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ORIGINAL RESEARCH

Multicenter Study of Diagnostic Tool for Patients with Hemophilia: From Bedside to Comprehensive Investigations

ORCID Icon, , ORCID Icon, , , , & show all
Pages 215-223 | Received 08 Aug 2023, Accepted 05 Nov 2023, Published online: 30 Nov 2023

References

  • Iorio A, Stonebraker JS, Chambost H, et al. Establishing the prevalence and prevalence at birth of hemophilia in males: a meta-analytic approach using national registry. Ann Intern Med. 2019;17(8):540–546. doi:10.7326/M19-1208
  • Mårtensson A, Ivarsson S, Letelier A, Manderstedt E, Halldén C, Ljung R. Origin of mutation in sporadic cases of severe haemophilia A in Sweden. Clin Genet. 2016;90(1):63–68. doi:10.1111/cge.12709
  • Lu Y, Xin Y, Dai J, et al. Spectrum and origin of mutations in sporadic cases of haemophilia A in China. Haemophilia. 2018;24(2):291–298. doi:10.1111/hae.13402
  • Sasanakul W, Chuansumrit A, Sirachainan N, Kadegasem P. Prominent mutation of intron 22 inversion in sporadic hemophilia: is it worth the antenatal screening? Appl Clin Genet. 2022;19(15):49–54. doi:10.2147/TACG.S363132
  • Evatt BL. Demographics of hemophilia in developing countries. Semin Thromb Hemost. 2005;31(5):489–494. doi:10.1055/s-2005-922218
  • Chuansumrit A, Pongtanakul B, Kadegasem P, et al. Accurate bedside diagnostic kit for determining haemophilia A and B. Haemophilia. 2009;15(1):361–364. doi:10.1111/j.1365-2516.2008.01783.x
  • Sasanakul W, Kadegasem P, Chaiyaratana W, Wongwerawattanakoon P, Sirachainan N, Chuansumrit A. Simple and accurate bedside diagnostic kit for determining haemophilia A and B: a revised version. Haemophilia. 2013;19(1):e48–e49. doi:10.1111/hae.12047
  • Blanchette VS, Key NS, Ljung LR, Manco-Johnson MJ, van den Berg HM, Srivastava A; Subcommittee on Factor VIII, Factor IX and Rare Coagulation Disorders of the Scientific and Standardization Committee of the International Society on Thrombosis and Hemostasis. Definitions in hemophilia: communication from the SSC of the ISTH. J Thromb Haemost. 2014;12(11):1935–1939. doi:10.1111/jth.12672
  • Rodeghiero F, Tosetto A, Abshire T, et al. ISTH/SSC bleeding assessment tool: a standardized questionnaire and a proposal for a new bleeding score for inherited bleeding disorders. J Thromb Haemost. 2010;8(9):2063–2065. doi:10.1111/j.1538-7836.2010.03975.x
  • Rydz N, James PD. The evolution and value of bleeding assessment tools. J Thromb Haemost. 2012;10(11):2223–2229. doi:10.1111/j.1538-7836.2012.04923.x
  • Hardisty RM, Macpherson JC. A one-stage factor VIII (antihaemophilic globulin) assay and its use on venous and capillary plasma. Thromb Diath Haemorrh. 1962;7:215–228.
  • Duncan E, Collecutt M, Street A. Nijmegen-Bethesda assay to measure factor VIII inhibitors. Methods Mol Biol. 2013;992:321–333. doi:10.1007/978-1-62703-339-8_24
  • Sasanakul W, Chuansumrit A, Kadegasem P, Hathirat P. A comparison of DNA extraction between conventional phenol-chloroform and in-house modified method. Rama Med J. 1997;20:119–124.
  • Rossetti LC, Radic CP, Larripa IB, De Brasi CD. Developing a new generation of tests for genotyping hemophilia-causative rearrangements involving int22h and int1h hotspots in the factor VIII gene. J Thromb Haemost. 2008;6(5):830–836. doi:10.1111/j.1538-7836.2008.02926.x
  • Sanger F, Nicklen S, Coulson AR. DNA sequencing with chain-terminating inhibitors. Proc Natl Acad Sci USA. 1977;74(12):5463–5467. doi:10.1073/pnas.74.12.5463
  • Krooss S, Werwitzke S, Kopp J, et al. Pathological mechanism and antisense oligonucleotide-mediated rescue of a non-coding variant suppressing factor 9 RNA biogenesis leading to hemophilia B. PLoS Genet. 2020;16(4):e1008690. doi:10.1371/journal.pgen.1008690
  • Pierce GF, Adediran M, Diop S, et al. Achieving access to haemophilia care in low-income and lower-middle-income countries: expanded Humanitarian Aid Program of the World Federation of Hemophilia after 5 years. Lancet Hematol. 2022;9(9):e689–e697. doi:10.1016/S2352-3026(22)00209-5
  • Borhany M, Fatima N, Abid M, Shamsi T, Othman M. Application of the ISTH bleeding score in hemophilia. Transfus Apher Sci. 2018;57(4):556–560. doi:10.1016/j.transci.2018.06.003
  • Sasanakul W, Chuansumrit A, Rurgkhum S, Udomsubpayakul U, Hathirat P. DNA extraction and amplification of 10-day, room-temperature blood samples. J Med Assoc Thai. 1999;82(Suppl 1):S186–S189.
  • Kadegasem P, Rurgkhum S, Sasanakul W, Chuansumrit A. DNA extraction from buffy coat sent by mail without ice. Thai J Hematol Transfus Med. 2001;11:167–171.
  • Kulkarni S, Hegde R, Hegde S, et al. Mutation analysis and characterisation of F9 gene in haemophilia- B population of India. Blood Res. 2021;56(4):252–258. doi:10.5045/br.2021.2021016
  • Andersson NG, Labarque V, Letelier A, et al. Novel F8 and F9 gene variants from the PedNet hemophilia registry classified according to ACMG/AMPes. Hum Mutat. 2020;41(12):2058–2072. doi:10.1002/humu.24117
  • Pezeshkpoor B, Oldenburg J, Pavlova A. Insights into the molecular genetic of hemophilia A and hemophilia B: the relevance of genetic testing in routine clinical practice. Hamostaseologie. 2022;42(6):390–399. doi:10.1055/a-1945-9429
  • Chuansumrit A. Treatment of haemophilia in the developing countries. Haemophilia. 2003;9(4):387–390. doi:10.1046/j.1365-2516.2003.00763.x