Increased coagulation Factor VIII (FVIII) replacement in patients with moderate Hemophilia A of non-O blood groups
DOI:
https://doi.org/10.33448/rsd-v13i11.47484Keywords:
Hemophilia A; ABO Blood Group; Von Willebrand Factor; Ristocetin Cofactor; FVIII Replacement Therapy.Abstract
Objective: The present study investigated the association between the ABO blood group and the annual consumption of Coagulation Factor VIII (FVIII) concentrate (IU/kg BW/year) in patients with mild and moderate hemophilia A treated at two reference hemophilia center in Brazil (Pará Blood Center and Unicamp Blood Center) Methods: Plasma levels of the von Willebrand factor antigen (FVW:Ag), ristocetin cofactor (FVW:RCo) and FVIII coagulant (FVIII:C) were performed to investigate the correlation between these variables and the ABO immunophenotypes. Results and Discussion: The FVIII consumption (IU/kg BW/year) compared between moderate hemophilia A patients with blood group O and non-O demonstrated increased FVIII consumption among the patients with blood group non-O (p=0.018). In the analysis of this group, plasma levels of FVW:RCo were statistically higher (p=0.045) in comparison to moderate hemophilia A patients with blood group O. Conclusion: Based on the present findings, the ABO blood group is not only a possible indicator for FVIII pharmacokinetics, but also can influence the moderate hemophilia A bleeding phenotype.
References
Albánez, S., Ogiwara, K., Michels, A., Hopman, W., Grabell, J., James, P., & Lillicrap, D. (2016). Aging and ABO blood type influence von Willebrand factor and factor VIII levels through interrelated mechanisms. Journal of thrombosis and haemostasis : JTH, 14(5), 953–963. https://doi.org/10.1111/jth.13294
Ayres, M., Ayres-Junior, F. L., & Ayres, D. L. (2007). BioEstat 5.0: Aplicações estatísticas nas áreas das ciências biológicas e médicas (5ª ed.). Belém: Sociedade Civil Mamirauá.
Bowen D. J. (2003). An influence of ABO blood group on the rate of proteolysis of von Willebrand factor by ADAMTS13. Journal of thrombosis and haemostasis : JTH, 1(1), 33–40. https://doi.org/10.1046/j.1538-7836.2003.00007.x
Carcao, M. D., van den Berg, H. M., Ljung, R., Mancuso, M. E., & PedNet and the Rodin Study Group (2013). Correlation between phenotype and genotype in a large unselected cohort of children with severe hemophilia A. Blood, 121(19), 3946–S1. https://doi.org/10.1182/blood-2012-11-469403
d'Oiron, R., Pipe, S. W., & Jacquemin, M. (2008). Mild/moderate haemophilia A: new insights into molecular mechanisms and inhibitor development. Haemophilia : the official journal of the World Federation of Hemophilia, 14 Suppl 3, 138–146. https://doi.org/10.1111/j.1365-2516.2008.01730.x
Federici, A. B., Elder, J. H., De Marco, L., Ruggeri, Z. M., & Zimmerman, T. S. (1984). Carbohydrate moiety of von Willebrand factor is not necessary for maintaining multimeric structure and ristocetin cofactor activity but protects from proteolytic degradation. The Journal of clinical investigation, 74(6), 2049–2055. https://doi.org/10.1172/JCI111628
Fijnvandraat, K., Peters, M., & ten Cate, J. W. (1995). Inter-individual variation in half-life of infused recombinant factor VIII is related to pre-infusion von Willebrand factor antigen levels. British journal of haematology, 91(2), 474–476. https://doi.org/10.1111/j.1365-2141.1995.tb05325.x
Fischer, K., Pendu, R., van Schooten, C. J., van Dijk, K., Denis, C. V., van den Berg, H. M., & Lenting, P. J. (2009). Models for prediction of factor VIII half-life in severe haemophiliacs: distinct approaches for blood group O and non-O patients. PloS one, 4(8), e6745. https://doi.org/10.1371/journal.pone.0006745
Franchini, M., Mengoli, C., Marano, G., Pupella, S., Mannucci, P. M., & Liumbruno, G. M. (2018). The importance of ABO blood group in pharmacokinetic studies in haemophilia A. Haemophilia : the official journal of the World Federation of Hemophilia, 24(3), e122–e123. https://doi.org/10.1111/hae.13437
Gallinaro, L., Cattini, M. G., Sztukowska, M., Padrini, R., Sartorello, F., Pontara, E., Bertomoro, A., Daidone, V., Pagnan, A., & Casonato, A. (2008). A shorter von Willebrand factor survival in O blood group subjects explains how ABO determinants influence plasma von Willebrand factor. Blood, 111(7), 3540–3545. https://doi.org/10.1182/blood-2007-11-122945
Garcia-Martínez, I., Borràs, N., Martorell, M., Parra, R., Altisent, C., Ramírez, L., Álvarez-Román, M. T., Nuñez, R., Megias-Vericat, J. E., Corrales, I., Alonso, S., & Vidal, F. (2020). Common Genetic Variants in ABO and CLEC4M Modulate the Pharmacokinetics of Recombinant FVIII in Severe Hemophilia A Patients. Thrombosis and haemostasis, 120(10), 1395–1406. https://doi.org/10.1055/s-0040-1714214
Gill, J. C., Endres-Brooks, J., Bauer, P. J., Marks, W. J., Jr, & Montgomery, R. R. (1987). The effect of ABO blood group on the diagnosis of von Willebrand disease. Blood, 69(6), 1691–1695.
Greenwell P. (1997). Blood group antigens: molecules seeking a function?. Glycoconjugate journal, 14(2), 159–173. https://doi.org/10.1023/a:1018581503164
Jacquemin, M., De Maeyer, M., D'Oiron, R., Lavend'Homme, R., Peerlinck, K., & Saint-Remy, J. M. (2003). Molecular mechanisms of mild and moderate hemophilia A. Journal of thrombosis and haemostasis : JTH, 1(3), 456–463. https://doi.org/10.1046/j.1538-7836.2003.00088.x
Kano, T., Kondo, K., Hamako, J., Matsushita, F., Sakai, K., & Matsui, T. (2018). Effects of plasma glycosyltransferase on the ABO(H) blood group antigens of human von Willebrand factor. International journal of hematology, 108(2), 139–144. https://doi.org/10.1007/s12185-018-2452-0
Kaufman R. J. (1998). Post-translational modifications required for coagulation factor secretion and function. Thrombosis and haemostasis, 79(6), 1068–1079.
Lenting, P. J., VAN Schooten, C. J., & Denis, C. V. (2007). Clearance mechanisms of von Willebrand factor and factor VIII. Journal of thrombosis and haemostasis : JTH, 5(7), 1353–1360. https://doi.org/10.1111/j.1538-7836.2007.02572.x
Lenting, P. J., van Mourik, J. A., & Mertens, K. (1998). The life cycle of coagulation factor VIII in view of its structure and function. Blood, 92(11), 3983–3996.
Lillicrap D. (2008). Extending half-life in coagulation factors: where do we stand?. Thrombosis research, 122 Suppl 4, S2–S8. https://doi.org/10.1016/S0049-3848(08)70027-6
Liumbruno, G. M., & Franchini, M. (2013). Beyond immunohaematology: the role of the ABO blood group in human diseases. Blood transfusion = Trasfusione del sangue, 11(4), 491–499. https://doi.org/10.2450/2013.0152-13
Lunghi, B., Morfini, M., Martinelli, N., Linari, S., Castaman, G., & Bernardi, F. (2022). Combination of CLEC4M rs868875 G-Carriership and ABO O Genotypes May Predict Faster Decay of FVIII Infused in Hemophilia A Patients. Journal of clinical medicine, 11(3), 733. https://doi.org/10.3390/jcm11030733
Miller, C. H., Haff, E., Platt, S. J., Rawlins, P., Drews, C. D., Dilley, A. B., & Evatt, B. (2003). Measurement of von Willebrand factor activity: relative effects of ABO blood type and race. Journal of thrombosis and haemostasis : JTH, 1(10), 2191–2197. https://doi.org/10.1046/j.1538-7836.2003.00367.x
O'Donnell, J., & Laffan, M. A. (2001). The relationship between ABO histo-blood group, factor VIII and von Willebrand factor. Transfusion medicine (Oxford, England), 11(4), 343–351. https://doi.org/10.1046/j.1365-3148.2001.00315.x
Orstavik, K. H., Magnus, P., Reisner, H., Berg, K., Graham, J. B., & Nance, W. (1985). Factor VIII and factor IX in a twin population. Evidence for a major effect of ABO locus on factor VIII level. American journal of human genetics, 37(1), 89–101.
Preston, A. E., & Barr, A. (1964). The plasma concentration of factor VIII in the normal population. II. The effects of age, sex and blood group. British Journal of Haematology, 10, 238–245. https://doi.org/10.1111/j.1365-2141.1964.tb00698.x
Sodetz, J. M., Paulson, J. C., & McKee, P. A. (1979). Carbohydrate composition and identification of blood group A, B, and H oligosaccharide structures on human Factor VIII/von Willebrand factor. The Journal of biological chemistry, 254(21), 10754–10760.
Souto, J. C., Almasy, L., Muñiz-Diaz, E., Soria, J. M., Borrell, M., Bayén, L., Mateo, J., Madoz, P., Stone, W., Blangero, J., & Fontcuberta, J. (2000). Functional effects of the ABO locus polymorphism on plasma levels of von Willebrand factor, factor VIII, and activated partial thromboplastin time. Arteriosclerosis, thrombosis, and vascular biology, 20(8), 2024–2028. https://doi.org/10.1161/01.atv.20.8.2024
Swystun, L. L., Ogiwara, K., Rawley, O., Brown, C., Georgescu, I., Hopman, W., Labarque, V., Male, C., Thom, K., Blanchette, V. S., Carcao, M. D., & Lillicrap, D. (2019). Genetic determinants of VWF clearance and FVIII binding modify FVIII pharmacokinetics in pediatric hemophilia A patients. Blood, 134(11), 880–891. https://doi.org/10.1182/blood.2019000190
Toassi, R. S. C. & Petry, P. C. (2021). Metodologia científica aplicada a área de saúde. Ed. UFRGS.
van Dijk, K., van der Bom, J. G., Lenting, P. J., de Groot, P. G., Mauser-Bunschoten, E. P., Roosendaal, G., Grobbee, D. E., & van den Berg, H. M. (2005). Factor VIII half-life and clinical phenotype of severe hemophilia A. Haematologica, 90(4), 494–498.
Vlot, A. J., Mauser-Bunschoten, E. P., Zarkova, A. G., Haan, E., Kruitwagen, C. L., Sixma, J. J., & van den Berg, H. M. (2000). The half-life of infused factor VIII is shorter in hemophiliac patients with blood group O than in those with blood group A. Thrombosis and haemostasis, 83(1), 65–69.
Downloads
Published
How to Cite
Issue
Section
License
Copyright (c) 2024 Magaly do Bom Parto Lopes Vieira Lima; Lúcia Helena de Siqueira; Silmara Aparecida de Lima Montalvão; Thaís Helena Trento Lorenzetti; Aldemir Branco de Oliveira Filho; Sergio Henrique Ferreira; Leiliane Souza da Silva; Margareth Castro Ozelo; José Alexandre Rodrigues de Lemos
This work is licensed under a Creative Commons Attribution 4.0 International License.
Authors who publish with this journal agree to the following terms:
1) Authors retain copyright and grant the journal right of first publication with the work simultaneously licensed under a Creative Commons Attribution License that allows others to share the work with an acknowledgement of the work's authorship and initial publication in this journal.
2) Authors are able to enter into separate, additional contractual arrangements for the non-exclusive distribution of the journal's published version of the work (e.g., post it to an institutional repository or publish it in a book), with an acknowledgement of its initial publication in this journal.
3) Authors are permitted and encouraged to post their work online (e.g., in institutional repositories or on their website) prior to and during the submission process, as it can lead to productive exchanges, as well as earlier and greater citation of published work.