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Page 1
The Molecular Basis of FIX Deficiency in Hemophilia B.
Shen G, Gao M, Cao Q, Li W. Shen G, et al. Int J Mol Sci. 2022 Mar 2;23(5):2762. doi: 10.3390/ijms23052762. Int J Mol Sci. 2022. PMID: 35269902 Free PMC article. Review.
Deletions, insertions, duplications, and indels generally lead to severe hemophilia B. Those in the exon regions generate either frame shift or inframe mutations, and those in the introns usually cause aberrant splicing. ...Nonsense mutations generate truncat …
Deletions, insertions, duplications, and indels generally lead to severe hemophilia B. Those in the exon regions genera …
Molecular analysis of severe hemophilia B in Indian families: Identification of mutational hotspot and novel variants.
Agrawal N, Kumar R, Masih S, Srivastava P, Singh P, Jaiswal SK, Moirangthem A, Saxena D, Phadke SR, Mandal K. Agrawal N, et al. Int J Lab Hematol. 2022 Feb;44(1):186-192. doi: 10.1111/ijlh.13715. Epub 2021 Sep 29. Int J Lab Hematol. 2022. PMID: 34590426
METHOD: DNA was extracted from peripheral blood samples of 35 diagnosed severe hemophilia B patients belonging to 32 families, and were subjected to Sanger sequencing. ...CONCLUSIONS: This study provides a comprehensive mutational spectrum and mutation screen …
METHOD: DNA was extracted from peripheral blood samples of 35 diagnosed severe hemophilia B patients belonging to 32 fa …
Pharmacodynamics of eftrenonacog-alfa (rFIX-Fc) in severe hemophilia B patients: A real-life study.
Atsou S, Furlan F, Duchemin J, Ellouze S, Sourdeau É, Launois A, Roussel-Robert V, Stieltjes N, Combe S, Fontenay M, Curis E, Jourdi G. Atsou S, et al. Eur J Pharmacol. 2021 Jan 15;891:173764. doi: 10.1016/j.ejphar.2020.173764. Epub 2020 Nov 27. Eur J Pharmacol. 2021. PMID: 33249076
We aimed to assess its pharmacodynamics (PD) in real-life setting via FIX activity measurement and thrombin generation assay (TGA). Sixty samples from 15 severe hemophilia B treated patients were collected at different time points. ...Following FIX activity p …
We aimed to assess its pharmacodynamics (PD) in real-life setting via FIX activity measurement and thrombin generation assay (TGA). Sixty sa …
Invisible bleeds: Lived experiences and barriers to care for men with hemophilia.
Arya S, Siad FM, Wilton P, Page D, Boma-Fischer L, Floros G, Winikoff R, Teitel J, Sholzberg M. Arya S, et al. J Thromb Haemost. 2022 Feb;20(2):296-306. doi: 10.1111/jth.15570. Epub 2021 Nov 8. J Thromb Haemost. 2022. PMID: 34689399 Free article.
Median age was 39 years old (29-73 years old), and diagnoses included severe hemophilia A (n = 5), mild hemophilia A (n = 2), and severe hemophilia B (n = 4). Three primary themes arose: (1) impact on identity and daily life; (2) dynamic changes in treatment; …
Median age was 39 years old (29-73 years old), and diagnoses included severe hemophilia A (n = 5), mild hemophilia A (n = 2), and severe …
The cost-effectiveness of gene therapy for severe hemophilia B: a microsimulation study from the United States perspective.
Bolous NS, Chen Y, Wang H, Davidoff AM, Devidas M, Jacobs TW, Meagher MM, Nathwani AC, Neufeld EJ, Piras BA, Rodriguez-Galindo C, Reiss UM, Bhakta N. Bolous NS, et al. Blood. 2021 Nov 4;138(18):1677-1690. doi: 10.1182/blood.2021010864. Blood. 2021. PMID: 33895800 Free article.
This study compared the potential cost-effectiveness of AAV-mediated factor IX (FIX)-Padua gene therapy for patients with severe hemophilia B in the United States vs on-demand FIX replacement and primary FIX prophylaxis, using either standard or extended half …
This study compared the potential cost-effectiveness of AAV-mediated factor IX (FIX)-Padua gene therapy for patients with severe h …
Costs and utilization of treatment in patients with hemophilia.
Rocha P, Carvalho M, Lopes M, Araújo F. Rocha P, et al. BMC Health Serv Res. 2015 Oct 26;15:484. doi: 10.1186/s12913-015-1134-3. BMC Health Serv Res. 2015. PMID: 26502954 Free PMC article.
The total mean aggregate cost per year (including clotting factor and hospital utilization) for patients with severe hemophilia B was 112,469, compared with 793 for mild hemophilia A. ...
The total mean aggregate cost per year (including clotting factor and hospital utilization) for patients with severe hemophilia …
Safety, pharmacokinetics, and pharmacodynamics of a next-generation subcutaneously administered coagulation factor IX variant, dalcinonacog alfa, in previously treated hemophilia B patients.
You CW, Hong SB, Kim S, Shin HJ, Kim JS, Han JW, Kim SJ, Kim DY, Lee M, Levy H. You CW, et al. J Thromb Haemost. 2021 Apr;19(4):967-975. doi: 10.1111/jth.15259. Epub 2021 Mar 24. J Thromb Haemost. 2021. PMID: 33540485 Free article. Clinical Trial.
METHODS: This multicenter, phase 1/2a study (NCT03186677) was conducted in 11 males aged 12 to 65 years with severe hemophilia B. In cohort 1, subjects received intravenous (IV) 75 IU/kg BeneFIX and DalcA. ...
METHODS: This multicenter, phase 1/2a study (NCT03186677) was conducted in 11 males aged 12 to 65 years with severe hemophilia …
Factor IX inhibitors and anaphylaxis in hemophilia B.
Warrier I, Ewenstein BM, Koerper MA, Shapiro A, Key N, DiMichele D, Miller RT, Pasi J, Rivard GE, Sommer SS, Katz J, Bergmann F, Ljung R, Petrini P, Lusher JM. Warrier I, et al. J Pediatr Hematol Oncol. 1997 Jan-Feb;19(1):23-7. doi: 10.1097/00043426-199701000-00003. J Pediatr Hematol Oncol. 1997. PMID: 9065715
FIX gene analysis was performed at one of six molecular genetics institutes. RESULTS: All 18 children had severe hemophilia B, and in each an inhibitor antibody to FIX developed. ...
FIX gene analysis was performed at one of six molecular genetics institutes. RESULTS: All 18 children had severe hemophilia …
Reliability and validity of patient-reported outcome instruments in US adults with hemophilia B and caregivers in the B-HERO-S study.
Buckner TW, Sidonio R Jr, Guelcher C, Kessler CM, Witkop M, Clark D, Owens W, Fridman M, Iyer NN, Cooper DL. Buckner TW, et al. Eur J Haematol. 2018 Dec;101(6):781-790. doi: 10.1111/ejh.13168. Epub 2018 Oct 19. Eur J Haematol. 2018. PMID: 30179272
OBJECTIVE: To assess the reliability and validity of six patient-reported outcomes (PRO) instruments for evaluating health-related quality of life in adults with mild-severe hemophilia B and caregivers of children with hemophilia B, including affected women/g …
OBJECTIVE: To assess the reliability and validity of six patient-reported outcomes (PRO) instruments for evaluating health-related quality o …
34 results