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Genetics 101: understanding transmission and genetic testing of inherited bleeding disorders


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Kasper CK, Lin JC. Prevalence of sporadic and familial haemophilia. Haemophilia 2007; 13: 90-2.KasperCKLinJCPrevalence of sporadic and familial haemophiliaHaemophilia20071390210.1111/j.1365-2516.2006.01397.x17212731Search in Google Scholar

Mårtensson A, Ivarsson S, Letelier A, et al Origin of mutation in sporadic cases of severe haemophilia A in Sweden. Clin Genet 2016; 90: 63-8. doi: 10.1111/cge.MårtenssonAIvarssonSLetelierAet alOrigin of mutation in sporadic cases of severe haemophilia A in SwedenClin Genet20169063810.1111/cgeOpen DOISearch in Google Scholar

Kling S, Ljung R, Sjörin E, et al Origin of mutation in sporadic cases of haemophilia-B. Eur J Haematol 1992; 48: 142-5.KlingSLjungRSjörinEet alOrigin of mutation in sporadic cases of haemophilia-BEur J Haematol199248142510.1111/j.1600-0609.1992.tb00585.x1348478Search in Google Scholar

Leebeek FWG, Eikenboom JCJ. Von Willebrand's disease. N Engl J Med 2017; 376: 701-2. doi: 10.1056/NEJMc1616060.LeebeekFWGEikenboomJCJVon Willebrand's diseaseN Engl J Med2017376701210.1056/NEJMc161606028199817Open DOISearch in Google Scholar

Leebeek FW, Eikenboom JC. Von Willebrand's disease. N Engl J Med 2016; 375 :2067-2080. doi: 10.1056/NEJMra1601561.LeebeekFWEikenboomJCVon Willebrand's diseaseN Engl J Med20163752067208010.1056/NEJMra160156127959741Open DOISearch in Google Scholar

Veyradier A, Boisseau P, Fressinaud E, et al A laboratory phenotype/genotype correlation of 1167 French patients from 670 families with von Willebrand disease: a new epidemiologic picture. Medicine (Baltimore) 2016; 95: e3038. doi: 10.1097/MD.0000000000003038.VeyradierABoisseauPFressinaudEet alA laboratory phenotype/genotype correlation of 1167 French patients from 670 families with von Willebrand disease: a new epidemiologic pictureMedicine (Baltimore)201695e303810.1097/MD.0000000000003038483990426986123Open DOISearch in Google Scholar

Flood VH, Christopherson PA, Gill JC, et al Clinical and laboratory variability in a cohort of patients diagnosed with type 1 VWD in the United States. Blood 2016; 127: 2481-8. doi: 10.1182/blood-2015-10-673681.FloodVHChristophersonPAGillJCet alClinical and laboratory variability in a cohort of patients diagnosed with type 1 VWD in the United StatesBlood20161272481810.1182/blood-2015-10-673681487422826862110Open DOISearch in Google Scholar

Boender J, Eikenboom J, van der Bom JG, et al Clinically relevant differences between assays for von Willebrand factor activity. J Thromb Haemost 2018; 16: 2413-24. doi: 10.1111/jth.14319.BoenderJEikenboomJvan der BomJGet alClinically relevant differences between assays for von Willebrand factor activityJ Thromb Haemost20181624132410.1111/jth.1431930358069Open DOISearch in Google Scholar

Atiq F, Meijer K, Eikenboom J, et al Comorbidities associated with higher von Willebrand factor (VWF) levels may explain the age-related increase of VWF in von Willebrand disease. Br J Haematol 2018; 182: 93-105.AtiqFMeijerKEikenboomJet alComorbidities associated with higher von Willebrand factor (VWF) levels may explain the age-related increase of VWF in von Willebrand diseaseBr J Haematol20181829310510.1111/bjh.15277603295229767844Search in Google Scholar

Lavin M, Aguila S, Schneppenheim S, et al Novel insights into the clinical phenotype and pathophysiology underlying low VWF levels. Blood 2017; 130: 2344-53. doi: 10.1182/ blood-2017-05-786699.LavinMAguilaSSchneppenheimSet alNovel insights into the clinical phenotype and pathophysiology underlying low VWF levelsBlood201713023445310.1182/blood-2017-05-786699588160828916584Open DOISearch in Google Scholar

de Wee EM, Sanders YV, Mauser-Bunschoten EP, et al Determinants of bleeding phenotype in adult patients with moderate or severe von Willebrand disease. Thromb Haemost 2012; 108: 683-92.de WeeEMSandersYVMauser-BunschotenEPet alDeterminants of bleeding phenotype in adult patients with moderate or severe von Willebrand diseaseThromb Haemost20121086839210.1160/TH12-04-024422918553Search in Google Scholar

Kadir RA, Sabin CA, Goldman E, et al Reproductive choices of women in families with haemophilia. Haemophilia 2000; 6: 33-40.KadirRASabinCAGoldmanEet alReproductive choices of women in families with haemophiliaHaemophilia20006334010.1046/j.1365-2516.2000.00353.x10632739Search in Google Scholar

Tedgård U, Ljung R, McNeil TF. Reproductive choices of haemophilia carriers. Br J Haematol 1999; 106: 421-6.TedgårdULjungRMcNeilTFReproductive choices of haemophilia carriersBr J Haematol1999106421610.1046/j.1365-2141.1999.01566.x10460601Search in Google Scholar

Solomon G, Greenberg J, Futter M, et al Understanding of genetic inheritance among Xhosa-speaking caretakers of children with hemophilia. J Genet Couns 2012; 21: 726-40. doi: 10.1007/s10897-012-9495-9.SolomonGGreenbergJFutterMet alUnderstanding of genetic inheritance among Xhosa-speaking caretakers of children with hemophiliaJ Genet Couns2012217264010.1007/s10897-012-9495-922407306Open DOISearch in Google Scholar

Gillham A, Greyling B, Wessels TM, et al Uptake of genetic counseling, knowledge of bleeding risks and psychosocial impact in a South African cohort of female relatives of people with hemophilia. J Genet Couns 2015; 24: 978-86. doi: 10.1007/s10897-015-9834-8.GillhamAGreylingBWesselsTMet alUptake of genetic counseling, knowledge of bleeding risks and psychosocial impact in a South African cohort of female relatives of people with hemophiliaJ Genet Couns2015249788610.1007/s10897-015-9834-825828422Open DOISearch in Google Scholar

Davies JS. Women with inheruted bleeding disorders and their offspring – the unresolved issues [doctoral thesis] London: UCL, 2017. Available from http://discovery.ucl.ac.uk/1547469/ (accessed 12 September 2019).DaviesJSWomen with inheruted bleeding disorders and their offspring – the unresolved issues [doctoral thesis]LondonUCL2017Available fromhttp://discovery.ucl.ac.uk/1547469/accessed 12 September 2019Search in Google Scholar

Chi C, Hyett JA, Finning KM, et al Non-invasive first trimester determination of fetal gender: a new approach for prenatal diagnosis of haemophilia. BJOG 2006; 113: 239-42.ChiCHyettJAFinningKMet alNon-invasive first trimester determination of fetal gender: a new approach for prenatal diagnosis of haemophiliaBJOG20061132394210.1111/j.1471-0528.2006.00813.x16412004Search in Google Scholar

Chi C, Lee CA, Shiltagh N, et al Pregnancy in carriers of haemophilia. Hemophilia 2008; 14: 56–64.ChiCLeeCAShiltaghNet alPregnancy in carriers of haemophiliaHemophilia200814566410.1111/j.1365-2516.2007.01561.x17941828Search in Google Scholar

Cutler J, Chappell LC, Kyle P, Madan B. Third trimester amniocentesis for diagnosis of inherited bleeding disorders prior to delivery. Haemophilia 2013; 19: 904-7. doi: 10.1111/hae.12247.CutlerJChappellLCKylePMadanBThird trimester amniocentesis for diagnosis of inherited bleeding disorders prior to deliveryHaemophilia201319904710.1111/hae.1224723919291Open DOISearch in Google Scholar

Tsui NB, Kadir RA, Chan KC, et al Noninvasive prenatal diagnosis of hemophilia by microfluidics digital PCR analysis of maternal plasma DNA. Blood 2011; 117: 3684-91. doi: 10.1182/ blood-2010-10-310789.TsuiNBKadirRAChanKCet alNoninvasive prenatal diagnosis of hemophilia by microfluidics digital PCR analysis of maternal plasma DNABlood201111736849110.1182/blood-2010-10-31078921263151Open DOISearch in Google Scholar

Hudecova I, Jiang P, Davies J, et al Noninvasive detection of F8 int22h-related inversions and sequence variants in maternal plasma of hemophilia carriers. Blood 2017; 130: 340-7. doi: 10.1182/blood-2016-12-755017.HudecovaIJiangPDaviesJet alNoninvasive detection of F8 int22h-related inversions and sequence variants in maternal plasma of hemophilia carriersBlood2017130340710.1182/blood-2016-12-755017553275628490568Open DOISearch in Google Scholar

Dahdouh EM, Balayla J, García-Velasco JA. Comprehensive chromosome screening improves embryo selection: a meta-analysis. Fertil Steril 2015; 104: 1503-12. doi: 10.1016/j. fertnstert.2015.08.038.DahdouhEMBalaylaJGarcía-VelascoJAComprehensive chromosome screening improves embryo selection: a meta-analysisFertil Steril201510415031210.1016/j.fertnstert.2015.08.03826385405Open DOISearch in Google Scholar

eISSN:
2055-3390
Language:
English
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Volume Open
Journal Subjects:
Medicine, Basic Medical Science, other, Clinical Medicine, Pharmacy, Pharmacology