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Diagnosis of Heterozygous State for Bernard-Soulier Disease

Diagnosis of Heterozygous State for Bernard-Soulier Disease Correspondence © S. K arger A G , Basel Acta haemat. 71: 285-286(1984) 0 0 0 1 -5792/84/0714-0285 S 2.75/0 Bernard-Soulier disease (BSD) is an inherited identified by their giant platelets [1-3]. More recent­ bleeding disorder characterized by a prolonged ly, George et al. [2] described an abnorm al platelet bleeding time, with a normal or decreased number o f membrane glycoprotein I concentration in 3 hetero­ unusually large platelets which fail to aggregate in re­ zygotes from two families with BSD. sponse to ristocetin. This disease is generally trans­ In this study we investigated ristocetin-induced mitted as an autosomal recessive disorder, but it has platelet aggregation (RIPA) in heterozygous BSD also been shown that abnorm al platelet morphology patients to see if it might be helpful for their identifi­ is transm itted as an autosomal dom inant [I], In cation. 12 members from six families of patients with heterozygous BSD patients, giant platelets are found BSD were investigated. 6 o f them were mothers, 4 fa­ in significantly lesser numbers than in homozygous thers, and 2 were brothers o f o ur patients. Their ages BSD patients. Heterozygotes o f BSD are asym pto­ ranged from 6 to http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Acta Haematologica Karger

Diagnosis of Heterozygous State for Bernard-Soulier Disease

Acta Haematologica , Volume 71 (4): 2 – Jan 1, 1984

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References (5)

Publisher
Karger
Copyright
© 1984 S. Karger AG, Basel
ISSN
0001-5792
eISSN
1421-9662
DOI
10.1159/000206602
Publisher site
See Article on Publisher Site

Abstract

Correspondence © S. K arger A G , Basel Acta haemat. 71: 285-286(1984) 0 0 0 1 -5792/84/0714-0285 S 2.75/0 Bernard-Soulier disease (BSD) is an inherited identified by their giant platelets [1-3]. More recent­ bleeding disorder characterized by a prolonged ly, George et al. [2] described an abnorm al platelet bleeding time, with a normal or decreased number o f membrane glycoprotein I concentration in 3 hetero­ unusually large platelets which fail to aggregate in re­ zygotes from two families with BSD. sponse to ristocetin. This disease is generally trans­ In this study we investigated ristocetin-induced mitted as an autosomal recessive disorder, but it has platelet aggregation (RIPA) in heterozygous BSD also been shown that abnorm al platelet morphology patients to see if it might be helpful for their identifi­ is transm itted as an autosomal dom inant [I], In cation. 12 members from six families of patients with heterozygous BSD patients, giant platelets are found BSD were investigated. 6 o f them were mothers, 4 fa­ in significantly lesser numbers than in homozygous thers, and 2 were brothers o f o ur patients. Their ages BSD patients. Heterozygotes o f BSD are asym pto­ ranged from 6 to

Journal

Acta HaematologicaKarger

Published: Jan 1, 1984

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