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One-stage and chromogenic FVIII:C assay discrepancy in mild haemophilia A and the relationship with the mutation and bleeding phenotype.
Haemophilia. 2008 Sep; 14(5):1049-54.H

Abstract

The discrepancy of the levels of factor VIII activity (FVIII:C) by different assays in some mild and moderate haemophilic A patients has been long known. Specific mutations affecting FVIII:C discrepancies have been described. No consensus exit as to which method most accurately represents the FVIII cofactor function in vivo and which has a better correlation with the haemorrhagic clinical expression. We studied 163 mild A haemophiliacs, and detected discrepancies in 20% of the patients, most of whom presented higher levels of FVIII:C with the one-stage assay. In nine families, the FVIII mutation was found, while three showed mutations not previously described (Leu1978Phe and Ser1791Pro associated with higher levels of FVIII:C by one-stage method; Arg1639His in a patient with low level of FVIII:C by the one-stage, but normal, chromogenic assay). Assessing the level of FVIII:C by different methods could help to learn the possible haemorrhagic expressions of patients.

Authors+Show Affiliations

Congenital Coagulopathies Unit, La Fe University Hospital, Valencia, Spain. cid_ana@gva.esNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

18540892

Citation

Cid, A R., et al. "One-stage and Chromogenic FVIII:C Assay Discrepancy in Mild Haemophilia a and the Relationship With the Mutation and Bleeding Phenotype." Haemophilia : the Official Journal of the World Federation of Hemophilia, vol. 14, no. 5, 2008, pp. 1049-54.
Cid AR, Calabuig M, Cortina V, et al. One-stage and chromogenic FVIII:C assay discrepancy in mild haemophilia A and the relationship with the mutation and bleeding phenotype. Haemophilia. 2008;14(5):1049-54.
Cid, A. R., Calabuig, M., Cortina, V., Casaña, P., Haya, S., Moret, A., Cabrera, N., & Aznar, J. A. (2008). One-stage and chromogenic FVIII:C assay discrepancy in mild haemophilia A and the relationship with the mutation and bleeding phenotype. Haemophilia : the Official Journal of the World Federation of Hemophilia, 14(5), 1049-54. https://doi.org/10.1111/j.1365-2516.2008.01781.x
Cid AR, et al. One-stage and Chromogenic FVIII:C Assay Discrepancy in Mild Haemophilia a and the Relationship With the Mutation and Bleeding Phenotype. Haemophilia. 2008;14(5):1049-54. PubMed PMID: 18540892.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - One-stage and chromogenic FVIII:C assay discrepancy in mild haemophilia A and the relationship with the mutation and bleeding phenotype. AU - Cid,A R, AU - Calabuig,M, AU - Cortina,V, AU - Casaña,P, AU - Haya,S, AU - Moret,A, AU - Cabrera,N, AU - Aznar,J A, Y1 - 2008/06/05/ PY - 2008/6/11/pubmed PY - 2008/12/17/medline PY - 2008/6/11/entrez SP - 1049 EP - 54 JF - Haemophilia : the official journal of the World Federation of Hemophilia JO - Haemophilia VL - 14 IS - 5 N2 - The discrepancy of the levels of factor VIII activity (FVIII:C) by different assays in some mild and moderate haemophilic A patients has been long known. Specific mutations affecting FVIII:C discrepancies have been described. No consensus exit as to which method most accurately represents the FVIII cofactor function in vivo and which has a better correlation with the haemorrhagic clinical expression. We studied 163 mild A haemophiliacs, and detected discrepancies in 20% of the patients, most of whom presented higher levels of FVIII:C with the one-stage assay. In nine families, the FVIII mutation was found, while three showed mutations not previously described (Leu1978Phe and Ser1791Pro associated with higher levels of FVIII:C by one-stage method; Arg1639His in a patient with low level of FVIII:C by the one-stage, but normal, chromogenic assay). Assessing the level of FVIII:C by different methods could help to learn the possible haemorrhagic expressions of patients. SN - 1365-2516 UR - https://www.unboundmedicine.com/medline/citation/18540892/One_stage_and_chromogenic_FVIII:C_assay_discrepancy_in_mild_haemophilia_A_and_the_relationship_with_the_mutation_and_bleeding_phenotype_ L2 - https://doi.org/10.1111/j.1365-2516.2008.01781.x DB - PRIME DP - Unbound Medicine ER -