Next Article in Journal
Reference Results for Blood Parameter Changes and Recovery after Pelvic Radiation without Chemotherapy
Previous Article in Journal
Extramedullary Acute Leukemia—Still an Unforeseen Presentation
 
 
Search for Articles:
Title / Keyword
Author / Affiliation / Email
Journal
Article Type
 
 
Advanced Search
 
Section
Special Issue
Volume
Issue
Number
Page
 
Journals
Hematology Reports
Volume 14
Issue 2
10.3390/hematolrep14020022
hematolrep-logo
Submit to this Journal Review for this Journal Propose a Special Issue
► Article Menu

Article Menu

share Share announcement Help format_quote Cite question_answer Discuss in SciProfiles
first_page
settings
Order Article Reprints
Font Type:
Arial Georgia Verdana
Font Size:
Aa Aa Aa
Line Spacing:
Column Width:
Background:
Brief Report

Genetic Characterization of the Factor VIII Gene in a Cohort of Colombian Patients with Severe Hemophilia A with Inhibitors

by
Samuel Sarmiento Doncel
1,2,*,
Gina Alejandra Diaz Mosquera
1,
Ronald Guillermo Pelaez
2,
Javier Mauricio Cortes
1,
Carol Agudelo Rico
1,
Francisco Javier Meza Cadavid
1,3,
Nelson Ramirez Plazas
1,4,
Ivan Alfredo Perdomo Amar
1,
Jorge Enrique Peña Siado
1,
Fabian Andres Parrado Rey
1,
Cesar Alberto Montaño
1 and
Alexys Maza Villadiego
1
1
Integral Solutions SD SAS, Integral Solutions Research, Bogota 110121, Colombia
2
Life Sciences and Health Research Group, Graduates School, CES University, Medellin 050021, Colombia
3
Hospital Universitario San Jorge, Pereira 660002, Colombia
4
Hospital Universitario Hernando Moncaleano Perdomo de Neiva, Neiva 410010, Colombia
*
Author to whom correspondence should be addressed.
Hematol. Rep. 2022, 14(2), 149-154; https://doi.org/10.3390/hematolrep14020022
Submission received: 2 March 2022 / Revised: 20 April 2022 / Accepted: 28 April 2022 / Published: 4 May 2022
Versions Notes

Abstract

Hemophilia A is an X-linked bleeding disorder caused by mutations in the FVIII gene. Genetic factors have been shown to be a risk factor for the development of inhibitors. We aimed to identify the specific variations of the FVIII gene of patients with hemophilia A with inhibitors and their association with the inhibitor titer. Methods: Cross-sectional descriptive study. We included 12 Colombian patients from a health care provider, “Integral Solutions SD”, who underwent analysis of genetic material (DNA), which was reported by the Molecular Hemostasis Laboratory in Bonn, Germany. Results: All of these patients were diagnosed with severe hemophilia A with inhibitors; ages ranged between 6 and 48 years, with a median age of 13.5 years. Molecular analysis showed the inversion of intron 22 in six patients (50.0%), a small duplication in two patients (16.7%), the inversion of intron 1 in one patient (8.3%), a large deletion (8.3%), a nonsense mutation (8.3%) and a splice-site (8.3%), findings similar to those of other studies. A total of 58.3% of the patients presented inversion mutations with a high risk of developing inhibitors A total of 83.3% of the evaluated patients presented null mutations; however the presence of high inhibitor titers was 66.7%. The most frequent mutation was the inversion intron 22. Knowing the type of mutation and its association as a risk factor for generating inhibitors invites us to delve into other outcomes such as residual values of coagulation FVIII as well as its impact on the half-life of the exogenous factor applied in prophylaxis.
Keywords: factor VIII; hemophilia A; inhibitor; mutation; X chromosome factor VIII; hemophilia A; inhibitor; mutation; X chromosome

Share and Cite

MDPI and ACS Style

Doncel, S.S.; Mosquera, G.A.D.; Pelaez, R.G.; Cortes, J.M.; Rico, C.A.; Cadavid, F.J.M.; Plazas, N.R.; Amar, I.A.P.; Siado, J.E.P.; Rey, F.A.P.; et al. Genetic Characterization of the Factor VIII Gene in a Cohort of Colombian Patients with Severe Hemophilia A with Inhibitors. Hematol. Rep. 2022, 14, 149-154. https://doi.org/10.3390/hematolrep14020022

AMA Style

Doncel SS, Mosquera GAD, Pelaez RG, Cortes JM, Rico CA, Cadavid FJM, Plazas NR, Amar IAP, Siado JEP, Rey FAP, et al. Genetic Characterization of the Factor VIII Gene in a Cohort of Colombian Patients with Severe Hemophilia A with Inhibitors. Hematology Reports. 2022; 14(2):149-154. https://doi.org/10.3390/hematolrep14020022

Chicago/Turabian Style

Doncel, Samuel Sarmiento, Gina Alejandra Diaz Mosquera, Ronald Guillermo Pelaez, Javier Mauricio Cortes, Carol Agudelo Rico, Francisco Javier Meza Cadavid, Nelson Ramirez Plazas, Ivan Alfredo Perdomo Amar, Jorge Enrique Peña Siado, Fabian Andres Parrado Rey, and et al. 2022. "Genetic Characterization of the Factor VIII Gene in a Cohort of Colombian Patients with Severe Hemophilia A with Inhibitors" Hematology Reports 14, no. 2: 149-154. https://doi.org/10.3390/hematolrep14020022

APA Style

Doncel, S. S., Mosquera, G. A. D., Pelaez, R. G., Cortes, J. M., Rico, C. A., Cadavid, F. J. M., Plazas, N. R., Amar, I. A. P., Siado, J. E. P., Rey, F. A. P., Montaño, C. A., & Villadiego, A. M. (2022). Genetic Characterization of the Factor VIII Gene in a Cohort of Colombian Patients with Severe Hemophilia A with Inhibitors. Hematology Reports, 14(2), 149-154. https://doi.org/10.3390/hematolrep14020022

Article Metrics

Back to TopTop