1992;28:139-148
16. Varekamp I, Suurmeijer TP, Rosendaal FR, Brocker Vriends AH. The use of preventive health care services: carrier testing for the genetic disorder haemophilia. Soc Sci Med 1993;37:639-648
17. Tedgård U. Carrier testing and prenatal diagnosis of haemophilia - utilisation and psychological consequences. Haemophilia 1998;4:365-369
18. Tedgård U, Ljung R, McNeil TF. How do carriers of hemophilia and their spouses experience prenatal diagnosis by chorionic villus sampling? Clin Genet 1999;55:26-33
19. Tedgård U, Ljung R, McNeil TF. Long-term psychological effects of carrier testing and prenatal diagnosis of haemophilia: comparison with a control group. Prenat Diagn 1999;19:411-417
20. Francis RB Jr, Kasper CK. Reproduction in hemophilia. JAMA 1983;250:3192-3195
21. Lubs ML. Does genetic counseling influence risk attitudes and decision making? Birth Defects Orig Artic Ser 1979;15:355-367
22. Kraus EM, Brettler DB. Assessment of reproductive risks and intentions by mothers of children with hemophilia. Am J Med Genet 1988;31:259-267
23. Hoyer LW, Carta CA, Golbus MS, Hobbins JC, Mahoney MJ. Prenatal diagnosis of classic hemophilia (hemophilia A) by immunoradiometric assays. Blood 1985;65:1312-1317
24. Tedgård U, Ljung R, McNeil T, Tedgård E, Schwartz M. How do carriers of hemophilia experience prenatal diagnosis (PND)? Carriers' immediate and later reactions to amniocentesis and fetal blood sampling. Acta Paediatr Scand 1989;78:692-700
25. Tedgård U, Ljung R, McNeil TF. Reproductive choices of haemophilia carriers. Br J Haematol 1999;106:421-426
26. Beeson D, Golbus M. Decision making: whether or not to have prenatal diagnosis and abortion for X-linked conditions. Am J Med Genet 1985;20:107-114