Analysis of the genes responsible for hemophilia a and b and how mutations in these genes lead to the disease
DOI:
https://doi.org/10.62305/biosana.v4i4.232Keywords:
Hemophilia A; Hemophilia B; mutations; coagulation factors; F8 genes; F9 geneAbstract
Hemophilia A and B are inherited bleeding disorders caused by mutations in the F8 and F9 genes, which encode coagulation factors VIII and IX, respectively. This study aimed to examine mutations in these genes to understand their impact on disease onset and prevalence in diverse populations. To this end, a systematic review of the scientific literature published in the last five years was performed, using databases such as PubMed and ScienceDirect, applying rigorous inclusion and exclusion criteria to select relevant studies. The main results showed that mutations in the F8 gene were more common in hemophilia A, while mutations in the F9 gene were mostly associated with hemophilia B. In addition, geographic variability in the distribution of these mutations was detected, highlighting the need for diagnostic and treatment strategies tailored to specific genetic characteristics. In conclusion, the analysis of mutations in the genes responsible for hemophilia A and B provided valuable information on their prevalence and distribution, which is essential for the development of more effective and personalized treatments, as well as for the implementation of public health policies that address inequalities in access to diagnosis and treatment of this disease.
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Avendaño Castro P, Martínez Martínez R, Prado Matamba L. Prevalencia de hemofilia en pacientes pediátricos en el hospital Alfredo Noboa Montenegro [Tesis].[Ambato]: Universidad Regional Autónoma de los Andes; 2022.
Vega-Requena , Berro M, Rodríguez I, Hidalgo PC. Etiología genética de las coagulopatías congénitas en Uruguay: resultados preliminares del estudio GENHEU. Rev. Méd. Urug. 2023; 39(4): p. e973.
Islam N, Biswas A, Nazneen H, Chowdhury N, et al. Clinical profile and demographic characteristics of moderate and severe hemophilia patients in a tertiary care hospital of Bangladesh. Orphanet J Rare Dis. 2022; 17(1): p. 254.
Soucie J, Miller M, Dupervil , Le B, et al. Occurrence rates of haemophilia among males in the United States based on surveillance conducted in specialized haemophilia treatment centres. Haemophilia. 2020; 26(3): p. 487-493.
Huang L, Li L, Lin S, Chen J, Li K, Fan D, et al. Molecular analysis of 76 Chinese hemophilia B pedigrees and the identification of 10 novel mutations. Molecular Genetics & Genomic Medicine. 2020; 8(11): p. e1482.
Meriem A, Feriel T, Mahmoudi S, Zemani F. Pathogenic Effects of F8 Gene Mutations Identified in the Algerian Population Using In Silico Methods. South Asian Jourmal of Experimental Biology. 2020; 10(5): p. 344-351.
Meléndez-Aranda L, Jaloma-Cruz AR, Pastor N, Romero-Prado MMdJ. In silico analysis of missense mutations in exons 1–5 of the F9 gene that cause hemophilia B. BMC Bioinformatics. 2019; 20(363).
Shen G, Gao M, Cao Q, Li W. The Molecular Basis of FIX Deficiency in Hemophilia B. MDPI Open Access Journal. 2022; 23(5): p. 2762.
Bu Z, Lou J, Xu W, Zhang L, Tang Y. Human umbilical cord mesenchymal stem cell-based gene therapy for hemophilia B using scAAV-DJ/8-LP1-hFIXco transduction. Stem Cell Research & Therapy. 2024; 15(210).
Navas Calixto L. Genética molecular de la hemofilia A y B: aplicación del análisis de curvas de denaturación de alta resolución (HRMA) para el apoyo en su diagnóstico. [Tesis de Maestría] [d, editor. [Colombia]: Universidad de Los Andes ; 2019.
Lennon Meléndez-Aranda, et al. Análisis in silico de mutaciones sin sentido en los exones 1 a 5 del gen F9 que causan hemofilia B. Bioinformática BMC. 2019; 20(363).
Huang , Li L, Lin S, Chen J, et al. Molecular analysis of 76 Chinese hemophilia B pedigrees and the identification of 10 novel mutations. Mol Genet Genomic Med. 2020; 8(11): p. e1482.
Acosta-Aragón A, Álvarez-Mina AR, Velásquez-Paz C, Vizcaíno-Carruyo JC. Hemofilia B o enfermedad de Christmas. Medicina & Laboratorio. 2020; 24(4): p. 273-289.
Liu D, Guo R, Fu Z. Study on the Mutation of FⅨ Gene in 31 Patients with Type B Hemophilia. linical and Applied Thrombosis/Hemostasis. 2024; 30.
Sheth J, Nair, Sheth FS, Ajagekar F, et al. Burden of rare genetic disorders in India: twenty-two years’ experience of a tertiary centre. Orphanet Journal of Rare Diseases. 2024; 19(295).
Bu , Lou , Xu W, Zhang , Tang Y. Human umbilical cord mesenchymal stem cell-based gene therapy for hemophilia B using scAAV-DJ/8-LP1-hFIXco transduction. Stem Cell Research & Therapy. 2024; 15(210).
Boateng-Kuffour A, Skrobanski H, Drahos J, Kohli P, et al. Appropriateness of the EQ-5D-5L in capturing health-related quality of life in individuals with transfusion-dependent β-thalassemia: a mixed methods study. Health and Quality of Life Outcomes. 2024; 22(54).
Wang , Zhu , Wang S, Feng , Weng S. Incidence and treatment-related risk factors of inhibitor development after intensive FVIII replacement for major orthopaedic surgery in previous treated haemophilia A. Journal of Orthopaedic Surgery and Research. 2024; 19(358).
Zhao JJ, Sun XY, Tian N, Zhao Z, Yin MD, et al. Decoding the complexity of on-target integration: characterizing DNA insertions at the CRISPR-Cas9 targeted locus using nanopore sequencing. BMC Genomics. 2024; 25(189).
Zhang X, Chen Q, Li , Luo X, Luo J, et al. The effectiveness of expanded carrier screening based on next-generation sequencing for severe monogenic genetic diseases. Human Genomics. ; 18(9).
da Silva Etges A, Schneider A, Roos C, Zago Marcolino A, et al. Cost of hemophilia A in Brazil: a microcosting study. Health Economics Review. 2024; 14(62).
Ferri Grazzi , Hawes C, Camp C, Hinds D, et al. Exploring the relationship between condition severity and health-related quality of life in people with haemophilia A across Europe: a multivariable analysis of data from the CHESS II study. Health and Quality of Life Outcomes. 2024; 22(58).
Zhang Q, Chen , Zhou H, Chen G, Tong P. Crohn’s disease in hemophilic arthropathy patient: a case report. BMC Musculoskeletal Disorders. 2024; 25(505).
Zhuang T, Wang S, Yu X, et al. Current status and future perspectives of platelet-derived extracellular vesicles in cancer diagnosis and treatment. Biomarker Research. 2024; 12(88).
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