Bernard-Soulier syndrome due to GPIX W127X mutation in Japan is frequently misdiagnosed as idiopathic thrombocytopenic purpura [2]

International Journal of Hematology

Volumn 83, Issue 4, 2006, Pages 366-367

  Kunishima, Shinji ^a   Yamada, Toshiki ^b   Hamaguchi, Motohiro ^a   Saito, Hidehiko ^a  

^a NATIONAL HOSPITAL ORGANIZATION NAGOYA MEDICAL CENTER   (Japan)

^b GIFU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; BERNARD SOULIER DISEASE; BLEEDING TIME; BLOOD SMEAR; CASE REPORT; CLINICAL FEATURE; CONTROLLED STUDY; DIAGNOSTIC ERROR; DISEASE SEVERITY; FEMALE; FLOW CYTOMETRY; GENE; GENE MUTATION; GPIX W127X GENE; HOMOZYGOSITY; HUMAN; IDIOPATHIC THROMBOCYTOPENIC PURPURA; LETTER; SYMPTOMATOLOGY; THROMBOCYTE AGGLUTINATION; THROMBOCYTE AGGREGATION;

AMINO ACID SUBSTITUTION; BERNARD-SOULIER SYNDROME; FALSE POSITIVE REACTIONS; FEMALE; HUMANS; JAPAN; MIDDLE AGED; PLATELET GLYCOPROTEIN GPIB-IX COMPLEX; POINT MUTATION; PURPURA, THROMBOCYTOPENIC, IDIOPATHIC;

EID: 33744472204     PISSN: 09255710     EISSN: None     Source Type: Journal    
DOI: 10.1532/IJH97.06017     Document Type: Letter

References (8)

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3. Hayashi T, Suzuki K, Yahagi A, et al. Corrected DNA sequence of the platelet glycoprotein IX gene. Thromb Haemost. 1997;77: 1034-1035.
4. Noda M, Fujimura K, Takafuta T, et al. Heterogeneous expression of glycoprotein Ib, IX and V in platelets from two patients with Bernard-Soulier syndrome caused by different genetic abnormalities. Thromb Haemost. 1995;74:1411-1415.
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7. Kunishima S, Imai T, Hamaguchi M, Saito H. Novel heterozygous missense mutation in the second leucine rich repeat of GPIbα affects GPIb/IX/V expression and results in macrothrombocytopenia in a patient initially misdiagnosed with idiopathic thrombocytopenic purpura. Eur J Haematol. 2006;76:348-355.
8. Kunishima S, Yamazaki T, Matsushita T, Sako M, Hamaguchi M, Saito H. Variant Bernard-Soulier syndrome caused by compound herterozygous mutations in the GPIbβ gene. Platelets. 2004;15:374-375.