Coinheritance of severe von Willebrand disease with Glanzmann thrombasthenia

Clinical and Applied Thrombosis/Hemostasis

Volumn 16, Issue 5, 2010, Pages 529-532

  Ahmad, Firdos ^a   Kannan, Meganathan ^a   Kishor, Kamal ^a   Saxena, Renu ^a,b  

^a INSTITUTE ROTARY CANCER HOSPITAL   (India)

^b ALL INDIA INSTITUTE OF MEDICAL SCIENCES   (India)

Author keywords

Bleeding; Glanzmann thrombasthenia; Mutation; Phenotypes; Von Willebrand Disease

Indexed keywords

ADULT; ARTICLE; BLEEDING; BLOOD CLOTTING DISORDER; BLOOD CLOTTING TEST; CASE REPORT; CLINICAL FEATURE; COMORBIDITY; CONSANGUINEOUS MARRIAGE; DISABILITY SEVERITY; DNA DETERMINATION; FAMILY ASSESSMENT; GENE MUTATION; GLANZMANN DISEASE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; INHERITANCE; LABORATORY TEST; MALE; NULL ALLELE; PRIORITY JOURNAL; PROGENY; SUBSTITUTION THERAPY; THROMBOCYTE AGGREGATION; VON WILLEBRAND DISEASE;

ADULT; CHILD; FEMALE; HEMORRHAGE; HUMANS; MALE; PLATELET AGGREGATION; THROMBASTHENIA; VON WILLEBRAND DISEASES;

EID: 77955881913     PISSN: 10760296     EISSN: None     Source Type: Journal    
DOI: 10.1177/1076029609360527     Document Type: Article

References (14)

1. Sadler JE A revised classification of von Willebrand disease. For the Subcommittee on von Willebrand Factor of the Scientific and Standardization Committee of the International Society on Thrombosis and Haemostasis. Thromb Haemost. 1994 ; 71 (4). 520-525.
2. Nurden AT, Caen JP An abnormal platelet glycoprotein pattern in three cases of Glanzmann's thrombasthenia. Br J Haematol. 1974 ; 28 (2). 253-260.
3. Phillips DR, Jenkins CS, Luscher EF, Larrieu M. Molecular differences of exposed surface proteins on thrombasthenic platelet plasma membranes. Nature. 1975 ; 257 (5527). 599-600.
4. Asatiani E., Kessler CM, and the Directors of the Comprehensive Hemophilia Treatment Centers in Region III. Multiple congenital coagulopathies co-expressed with Von Willebrand's disease: the experience of Hemophilia Region III Treatment Centers over 25 years and review of the literature. Haemophilia. 2007 ; 13 (6). 685-696.
5. Ivy AC, Nelson D., Buchet G. The standardization of certain factors in the cutaneous 'venostasis' bleeding time technique. J Lab Clin Med. 1941 ; 26 (5). 1812-1822.
6. Ahmad F., Kannan M., Biswas A., Saxena R. Impact of 789Ala/Ala genotype on quantitative type von Willebrand Disease. Ann Hematol. 2009 ; 88 (5). 479-483.
7. Macfarlane DE, Stibbe J., Kirby EP, Zucker MB, Grant RA, McPherson J. A method for assaying von Willebrand factor (Ristocetin cofactor). Thromb Diath Haemorrh. 1975 ; 34 (1). 306-308.
8. Sambrook J., Fritsch EF, Maniatis T. Molecular Cloning: A Laboratory Manual. Cold Spring Harbor, NY: Cold Spring Harbor Laboratory ; 1989.
9. Schneppenheim R., Brassard J., Krey S., et al. Defective dimerisation of von Willebrand factor subunits due to a Cys-Arg mutation in type IID von Willebrand disease. Proc Natl Acad Sci U S A. 1996 ; 93 (8). 3581-3586.
10. Mancuso DJ, Tuley EA, Westfield LA, et al. Human von Willebrand factor gene and pseudogene structural analysis and differentiation by polymerase chain reaction. Biochemistry. 1991 ; 30 (1). 253-269.
11. Purvis AR, Gross J., Dang LT, et al. Two Cys residues essential for von Willebrand factor multimers assembly in the Golgi. Proc Natl Acad Sci U S A. 2007 ; 104 (40). 15647-15652.
12. Rosenberg N., Hauschner H., Peretz H., et al. A 13-bp deletion in alpha(IIb) gene is a founder mutation that predominates in Palestinian-Arab patients with Glanzmann thrombasthenia. J Thromb Haemost. 2005 ; 3 (12). 2764-2772.
13. Nounou R., Spence D. Glanzmann's thrombasthenia with mild von Willebrand's disease. J Clin Pathol. 1993 ; 46 (12). 1134-1136.
14. Nurden AT, Breillat C., Jacquelin B., et al. Triple heterozygosity in the integrin alphaIIb subunit in a patient with Glanzmann's thrombasthenia. J Thromb Haemost. 2004 ; 2 (5). 813-819.