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F. Atiq, K. Meijer, J. Eikenboom, K. Fijnvandraat, E. Mauser-Bunschoten, K. Galen, M. Nijziel, P. Ypma, J. Meris, B. Gorkom, J. Bom, M. Maat, M. Cnossen, F. Leebeek (2018)
Comorbidities associated with higher von Willebrand factor (VWF) levels may explain the age‐related increase of VWF in von Willebrand diseaseBritish Journal of Haematology, 182
S. Kling, R. Ljung, Elsy Sjorin, J. Montandon, P. Green, F. Giannelli, I. Nilsson (1992)
Origin of mutation in sporadic cases of haemophilia‐BEuropean Journal of Haematology, 48
M. Lavin, S. Águila, S. Schneppenheim, Niall Dalton, Kenneth Jones, J. O’Sullivan, N. O'Connell, K. Ryan, B. White, M. Byrne, Marie Rafferty, Mairead Doyle, Margaret Nolan, R. Preston, U. Budde, P. James, J. Paola, J. O’Donnell (2017)
Novel insights into the clinical phenotype and pathophysiology underlying low VWF levels.Blood, 130 21
N. Tsui, R. Kadir, K. Chan, C. Chi, G. Mellars, E. Tuddenham, T. Leung, T. Lau, R. Chiu, Y. Lo (2011)
Noninvasive prenatal diagnosis of hemophilia by microfluidics digital PCR analysis of maternal plasma DNA.Blood, 117 13
J. Boender, J. Eikenboom, J. Bom, K. Meijer, J. Meris, K. Fijnvandraat, M. Cnossen, B. Gorkom, W. Heerde, E. Mauser-Bunschoten, M. Maat, F. Leebeek (2018)
Clinically relevant differences between assays for von Willebrand factor activityJournal of Thrombosis and Haemostasis, 16
A. Veyradier, P. Boisseau, É. Fressinaud, C. Caron, C. Ternisien, M. Giraud, C. Zawadzki, M. Trossaert, Nathalie Itzhar-Baïkian, M. Dreyfus, R. d’Oiron, A. Borel‐Derlon, S. Susen, S. Bézieau, C. Denis, J. Goudemand (2016)
A Laboratory Phenotype/Genotype Correlation of 1167 French Patients From 670 Families With von Willebrand DiseaseMedicine, 95
Kadir, Sabin, Goldman, Pollard, Economides, Lee (2000)
Reproductive choices of women in families with haemophiliaHaemophilia, 6
J. Cutler, L. Chappell, P. Kyle, B. Madan (2013)
Third trimester amniocentesis for diagnosis of inherited bleeding disorders prior to deliveryHaemophilia, 19
E. Wee, Y. Sanders, E. Mauser-Bunschoten, J. Bom, M. Degenaar-Dujardin, J. Eikenboom, A. Goede‐Bolder, B. Gorkom, K. Meijer, K. Hamulyák, M. Nijziel, K. Fijnvandraat, F. Leebeek (2012)
Determinants of bleeding phenotype in adult patients with moderate or severe von Willebrand diseaseThrombosis and Haemostasis, 108
A. Gillham, Brenda Greyling, Tina-Marié Wessels, B. Mbele, R. Schwyzer, A. Krause, J. Mahlangu (2015)
Uptake of Genetic Counseling, Knowledge of Bleeding risks and Psychosocial Impact in a South African Cohort of Female Relatives of People with HemophiliaJournal of Genetic Counseling, 24
C. Chi, J. Hyett, KM Finning, C. Lee, R. Kadir (2006)
Non‐invasive first trimester determination of fetal gender: a new approach for prenatal diagnosis of haemophiliaBJOG: An International Journal of Obstetrics & Gynaecology, 113
A. Mårtensson, Stina Ivarsson, A. Letelier, E. Manderstedt, C. Halldén, R. Ljung (2016)
Origin of mutation in sporadic cases of severe haemophilia A in SwedenClinical Genetics, 90
I. Hudecova, P. Jiang, J. Davies, Y. Lo, R. Kadir, R. Chiu (2017)
Noninvasive detection of F8 int22h-related inversions and sequence variants in maternal plasma of hemophilia carriers.Blood, 130 3
U. Tedgård, R. Ljung, T. Mcneil (1999)
Reproductive choices of haemophilia carriersBritish Journal of Haematology, 106
C. Chi, C. Lee, N. Shiltagh, Amanullah Khan, D. Pollard, R. Kadir (2007)
Pregnancy in carriers of haemophiliaHaemophilia, 14
E. Dahdouh, J. Balayla, J. García-Velasco (2015)
Comprehensive chromosome screening improves embryo selection: a meta-analysis.Fertility and sterility, 104 6
G. Solomon, J. Greenberg, Merle Futter, Laura Vivian, C. Penn (2012)
Understanding of Genetic Inheritance among Xhosa-Speaking Caretakers of Children with HemophiliaJournal of Genetic Counseling, 21
V. Flood, V. Flood, P. Christopherson, J. Gill, J. Gill, K. Friedman, S. Haberichter, S. Haberichter, D. Bellissimo, R. Udani, Mahua Dasgupta, R. Hoffmann, M. Ragni, A. Shapiro, J. Lusher, S. Lentz, T. Abshire, C. Leissinger, W. Hoots, M. Manco‐Johnson, R. Gruppo, L. Boggio, Kate Montgomery, A. Goodeve, P. James, D. Lillicrap, I. Peake, Robert Montgomery, Robert Montgomery (2016)
Clinical and laboratory variability in a cohort of patients diagnosed with type 1 VWD in the United States.Blood, 127 20
Carol Kasper, J. Lin (2007)
Prevalence of sporadic and familial haemophiliaHaemophilia, 13
AbstractHaemophilia is an X-linked inherited disorder that affects males and females, though the bleeding risk in girls and women has traditionally been under-recognised. About one third of haemophilia cases occur in individuals where there is no known family history. The gene mutations for rare bleeding disorders are not carried on the X chromosome and are therefore not sex-linked; however, the risk of passing on the condition is greatly increased for consanguineous parents where both parents may carry a copy of the fault in the genetic code which causes the condition. Genetic testing should be offered to every prospective mother, ideally before conception. This should be supported by counselling as the implications for family planning are profound.Von Willebrand factor (VWF) has an important role in primary and secondary haemostasis. Loss of function or low levels of VWF are associated with spontaneous bleeding causing nosebleeds, heavy periods and bruising as well as jpost-surgical bleeding. Joint bleeding and intracranial haemorrhage can also occur in those with a severe type of VWF. Diagnosis depends on bleeding assessment, family history and measurement of VWF. There are three types of VWD: Types 1 and 3 are caused by low or absent levels of VWD; Type 2 is caused by loss of function. Of these, Type 3 VWD is associated with the most severe bleeding risk but there is wide variation in bleeding phenotype among the other sub-types. The correlation between genetic mutation and bleeding phenotype is weak in VWD; therefore genetic testing is mainly useful for interpreting the risk when planning a family and to allow prenatal diagnosis in severe bleeding disorders.Genetic testing is essential for prospective parents to make fully informed decisions about having a family and how or whether to proceed with a pregnancy. The rationale for prenatal testing is to determine the bleeding status of the foetus and to inform decisions about managing delivery. Women may choose to terminate a pregnancy to avoid having a child with severe haemophilia. For some couples the option of adoption or not having children may be explored. Options for prenatal diagnostic testing include non-invasive methods, e.g. assessment of free foetal DNA in maternal plasma to determine the sex of a baby from 10 weeks in pregnancy, and invasive methods, e.g. chorionic villus sampling or amniocentesis, to determine the inheritance of the genetic mutation. Invasive methods are associated with a very small increased risk of pregnancy loss or early labour, which many couples feel is an unacceptable risk. Advanced techniques such as preimplantation screening also available, but require a huge commitment as this involves an IVF technique.
The Journal of Haemophilia Practice – de Gruyter
Published: Jan 1, 2019
Keywords: Women with bleeding disorders; haemophilia; von Willebrand disease; transmission; inheritance; diagnosis; prenatal testing
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