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Thromb Haemost 1993; 70(02): 244-246
DOI: 10.1055/s-0038-1649477
Original Articles
Clinical Studies
Schattauer GmbH Stuttgart

Protein S Tokushima: An Abnormal Protein S Found in a Japanese Family with Thrombosis

T Shigekiyo
1   The First Department of Internal Medicine, Mie University School of Medicine, Mie, Japan
,
Y Uno
1   The First Department of Internal Medicine, Mie University School of Medicine, Mie, Japan
,
S Kawauchi
1   The First Department of Internal Medicine, Mie University School of Medicine, Mie, Japan
,
S Saito
1   The First Department of Internal Medicine, Mie University School of Medicine, Mie, Japan
,
H Hondo
2   The Department of Neurological Surgery, School of Medicine, The University of Tokushima, Tokushima, Japan
,
J Nishioka
3   The Department of Molecular Biology on Genetic Disease, Mie University School of Medicine, Mie, Japan
,
T Hayashi
3   The Department of Molecular Biology on Genetic Disease, Mie University School of Medicine, Mie, Japan
,
K Suzuki
3   The Department of Molecular Biology on Genetic Disease, Mie University School of Medicine, Mie, Japan
› Author Affiliations
Further Information

Publication History

Received 27 July 1992

Accepted after revision 11 February 1993

Publication Date:
04 July 2018 (online)

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Summary

An abnormal protein S (PS) was found in a Japanese family with a high incidence of thrombosis. The proband is a woman who was born in Tokushima Prefecture. She had superior sagittal sinus thrombosis, thrombophlebitis of the left leg, and thrombosis of the placenta. She had a normal plasma level of free PS antigen but decreased PS activity. Her mother and aunt also had thrombophlebitis of the leg, and together with four other family members also showed a normal level but decreased activity of PS. This suggests that hereditary dysfunction of PS is inherited in this family as an autosomal dominant trait. The proband’s PS appears to have a slightly higher molecular weight than normal PS both in the intact and modified form, suggesting that it has a molecular defect on the carboxyl-terminal side of the thrombin-sensitive site. This abnormal PS with apparently unique characteristics was named PS Tokushima.

 

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