Abstract Number: PB0497
Meeting: ISTH 2020 Congress
Theme: Diagnostics and OMICs » Epigenetics, OMICs and Bioinformatics
Background: Hereditary bleeding disorders are the most frequent orphan diseases in the Colombian population. The main ones include: Hemophilia A (HA), Hemophilia B (HB) and von Willebrand disease (VWD). Currently, diagnosis relies on multiple clinical laboratory assays to assign a phenotype, a fact that can lead to an incomplete diagnosis or confuse one disease with another. In these cases, genetic studies reinforce the clinical diagnosis, assist the detection of carriers, promote early genetic counseling and predict the likelihood of inhibitor development.
In a previous study we characterized the molecular basis of 11 HA patients by sequencing the FVIII gene. Recruited patients had a clinical diagnosis made by their treating physician, with phenotypes that included joint and mucosal bleeding, low factor VIII (FVIII) levels. 40 variations were found in HA patients: 13 novel nonsynonymous benign variations, 10 novel nonsynonymous damaging variations, 1 insertion polymorphism, and 3 reported SNPs.
Aims: To validate the High-Resolution Melting (HRM) gene-scanning technique as a diagnostic approach and to develop an accessible open source code in Python for data analysis.
Methods: Disease causing variations found were used as positive controls for validation of the High-Resolution Melting (HRM) gene-scanning technique, from which 26 samples could be validated. For data analysis we developed an accessible open source code in Python that allows different laboratories to analyze HRM data correctly with better sensitivity and without bias when using different HRM equipment. This code also allows the analysis of amplicons with a length greater than 300 bp, by implementing an analysis by denaturation domains.
Results: –
Conclusions: HRM is a low-cost genetic diagnosis method that has been proposed to be incorporated in developing countries. This approach is useful in order to get real data of the population affected with bleeding disorders, given the great socioeconomic impact of these diseases on the different countries health systems.
To cite this abstract in AMA style:
Lago J, Navas DL, Lago PA, Gamboa MC, Polanía DC, Groot H. Development of an Accessible Open Source Code in Python for High-Resolution Melting Data Analysis from Patients Diagnosed with Hemophilia A in Bogotá, Colombia [abstract]. Res Pract Thromb Haemost. 2020; 4 (Suppl 1). https://abstracts.isth.org/abstract/development-of-an-accessible-open-source-code-in-python-for-high-resolution-melting-data-analysis-from-patients-diagnosed-with-hemophilia-a-in-bogota-colombia/. Accessed May 16, 2024.« Back to ISTH 2020 Congress
ISTH Congress Abstracts - https://abstracts.isth.org/abstract/development-of-an-accessible-open-source-code-in-python-for-high-resolution-melting-data-analysis-from-patients-diagnosed-with-hemophilia-a-in-bogota-colombia/