Abstract Number: PB0858
Meeting: ISTH 2020 Congress
Background: Hemophilia A in an X-linked bleeding disorder caused by mutations in the FVIII factor gene. It has been shown that genetic factors constitute a risk factor for the development of inhibitors.
Aims: The objective of this study was to identify the specific variations of the FVIII genes of patients of with Hemophilia A and to determine if this mutation helps to predict by literature whether it has a risk of generating inhibitors.
Methods: Descriptive cross-sectional study where whole blood samples were collected from 12 Colombian patients of the IPS “Integral solutions SD” sent to the Molecular Hemostasis laboratory in Bonn, Germany, where the genetic material (DNA) was analyzed.
Results: Twelve patients with a clinical diagnosis of severe hemophilia A who presented or present inhibitors with an age range between 6 and 48 years with a median age of 13.5 were analyzed. The inversion of intron 22 in 6 patients (50.0%) was found in the molecular analysis, followed by a small duplication in 2 patients (16.7%) and 1 patient for the inversion of intron 1 (8.3%) as well as for a large deletion (8.3%), a nonsense mutation (8.3%) and a splice-site (8.3%) figures similar to other studies. 58.3% of the patients evaluated have mutations with a high risk of inhibitor development.
Conclusions: 83.3% of the patients evaluated presented null mutations, however the presence of high inhibitor titers was 66.7%, being more frequent in patients with inversion of intron 22. By Knowing the type of mutation and its risk factor of generating inhibitors will allows the designing an individualized treatment regimen in factor replacement therapy.
To cite this abstract in AMA style:Sarmiento Doncel S, Diaz Mosquera GA, Cortes JM, Ramirez Plazas N, Meza Cadavid FJ, Agudelo Rico C. Molecular Analysis of Factor VIII Genes in Patients with Hemophilia A; Identification of Specific Mutation in Colombian Patients with Inhibitors [abstract]. Res Pract Thromb Haemost. 2020; 4 (Suppl 1). https://abstracts.isth.org/abstract/molecular-analysis-of-factor-viii-genes-in-patients-with-hemophilia-a-identification-of-specific-mutation-in-colombian-patients-with-inhibitors/. Accessed November 28, 2023.
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