Re-evaluation of three Israeli families initially diagnosed with type 1 von Willebrand disease in light of the ISTH update on von Willebrand factor pathophysiology and classification

Haemophilia

Volumn 14, Issue 3, 2008, Pages 621-624

  Hashemi Soteh, S M B ^a,c   Anson, J ^a   Inbal, A ^b   Peake, I R ^a   Goodeve, A C ^a  

^a UNIVERSITY OF SHEFFIELD   (United Kingdom)

^b TEL AVIV UNIVERSITY   (Israel)

^c MAZANDARAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

Author keywords

[No Author keywords available]

Indexed keywords

BOTROCETIN; DESMOPRESSIN; POLYMER; RISTOCETIN A; VON WILLEBRAND FACTOR;

ABNORMAL LABORATORY RESULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BLEEDING TIME; BLOOD LEVEL; CLINICAL ARTICLE; CLINICAL FEATURE; COLON RESECTION; CONTROLLED STUDY; DIAGNOSTIC ERROR; DISEASE CLASSIFICATION; EPISTAXIS; EXON; FAMILY STUDY; GENE MUTATION; GENE SEGREGATION; GENETIC SCREENING; HAPLOTYPE; HEMATEMESIS; HEMATURIA; HETEROZYGOSITY; HUMAN; INTRON; ISRAEL; LINKAGE ANALYSIS; MUTATIONAL ANALYSIS; PATHOPHYSIOLOGY; PEDIGREE ANALYSIS; PHENOTYPE; POSTPARTUM HEMORRHAGE; PRIORITY JOURNAL; SHORT TANDEM REPEAT; TREATMENT RESPONSE; VON WILLEBRAND DISEASE;

DIAGNOSIS, DIFFERENTIAL; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; HAPLOTYPES; HUMANS; ISRAEL; MALE; MUTATION; PEDIGREE; PHENOTYPE; POLYMORPHISM, GENETIC; VON WILLEBRAND DISEASE; VON WILLEBRAND FACTOR;

EID: 43149115418     PISSN: 13518216     EISSN: 13652516     Source Type: Journal    
DOI: 10.1111/j.1365-2516.2008.01700.x     Document Type: Article

References (5)

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2. Berliner SA, Seligsohn U, Zivelin A, Zwang E, Sofferman G. A relatively high frequency of severe (type III) von Willebrand's disease in Israel. Br J Haematol 1986; 62: 535-43.
3. Mannucci PM, Lombardi R, Castaman G et al. Von Willebrand disease "Vicenza"with larger-than-normal (supranormal) von Willebrand factor multimers. Blood 1988; 71: 65-70.
4. Castaman G, Eikenboom JC, Rodeghiero F, Briet E, Reitsma PH. A novel candidate mutation (Arg611 → His) in type I 'platelet discordant'von Willebrand's disease with desmopressin-induced thrombocytopenia. Br J Haematol 1995; 89: 656-8.
5. Meyer D, Fressinaud E, Gaucher C et al. Gene defects in 150 unrelated French cases with type 2 von Willebrand disease: From the patient to the gene. INSERM Network on Molecular Abnormalities in von Willebrand Disease. Thromb Haemost 1997; 78: 451-6.