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Published on: October 3, 2019
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Genomic approaches to bleeding disorders
F Peyvandi1,2, C P M Hayward3
1Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
Summary
Genetic diagnosis for rare bleeding and platelet disorders is advancing, with DNA sequencing identifying mutations. New genomic technologies are crucial for cases lacking identified genetic defects, improving diagnostic infrastructure.
Area of Science:
- Genetics
- Hematology
- Molecular Biology
Background:
- Genetic diagnosis of common inherited bleeding disorders like hemophilia A and B is well-established.
- Understanding of rare bleeding disorders and platelet disorders genetics is less advanced.
- Rare bleeding disorders are typically autosomal recessive, while some platelet disorders are autosomal dominant.
Purpose of the Study:
- To review the current state of genetic diagnosis for inherited bleeding and platelet disorders.
- To highlight the utility of DNA sequencing in identifying causative mutations.
- To discuss the potential of new genomic technologies for undiagnosed cases.
Main Methods:
- DNA sequencing for identifying mutations in coding regions and splice sites.
- Review of genetic characterization for inherited bleeding and platelet disorders.
- Discussion of next-generation sequencing and other genomic technologies.
Main Results:
- DNA sequencing has been effective for many inherited bleeding and platelet disorders.
- A significant percentage (5-10%) of severe clotting factor deficiencies lack identified genetic defects.
- Genetic characterization of inherited platelet disorders was previously limited to prevalent conditions.
Conclusions:
- Advanced genomic technologies, including next-generation sequencing, are essential for diagnosing patients with unidentified genetic defects.
- These new methods necessitate significant bioinformatics analysis and infrastructure upgrades.
- Improved genetic diagnostic approaches are critical for rare bleeding and platelet disorders.
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