Protein S Tokushima: an abnormal protein S found in a Japanese family with thrombosis.

Abstract

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.

• Authors: T Shigekiyo, Y Uno, S Kawauchi, S Saito, H Hondo, J Nishioka, T Hayashi, K Suzuki
• Journal: Thrombosis and haemostasis (Thromb Haemost) Vol. 70 Issue 2 Pg. 244-6 (Aug 02 1993) ISSN: 0340-6245 [Print] Germany
• PMID: 8236127 (Publication Type: Case Reports, Journal Article)

Chemical References

• Carrier Proteins
• Integrin alphaXbeta2
• Protein S
• protein S Tokushima

Topics

• Adult
• Carrier Proteins (analysis)
• Female
• Fetal Death (etiology)
• Genes, Dominant
• Humans
• Immunoblotting
• Integrin alphaXbeta2
• Japan
• Male
• Middle Aged
• Molecular Weight
• Pedigree
• Pregnancy
• Pregnancy Complications, Hematologic (blood, etiology)
• Protein S (genetics, isolation & purification)
• Recurrence
• Thrombosis (blood, genetics)