Different clinical phenotype in triplets with haemophilia A

Haemophilia

Volumn 13, Issue 2, 2007, Pages 202-205

  Barnes, C ^a   Blanchette, V ^a   Lillicrap, D ^b   Mann, K ^c   Stain, A M ^a   Leggo, J ^b   Hilliard, P ^a   Carcao, Manuel ^a  

^a HOSPITAL FOR SICK CHILDREN   (Canada)

^b QUEEN S UNIVERSITY   (Canada)

^c UNIVERSITY OF VERMONT   (United States)

Author keywords

Clinical phenotype; Haemophilia; Multiplebirths

Indexed keywords

ARGININE; BLOOD CLOTTING FACTOR 5 LEIDEN; BLOOD CLOTTING FACTOR 8; HISTIDINE; PROTHROMBIN; RECOMBINANT BLOOD CLOTTING FACTOR 8; THROMBIN;

ARTICLE; BLOOD CLOTTING TEST; CASE REPORT; CHILD; COMPUTER SIMULATION; DISEASE SEVERITY; DRUG HALF LIFE; GENETIC ANALYSIS; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HEMARTHROSIS; HEMATOMA; HEMOPHILIA A; HUMAN; HUMAN TRIPLETS; MALE; MISSENSE MUTATION; MULTIPLE PREGNANCY; ONSET AGE; PARTIAL THROMBOPLASTIN TIME; PRIORITY JOURNAL;

CHILD, PRESCHOOL; COMPUTER SIMULATION; FACTOR VIII; HEMOPHILIA A; HUMANS; INFANT; MALE; PHENOTYPE; POLYMORPHISM, GENETIC; TRIPLETS;

EID: 33846912561     PISSN: 13518216     EISSN: 13652516     Source Type: Journal    
DOI: 10.1111/j.1365-2516.2006.01396.x     Document Type: Article

References (8)

1. Lee M, Morfini M, Schulman S, Ingerslev J. Scientific and standardisation committee communication. The Design and Analysis of Pharmacokinetic Studies of Coagulation Factors. ISTH, 2001: http://www.med.unc.edu.
2. Hockin MF, Jones KC, Everse SJ, Mann KG. A model for the stoichiometric regulation of blood coagulation. J Biol Chem 2002; 277: 18322-33.
3. Schaison G, Caen J, Sultan Y, Bernard J. Hemophilia in triplets. Nouv Presse Med 1977; 6: 2161.
4. Buzzard BM. Sports and hemophilia: Antagonist or protagonist. Clin Orthop Relat Res 1996; 328: 25-30.
5. Sahyoun NR, Hochberg MC, Helmick CG, Harris T, Pamuk ER. Body mass index, weight change, and incidence of self-reported physician-diagnosed arthritis among women. Am J Public Health 1999; 89: 391-4.
6. Fijnvandraat K, Peters M ten Cate JW. Inter-individual variation in half-life of infused recombinant factor VIII is related to pre-infusion von Willebrand factor antigen levels. Br J Haematol 1995; 91: 474-6.
7. Nowak-Gottl U, Escuriola C, Kurnik K et al. Haemophilia and thrombophilia. What do we learn about combined inheritance of both genetic variations? Hamostaseologie 2003; 23: 36-40.
8. Manco-Johnson M, Nuss R, Funk M, Murphy J. Joint evaluation instruments for children and adults with haemophilia. Haemophilia 2000; 6: 649-57.