title: A cross-sectional study of bleeding phenotype in haemophilia A carriers.
abstract: Haemophilia A carriers have historically been thought to exhibit normal haemostasis. However, recent data demonstrates that, despite normal factor VIII (FVIII), haemophilia A carriers demonstrate an increased bleeding tendency. We tested the hypothesis that obligate haemophilia carriers exhibit an increase in clinically relevant bleeding. A cross-sectional study was performed comparing haemophilia A carriers to normal women. Questionnaire assessment included a general bleeding questionnaire, condensed MCMDM-1VWD bleeding assessment tool and Pictorial Bleeding Assessment Chart (PBAC). Laboratory assessment included complete blood count, prothrombin time, activated partial thromboplastin time, fibrinogen activity, FVIII activity (
  C), von Willebrand factor antigen level, ristocetin cofactor, platelet function analyser-100(TM) and ABO blood type. Forty-four haemophilia A carriers and 43 controls were included. Demographic features were similar. Laboratory results demonstrated a statistically significant difference only in
  C (82·5 vs. 134%, P < 0·001). Carriers reported a higher number of bleeding events, and both condensed MCMDM-1 VWD bleeding scores (5 vs. 1, P < 0·001) and PBAC scores (423 vs. 182·5, P = 0·018) were significantly higher in carriers. Haemophilia A carriers exhibit increased bleeding symptoms when compared to normal women. Further studies are necessary to fully understand the bleeding phenotype in this population and optimize clinical management.
authors.affiliation: Vanderbilt University, Nashville, TN, USA.|Monroe Carell Jr. Children's Hospital at Vanderbilt, Nashville, TN, USA.
authors.forename: Allison
authors.initials: A
authors.lastname: Paroskie
authors.affiliation: Vanderbilt University, Nashville, TN, USA.
authors.forename: Dave
authors.initials: D
authors.lastname: Gailani
authors.affiliation: Monroe Carell Jr. Children's Hospital at Vanderbilt, Nashville, TN, USA.
authors.forename: Michael R
authors.initials: MR
authors.lastname: DeBaun
authors.affiliation: Children's Healthcare of Atlanta, Emory University, Atlanta, GA, USA.
authors.forename: Robert F
authors.initials: RF
authors.lastname: Sidonio
mesh_terms: D000328:Adult; D001777:Blood Coagulation; D001780:Blood Coagulation Tests; D016022:Case-Control Studies; D003430:Cross-Sectional Studies; D005260:Female; D006467:Hemophilia A / Q000097:blood / Q000150:complications* / Q000235:genetics*; D006470:Hemorrhage / Q000175:diagnosis / Q000453:epidemiology / Q000209:etiology*; D006579:Heterozygote; D006801:Humans; D008875:Middle Aged; D010641:Phenotype; D012307:Risk Factors; D055815:Young Adult
keywords: coagulation; factor VIII; haemophilia; haemostasis
references.citation: Blood. 1986 Jun;67(6):1554-9
references.pmid: 3085743
references.citation: Br J Obstet Gynaecol. 1990 Aug;97(8):734-9
references.pmid: 2400752
references.citation: Blood. 2006 Jul 1;108(1):52-6
references.pmid: 16551972
references.citation: Haemophilia. 2008 Mar;14(2):171-232
references.pmid: 18315614
references.citation: Blood Coagul Fibrinolysis. 2014 Jul;25(5):471-5
references.pmid: 24509327
references.citation: Blood Coagul Fibrinolysis. 2012 Jun;23(4):311-5
references.pmid: 22450545
references.citation: J Pediatr Hematol Oncol. 2014 May;36(4):e224-30
references.pmid: 24309601
references.citation: Am J Hematol. 2014 Aug;89(8):831-6
references.pmid: 24838518
references.citation: Haemophilia. 2014 Nov;20(6):e426-9
references.pmid: 25251752
references.citation: Haemophilia. 2011 Mar;17(2):246-51
references.pmid: 21118332