Detection of Carriers in Glanzmann's Thrombasthenia

G T E Zonneveld; E F van Leeuwen; A Sturk; J W ten Cate

doi:10.1055/s-0038-1657357

Thrombosis and Haemostasis, Table of Contents

Thromb Haemost 1983; 49(03): 182-186
DOI: 10.1055/s-0038-1657357

Original Article

Schattauer GmbH Stuttgart

Detection of Carriers in Glanzmann's Thrombasthenia

G T E Zonneveld

The Division of Haemostasis, Department of Haematology, University Hospital “Wilhelmina Gasthuis”, Amsterdam

,

E F van Leeuwen

^*The Central Laboratory of the Netherlands Red Cross Blood Transfusion Service, Laboratory for Experimental and Clinical Immunology, Amsterdam, The Netherlands

,

A Sturk

The Division of Haemostasis, Department of Haematology, University Hospital “Wilhelmina Gasthuis”, Amsterdam

,

J W ten Cate

The Division of Haemostasis, Department of Haematology, University Hospital “Wilhelmina Gasthuis”, Amsterdam

› Author Affiliations

Abstract

PDF Download

Summary

Quantitative glycoprotein (GP) analysis of whole platelets or platelet membranes was performed by SDS-polyacrylamide gelelectrophoresis (SDS-PAGE) and periodic acid Schiff staining in the families of two unrelated Glanzmann’s thrombasthenia (GT) patients. Each family consisted of two symptom free parents, a symptom free daughter and a GT daughter. All symptom free members had a normal bleeding time, clot retraction and platelet aggregation response to adenosine 5’-diphosphate (ADP), collagen and adrenalin. Platelet Zw* antigen was normally expressed in these subjects. GT patiens, classified as a type I and II subject, showed reduced amounts of GP lib and of GP nia. Analysis of isolated membranes in the non-reduced state, however, showed that the amount of GP Ilia was also reduced in three of the four parents, whereas one parent (of the GT type I patient) and the two unaffected daughters had normal amounts of GP Ilia. Quantitative SDS-PAGE may therefore provide a method for the detection of asymptomatic carriers in GT type I and II.

Keywords

Glanzmann’s thrombasthenia - Carrier detection - Quantitative SDS-polyacrylamide gel electrophoresis - Platelet membrane glycoproteins

PDF (1696 kb)

References

References
1 Caen JP, Castaldi PA, Leclerc JC, Inceman S, Larrieu MJ, Probst M, Bernard J. Congenital bleeding disorders with long bleeding time and normal platelet count. I. Glanzmann’s thrombasthenia (Report of patients). Am J Med 1966; 41: 04-26
2 Nurden AT, Caen JP. An abnormal platelet glycoprotein pattern in three cases of Glanzmann’s thrombasthenia. Br J Haematol 1974; 28: 253-260
3 Phillips DR, Poh Agin P. Platelet membrane defects in Glanzmann’s thrombasthenia. J Clin Invest 1977; 60: 535-545
4 Hagen I, Nurden A, Bjerrum OJ, Solum NO, Caen J. Immunochemical evidence for protein abnormalities in platelets from patients with Glanzmann’s thrombasthenia and Bernard-Soulier syndrome. J Clin Invest 1980; 65: 722-731
5 Jamieson GA, Okumura T, Fishback B, Johnson MM, Egan JJ, Weiss HJ. Platelet membrane glycoproteins in thrombasthenia, Bernard-Soulier syndrome and storage pool disease. J Lab Clin Med 1979; 93: 652-660
6 Lévy JM, Stoll C, Gardea A, Bigel P. Clinique et génétique dans la thrombasthénie de Glanzmann. Nouv Rev Fr Hematol 1976; 16: 399-406
7 Lusher JM, Barnhart M I. Congenital disorders affecting platelets. Semin Thromb Haemostas 1977; 4: 123-186
8 Karaca M, Nilsson IM. Diagnosis of mild thrombasthenia. Lancet 1970; 2: 1084-1085
9 Degos L, Dautigny A, Broutet JC, Colombani M, Ardaillou N, Caen JP, Colombani J. A molecular defect in thrombasthenie platelets. J Clin Invest 1975; 56: 236-240
10 McEver RP, Bänziger NL, Majerus PW. Isolation and quantitation of the platelet membrane glycoprotein deficient in thrombasthenia using a monoclonal hybridoma antibody. J Clin Invest 1980; 66: 1311-1318
11 Kunicki TJ, Pidard D, Cazenave J-P, Nurden AT, Caen JP. Inheritance of the human platelet alloantigen PL^A1, in type I Glanzmann’s thrombasthenia. J Clin Invest 1981; 67: 717-724
12 Stormorken H, Gogstad GO, Solum NO, Pande H. Diagnosis of Heterozygotes in Glanzmann’s Thrombasthenia. Thromb Haemostas 1982; 48: 217-221
13 George JN, Reimann TA, Moake JL, Morgan RK, Cimo PL, Sears DA. Bernard-Soulier Disease: a Study of Four Patients and their Parents. Br J Haematol 1981; 48: 459-467
14 Born GV R. Aggregation of blood platelets by adenosine diphosphate and its reversal. Nature 1962; 194: 927-929
15 Borne A EG Kr von dem, Verheugt FW A, Oosterhof F, Riesz Evon, Brutèle dela Rivifere A, Engelfriet CP. A simple immunofluorescence test for the detection of platelet antibodies. Br J Haematol 1978; 39: 195-207
16 Leeuwen EF van, Borne AE G Kr von dem, Riesz Evon, Nijenhuis LE, Engelfriet C P. Absence of platelet specific alloantigens in Glanzmann’s thrombasthenia. Blood 1981; 57: 49-54
17 Lowry OH, Rosebrough NJ, Farr AL, Randall RJ. Protein measurement with the Folin phenol reagent. J Biol Chem 1951; 193: 265-275
18 Fairbanks G, Steck TL, Wallach DF H. Electrophoretic analysis of the major polypeptides of the human erythrocyte membrane. Biochemistry 1971; 10: 2606-2617
19 Clemetson KJ, Capitanio A, Lüscher EF. High resolution twodimensional gel electrophoresis of the proteins and glycoproteins of human blood platelets and platelet membranes. Biochim Biophys Acta 1979; 553: 11-24
20 Clemetson KJ, Pfueller SL, Lüscher EF, Jenkins CS P. Isolation of the membrane glycoproteins of human blood platelets by lectin affinity chromatography. Biochim Biophys Acta 1977; 464: 493-508
21 Phillips DR, Poh AginP. Platelet plasma membrane glycoproteins. Evidence for the presence of nonequivalent disulfide bonds using nonreduced-reduced two-dimensional gel electrophoresis. J Biol Chem 1977; 252: 2121-2126
22 George JN. Studies on platelet plasma membranes. IV. Quantitative analysis of platelet membrane glycoproteins by (¹²⁵I)-diazotized diiodosulfanilic acid labeling and SDS-polyacrylamide gel electrophoresis. J Lab Clin Med 1978; 92: 430-446
23 McGregor JL, Clemetson KJ, James E, Capitanio A, Greenland T, Liischer EF, Dechavanne M. Glycoproteins of platelet membranes from Glanzmann’s thrombasthenia. Eur J Biochem 1981; 116: 379-388
24 Clemetson KJ, Capitanio A, Pareti FJ, McGregor JL, Lüscher EF. Additional platelet membrane glycoprotein abnormalities in Glanzmann’s thrombasthenia: a comparison with normals by high resolution two-dimensional polyacrylamide gel electrophoresis. Thromb Res 1980; 18: 797-806
25 Holahan JR, White GC. Heterogeneity of membrane surface proteins in Glanzmann’s thrombasthenia. Blood 1981; 57: 174-181
26 Peterson DM, Wehring B. Isoelectric characteristics and surface radioiodination of normal and thrombasthenie platelet membrane glycoproteins. Thromb Res 1981; 22: 53-65