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Page 1
Functional determination of emicizumab in presence of factor VIII activity.
Hamedani NS, Donners AAMT, van Luin M, Gasper S, Rühl H, Klein C, Albert T, El Amrani M, Pötzsch B, Oldenburg J, Müller J. Hamedani NS, et al. J Thromb Haemost. 2023 Dec;21(12):3490-3500. doi: 10.1016/j.jtha.2023.09.011. Epub 2023 Sep 21. J Thromb Haemost. 2023. PMID: 37741510
BACKGROUND: Accurate measurement of emicizumab in the presence of factor (F) VIII is required in patients with severe hemophilia A treated with emicizumab, as well as additional need for FVIII substitution or emicizumab prophylaxis in patients with acquired or moderate to mild …
BACKGROUND: Accurate measurement of emicizumab in the presence of factor (F) VIII is required in patients with severe hemophilia A treated w …
The molecular basis of hemophilia A: genotype-phenotype relationships and inhibitor development.
Goodeve AC, Peake IR. Goodeve AC, et al. Semin Thromb Hemost. 2003 Feb;29(1):23-30. doi: 10.1055/s-2003-37936. Semin Thromb Hemost. 2003. PMID: 12640561 Review.
This correlation is demonstrated, and a potential algorithm for predicting inhibitor development in newly diagnosed patients is presented. Many patients with mild hemophilia A have a discrepancy between the levels of FVIII:C determined by the one-stage …
This correlation is demonstrated, and a potential algorithm for predicting inhibitor development in newly diagnosed patients is prese …
The bleeding phenotype in people with nonsevere hemophilia.
Kloosterman FR, Zwagemaker AF, Bagot CN, Beckers EAM, Castaman G, Cnossen MH, Collins PW, Hay C, Hof M, Laros-van Gorkom B, Leebeek FWG, Male C, Meijer K, Pabinger I, Shapiro S, Coppens M, Fijnvandraat K, Gouw SC. Kloosterman FR, et al. Blood Adv. 2022 Jul 26;6(14):4256-4265. doi: 10.1182/bloodadvances.2022007620. Blood Adv. 2022. PMID: 35533261 Free PMC article.
In the DYNAMO (Dynamic Interplay Between Bleeding Phenotype and Baseline Factor Level in Moderate and Mild Hemophilia A and B) study, an international multicenter cohort, we included males with nonsevere hemophilia (FVIII/IX, 0.02-0.35 IU/mL) aged 12 to 55 ye …
In the DYNAMO (Dynamic Interplay Between Bleeding Phenotype and Baseline Factor Level in Moderate and Mild Hemophilia A …
Molecular and clinical predictors of inhibitor risk and its prevention and treatment in mild hemophilia A.
Castaman G, Fijnvandraat K. Castaman G, et al. Blood. 2014 Oct 9;124(15):2333-6. doi: 10.1182/blood-2014-02-546127. Epub 2014 Aug 18. Blood. 2014. PMID: 25139352 Free PMC article. Review.
The risk for inhibitor development in mild hemophilia A (factor VIII levels between 5 and 40 U/dL) is larger than previously anticipated, continues throughout life, and is particularly associated with certain mutations in F8. Desmopressin may reduce inhibitor …
The risk for inhibitor development in mild hemophilia A (factor VIII levels between 5 and 40 U/dL) is larger than previ …
Reccurrent F8 Intronic Deletion Found in Mild Hemophilia A Causes Alu Exonization.
Jourdy Y, Janin A, Fretigny M, Lienhart A, Négrier C, Bozon D, Vinciguerra C. Jourdy Y, et al. Am J Hum Genet. 2018 Feb 1;102(2):199-206. doi: 10.1016/j.ajhg.2017.12.010. Epub 2018 Jan 18. Am J Hum Genet. 2018. PMID: 29357978 Free PMC article.
We identified an intronic deletion, c.2113+461_2113+473del, in the F8 intron 13, in two individuals with mild hemophilia A. In vivo and in vitro transcript analysis found an aberrant transcript, with an insertion of a 122-bp intronic fragment (c.2113_2114ins2 …
We identified an intronic deletion, c.2113+461_2113+473del, in the F8 intron 13, in two individuals with mild hemophilia A …
Moderate-intensity aerobic exercise vs desmopressin in adolescent males with mild hemophilia A: a randomized trial.
Kumar R, Dunn AL, Schneiderman JE, Gonzales A, Bouskill V, Widener P, Stanek J, Pluthero FG, Waller A, Tarango C, Ahuja S, Kerlin BA, Kahr WHA, Rand ML, Lillicrap D, Carcao M. Kumar R, et al. Blood. 2022 Sep 8;140(10):1156-1166. doi: 10.1182/blood.2022016146. Blood. 2022. PMID: 35839450 Free article. Clinical Trial.
Persons with mild hemophilia A (HA) may use intranasal desmopressin prior to sports participation. ...Participants randomized to exercise cycled on an ergometer for approximately 12 minutes, with the final 3 minutes at 85% of their predicted maximum he …
Persons with mild hemophilia A (HA) may use intranasal desmopressin prior to sports participation. ...Participants rand …
Deep intronic variations may cause mild hemophilia A.
Castaman G, Giacomelli SH, Mancuso ME, D'Andrea G, Santacroce R, Sanna S, Santagostino E, Mannucci PM, Goodeve A, Rodeghiero F. Castaman G, et al. J Thromb Haemost. 2011 Aug;9(8):1541-8. doi: 10.1111/j.1538-7836.2011.04408.x. J Thromb Haemost. 2011. PMID: 21689372 Free article.
BACKGROUND: In about 10% of patients with mild hemophilia A, no candidate gene mutations are apparent after complete gene sequencing. AIM OF THE STUDY: To analyze factor VIII gene (F8) mRNA for mutations in five families with mild hemophilia …
BACKGROUND: In about 10% of patients with mild hemophilia A, no candidate gene mutations are apparent after complete ge …
The Italian AICE-Genetics hemophilia A database: results and correlation with clinical phenotype.
Margaglione M, Castaman G, Morfini M, Rocino A, Santagostino E, Tagariello G, Tagliaferri AR, Zanon E, Bicocchi MP, Castaldo G, Peyvandi F, Santacroce R, Torricelli F, Grandone E, Mannucci PM; AICE-Genetics Study Group. Margaglione M, et al. Haematologica. 2008 May;93(5):722-8. doi: 10.3324/haematol.12427. Epub 2008 Apr 2. Haematologica. 2008. PMID: 18387975 Free article.
RESULTS: F8 mutations were identified in 874 (89%), 146 (89%), and 133 (94%) families with severe, moderate, or mild hemophilia A, respectively. Mutations predicting a null allele were responsible for 80%, 15%, and less than 1% of cases of severe, mode …
RESULTS: F8 mutations were identified in 874 (89%), 146 (89%), and 133 (94%) families with severe, moderate, or mild hemophilia …
Little discrepancy between one-stage and chromogenic factor VIII (FVIII)/IX assays in a large international cohort of persons with nonsevere hemophilia A and B.
Zwagemaker AF, Kloosterman FR, Gouw SC, Boyce S, Brons P, Cnossen MH, Collins PW, Eikenboom J, Hay C, Hengeveld RCC, Jackson S, Klopper-Tol CAM, Kruip MJHA, Gorkom BL, Male C, Nieuwenhuizen L, Shapiro S, Fijnvandraat K, Coppens M; DYNAMO study group. Zwagemaker AF, et al. J Thromb Haemost. 2023 Apr;21(4):850-861. doi: 10.1016/j.jtha.2022.11.040. Epub 2022 Dec 22. J Thromb Haemost. 2023. PMID: 36696222 Free article.
OBJECTIVES: To investigate the extent of factor VIII/IX one-stage and chromogenic assay discrepancy in moderate and mild hemophilia A and B. METHODS: Persons with previously diagnosed nonsevere hemophilia A and B with a factor level of 2 to 35 IU/dL were incl …
OBJECTIVES: To investigate the extent of factor VIII/IX one-stage and chromogenic assay discrepancy in moderate and mild hemophili …
40 results