Abstract
Background: Proteins act as clotting factors to stop bleeding at the lesion site.
This implies that people with hemophilia tend to bleed longer after an injury and are more
prone to internal bleeding. Depending on the type of hemophilia, individuals with hemophilia
will have lesser amounts of factor VIII or factor IX than people without it.
Objective: By analyzing the gene variant of hemophilia affected patient we can predict the severity
of disease at earlier stage which helps to avoid further complications.
Methods: Predicting hemophilia can be achieved through potential technologies like machine
learning. Using these technologies, one can detect and predict the severity of hemophilia, such
as mild, moderate, or severe.
Results: By comparing the methods used in protein structure analysis, the advantages and limitations
of methods used in protein structure analysis are discussed.
Conclusion: The best practices in predicting hemophilia are highlighted in this patent study
and particularly aim at the basic understanding of applying the potential technologies in the
prediction of hemophilia and its severity. This study represents recent research on hemophilia
and the use of different machine learning techniques (MLT) in this area.
Keywords:
Hemophilia, machine learning technique, protein structure, gene variant analysis, protein residue network, prophylaxis, FVIII.
Graphical Abstract
[4]
Bethany Samuelson Bannow, Michael Recht, Claude Négrier, Cédric Hermans, Erik Berntorp, Hermann Eichler, Maria Elisa Mancusof, Robert Klamrothg, Jamie O’Hara, and Elena Santagostino, "Factor VIII: Long-established role in haemophilia A and emerging evidence beyond haemostasis", Blood Rev., vol. 35, pp. 43-50, 2019.
[37]
A.M. Sequeira, D. Lousa, and M. Rocha, "ProPythia: A Python package for protein classification based on machine and deep learning", Neurocomputing, 2021.
[42]
Wei Wang, Y. John Wang, and Drew N. Kelner, "Coagulation factor VIII: structure and stability", Int. J. Pharm., vol. 259, pp. 1-15, 2003.
[66]
A. Tuinenburg, E. Mauser-Bunschoten, M. Verhaar, D. Biesma, and R. Schutgens, "Cardiovascular disease in patients with haemophil- ia", Journal of Thrombosis Haemostasis, vol. 7, pp. 247-254, 2009.
[71]
Katherine A High and Rodney M Camire, "Compositions and methods for the treatment of hemophilia A", US7211558B2.
[72]
Oral Alpan, "Oral treatment of haemophilia", US20040209829A1.
[73]
Bianca Conti-fine, "Method to treat haemophilia", US20040096456A1.
[74]
Didier Saboulard, "Novel VIII Factors for the Treatment of Type A Hemophilia", US20100311659A1.
[75]
Didier Saboulard, "Novel viii factors for the treatment of type a haemophilia", EP2125885B1.
[76]
C. Jeffrey, "Methods and compositions for treating haemophilia", WO2015089046A1.
[77]
Lili Wang, and M. James, "Gene therapy for treating hemophilia b", US20190076550A1.
[78]
Amit Nathwani, "Method of treating hemophilia A", US10792336B2.
[79]
D Philip, "Methods and compositions for treating hemophilia b", WO2012051343A1.
[80]
"Sanjeev Gupta and Antonia Follenzi", US20130071361A1.