Protein S Tokushima: an abnormal protein S found in a Japanese family with thrombosis
Shigekiyo, T.; Uno, Y.; Kawauchi, S.; Saito, S.; Hondo, H.; Nishioka, J.; Hayashi, T.; Suzuki, K.
Thrombosis and Haemostasis 70(2): 244-246
1993
ISSN/ISBN: 0340-6245 PMID: 8236127 Document Number: 421360
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.