Genetic diagnosis in hemophilia and von Willebrand disease
Phenotypic assays are first-line in terms of diagnostic testing for inherited bleeding disorders. However, since the characterization of the genes that encode coagulation factors in the 1980s, significant progress has been made in translating this knowledge for diagnostic and therapeutic purposes. F...
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| Published in | Blood reviews Vol. 31; no. 1; pp. 47 - 56 |
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| Main Authors | , |
| Format | Journal Article |
| Language | English |
| Published |
England
Elsevier Ltd
01.01.2017
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| Subjects | |
| Online Access | Get full text |
| ISSN | 0268-960X 1532-1681 1532-1681 |
| DOI | 10.1016/j.blre.2016.08.003 |
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| Abstract | Phenotypic assays are first-line in terms of diagnostic testing for inherited bleeding disorders. However, since the characterization of the genes that encode coagulation factors in the 1980s, significant progress has been made in translating this knowledge for diagnostic and therapeutic purposes. For the hemophilias, molecular genetic testing can be used to determine carrier status, establish a prenatal diagnosis and predict the likelihood of inhibitor development or anaphylaxis in response to infused coagulation factor concentrates. In contrast, for von Willebrand disease (VWD), significant recent advances in our understanding of the molecular genetic basis of the disease have allowed for the development of rational approaches to genetic diagnostics. Questions remain however, about this complex genetic disorder and how to incorporate emerging knowledge into diagnostic strategies. |
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| AbstractList | Abstract Phenotypic assays are first-line in terms of diagnostic testing for inherited bleeding disorders. However, since the characterization of the genes that encode coagulation factors in the 1980s, significant progress has been made in translating this knowledge for diagnostic and therapeutic purposes. For the hemophilias, molecular genetic testing can be used to determine carrier status, establish a prenatal diagnosis and predict the likelihood of inhibitor development or anaphylaxis in response to infused coagulation factor concentrates. In contrast, for von Willebrand disease (VWD), significant recent advances in our understanding of the molecular genetic basis of the disease have allowed for the development of rational approaches to genetic diagnostics. Questions remain however, about this complex genetic disorder and how to incorporate emerging knowledge into diagnostic strategies. Phenotypic assays are first-line in terms of diagnostic testing for inherited bleeding disorders. However, since the characterization of the genes that encode coagulation factors in the 1980s, significant progress has been made in translating this knowledge for diagnostic and therapeutic purposes. For the hemophilias, molecular genetic testing can be used to determine carrier status, establish a prenatal diagnosis and predict the likelihood of inhibitor development or anaphylaxis in response to infused coagulation factor concentrates. In contrast, for von Willebrand disease (VWD), significant recent advances in our understanding of the molecular genetic basis of the disease have allowed for the development of rational approaches to genetic diagnostics. Questions remain however, about this complex genetic disorder and how to incorporate emerging knowledge into diagnostic strategies. Phenotypic assays are first-line in terms of diagnostic testing for inherited bleeding disorders. However, since the characterization of the genes that encode coagulation factors in the 1980s, significant progress has been made in translating this knowledge for diagnostic and therapeutic purposes. For the hemophilias, molecular genetic testing can be used to determine carrier status, establish a prenatal diagnosis and predict the likelihood of inhibitor development or anaphylaxis in response to infused coagulation factor concentrates. In contrast, for von Willebrand disease (VWD), significant recent advances in our understanding of the molecular genetic basis of the disease have allowed for the development of rational approaches to genetic diagnostics. Questions remain however, about this complex genetic disorder and how to incorporate emerging knowledge into diagnostic strategies.Phenotypic assays are first-line in terms of diagnostic testing for inherited bleeding disorders. However, since the characterization of the genes that encode coagulation factors in the 1980s, significant progress has been made in translating this knowledge for diagnostic and therapeutic purposes. For the hemophilias, molecular genetic testing can be used to determine carrier status, establish a prenatal diagnosis and predict the likelihood of inhibitor development or anaphylaxis in response to infused coagulation factor concentrates. In contrast, for von Willebrand disease (VWD), significant recent advances in our understanding of the molecular genetic basis of the disease have allowed for the development of rational approaches to genetic diagnostics. Questions remain however, about this complex genetic disorder and how to incorporate emerging knowledge into diagnostic strategies. |
| Author | James, Paula D. Swystun, Laura L. |
| Author_xml | – sequence: 1 givenname: Laura L. surname: Swystun fullname: Swystun, Laura L. email: swystunl@queensu.ca organization: Department of Pathology and Molecular Medicine, Richardson Laboratory, 88 Stuart St, Queen's University, Kingston, ON K7L 3N6, Canada – sequence: 2 givenname: Paula D. surname: James fullname: James, Paula D. email: jamesp@queensu.ca organization: Department of Medicine, Etherington Hall, 94 Stuart St, Queen's University, Kingston, ON K7L 3N6, Canada |
| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/27596108$$D View this record in MEDLINE/PubMed |
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| Keywords | von Willebrand disease Bleeding disorder Genotyping Hemophilia |
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| Snippet | Phenotypic assays are first-line in terms of diagnostic testing for inherited bleeding disorders. However, since the characterization of the genes that encode... Abstract Phenotypic assays are first-line in terms of diagnostic testing for inherited bleeding disorders. However, since the characterization of the genes... |
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| SubjectTerms | Bleeding disorder Factor VIII - genetics Genetic Predisposition to Disease Genetic Testing - methods Genetic Testing - standards Genotyping Hematology, Oncology and Palliative Medicine Hemophilia Hemophilia A - diagnosis Hemophilia A - genetics Hemophilia B - diagnosis Hemophilia B - genetics Humans Mutation Quality Assurance, Health Care von Willebrand disease von Willebrand Diseases - diagnosis von Willebrand Diseases - genetics von Willebrand Factor - genetics |
| Title | Genetic diagnosis in hemophilia and von Willebrand disease |
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