A diagnostic challenge: Mild hemophilia B with normal activated partial thromboplastin time

Blood Coagulation and Fibrinolysis

Volumn 21, Issue 4, 2010, Pages 368-371

  Park, Chang Hun ^a   Seo, Ja Young ^a   Kim, Hee Jin ^a,b   Jang, Jun Ho ^a   Kim, Sun Hee ^a  

^a Sungkyunkwan University   (South Korea)

^b Yonsei University   (South Korea)

Author keywords

Activated partial thromboplastin time; F9; Gly94Arg (Gly48Arg); Hemophilia B; Mild; Mutation

Indexed keywords

VON WILLEBRAND FACTOR;

ADULT; ARTICLE; BLEEDING TENDENCY; BLOOD CLOTTING TIME; CASE REPORT; ENZYME ACTIVITY; FAMILY HISTORY; GENETIC ANALYSIS; HEMOPHILIA B; HUMAN; INTERNATIONAL NORMALIZED RATIO; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PARTIAL THROMBOPLASTIN TIME; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; THROMBIN TIME; THROMBOCYTE AGGREGATION; TOOTH EXTRACTION;

ADULT; FACTOR IX; HEMOPHILIA B; HUMANS; MALE; MUTATION, MISSENSE; PARTIAL THROMBOPLASTIN TIME; YOUNG ADULT;

EID: 77951886992     PISSN: 09575235     EISSN: None     Source Type: Journal    
DOI: 10.1097/MBC.0b013e3283367946     Document Type: Article

References (10)

1. Review of hemophilia B in GeneTests. http://www.ncbi.nlm.nih.gov/ bookshelf/br.fcgi?book=gene=hemo-b.
2. Kwon MJ, Yoo KY, Kim HJ, Kim SH. Identification of mutations in the F9 gene including exon deletion by multiplex ligation-dependent probe amplification in 33 unrelated Korean patients with haemophilia B. Haemophilia 2008; 14: 1069-1075.
3. Landau M, Mayrose I, Rosenberg Y, Glaser F, Martz E, Pupko T, et al. ConSurf 2005: the projection of evolutionary conservation scores of residues on protein structures. Nucleic Acids Res 2005; 33: W299-302.
4. Larkin MA, Blackshields G, Brown NP, Chenna R, McGettigan PA, McWilliam H, et al. Clustal W and Clustal X version 2.0. Bioinformatics 2007; 23: 2947-2948.
5. Feinberg H, Uitdehaag JC, Davies JM, Wallis R, Drickamer K, Weis WI. Crystal structure of the CUB1-EGF-CUB2 region of mannose-binding protein associated serine protease-2. EMBO J 2003; 22: 2348-2359.
6. Pouplard C, Trossaert M, LE Querrec A, Delahousse B, Giraudeau B, Gruel Y. Influence of source of phospholipids for APTT-based factor IX assays and potential consequences for the diagnosis of mild haemophilia B. Haemophilia 2009; 15: 365-368.
7. Haemophilia B. Mutation database. Version 13, 2004. http://www.kcl.ac.uk/ ip/petergreen/haemBdatabase.html.
8. Lin SW, Shen MC. Characterization of genetic defects of hemophilia B of Chinese origin. Thromb Haemost 1991; 66: 459-463.
9. Attali O, Vinciguerra C, Trzeciak MC, Durin A, Pernod G, Gay V, et al. Factor IX gene analysis in 70 unrelated patients with haemophilia B: description of 13 new mutations. Thromb Haemost 1999; 82: 1437-1442.
10. Chavali S, Sharma A, Tabassum R, Bharadwaj D. Sequence and structural properties of identical mutations with varying phenotypes in human coagulation factor IX. Proteins 2008; 73: 63-71.