Identical Twin Sisters with Thrombasthenia

Special Reference to Biochemical Analysis of Platelet Membranes

Abstract

Thrombasthenia is a rare hemorrhagic disorder associated with abnormal platelet function and is transmitted as an autosomal recessive gene. However, in Japan only two familial cases have been reported. We report identical twin sisters with thrombasthenia.
Recently biochemical studies of platelets from thrombasthenic patients have been reported. Nurden and Caen found an abnormal glycoprotein pattern in thrombasthenic platelet membranes by sodium dodecyl sulfate (SDS) acrylamide gel electrophoresis. According to their method we found the same result. Löhr et al reported disturbance of glycolysis in thrombasthenic platelets, but we found a decrease in pyruvate kinase activity only. This is the first report of biochemical studies in thrombasthenic platelets in this country.