Tags

Type your tag names separated by a space and hit enter

Normalization of factor VIII levels in a patient with mild haemophilia A during a 35-year period.
Haemophilia. 2006 Nov; 12(6):668-71.H

Abstract

We report the case of a 45-year-old man who was diagnosed in June 1969 9 years old as having mild haemophilia A following a traumatic left shoulder bleed when his factor VIII (FVIII) activity was 11 IU dL(-1) based on a two-stage assay. The bleed resolved following treatment with intravenous cryoprecipitate. There was no family history of haemophilia. Cryoprecipitate infusions were required to treat further traumatic bleeds between 1971 and 1981. During this time, his FVIII activity was confirmed at 14 IU dL(-1). He defaulted many hospital appointments until 1991 when his FVIII activity had risen to 42 IU dL(-1). There was no evidence of infection, inflammatory or liver disease to account for this change. By 2005 he had a normal FVIII activity of 62 IU dL(-1) based on a one-stage assay. FVIII gene analysis confirmed a codon 531 mutation. It appeared that the discrepant FVIII results related to whether a two-stage or one-stage assay was used that has been previously reported for other patients with these mutations. We felt it important to raise awareness that this phenomenon may lead to apparent correction of haemophilia A.

Authors+Show Affiliations

Department of Haematology, North Hampshire Hospital, Basingstoke, UK. cjmainwaring@tiscali.co.ukNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

17083519

Citation

Mainwaring, C J., et al. "Normalization of Factor VIII Levels in a Patient With Mild Haemophilia a During a 35-year Period." Haemophilia : the Official Journal of the World Federation of Hemophilia, vol. 12, no. 6, 2006, pp. 668-71.
Mainwaring CJ, Evans J, Chana J, et al. Normalization of factor VIII levels in a patient with mild haemophilia A during a 35-year period. Haemophilia. 2006;12(6):668-71.
Mainwaring, C. J., Evans, J., Chana, J., & Lewis, H. (2006). Normalization of factor VIII levels in a patient with mild haemophilia A during a 35-year period. Haemophilia : the Official Journal of the World Federation of Hemophilia, 12(6), 668-71.
Mainwaring CJ, et al. Normalization of Factor VIII Levels in a Patient With Mild Haemophilia a During a 35-year Period. Haemophilia. 2006;12(6):668-71. PubMed PMID: 17083519.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Normalization of factor VIII levels in a patient with mild haemophilia A during a 35-year period. AU - Mainwaring,C J, AU - Evans,J, AU - Chana,J, AU - Lewis,H, PY - 2006/11/7/pubmed PY - 2007/5/30/medline PY - 2006/11/7/entrez SP - 668 EP - 71 JF - Haemophilia : the official journal of the World Federation of Hemophilia JO - Haemophilia VL - 12 IS - 6 N2 - We report the case of a 45-year-old man who was diagnosed in June 1969 9 years old as having mild haemophilia A following a traumatic left shoulder bleed when his factor VIII (FVIII) activity was 11 IU dL(-1) based on a two-stage assay. The bleed resolved following treatment with intravenous cryoprecipitate. There was no family history of haemophilia. Cryoprecipitate infusions were required to treat further traumatic bleeds between 1971 and 1981. During this time, his FVIII activity was confirmed at 14 IU dL(-1). He defaulted many hospital appointments until 1991 when his FVIII activity had risen to 42 IU dL(-1). There was no evidence of infection, inflammatory or liver disease to account for this change. By 2005 he had a normal FVIII activity of 62 IU dL(-1) based on a one-stage assay. FVIII gene analysis confirmed a codon 531 mutation. It appeared that the discrepant FVIII results related to whether a two-stage or one-stage assay was used that has been previously reported for other patients with these mutations. We felt it important to raise awareness that this phenomenon may lead to apparent correction of haemophilia A. SN - 1351-8216 UR - https://www.unboundmedicine.com/medline/citation/17083519/Normalization_of_factor_VIII_levels_in_a_patient_with_mild_haemophilia_A_during_a_35_year_period_ L2 - https://doi.org/10.1111/j.1365-2516.2006.01353.x DB - PRIME DP - Unbound Medicine ER -