Diagnosis of Heterozygotes in Glanzmann’s Thrombasthenia

H Stormorken; G O Gogstad; N O Solum; H Pande

doi:10.1055/s-0038-1657260

Thrombosis and Haemostasis, Table of Contents

Thromb Haemost 1982; 48(02): 217-221
DOI: 10.1055/s-0038-1657260

Original Article

Schattauer GmbH Stuttgart

Diagnosis of Heterozygotes in Glanzmann’s Thrombasthenia

H Stormorken

The Research Institute for Internal Medicine, Section of Hemostasis and Thrombosis, University of Oslo, Rikshospitalet, Oslo, Norway

,

G O Gogstad

The Research Institute for Internal Medicine, Section of Hemostasis and Thrombosis, University of Oslo, Rikshospitalet, Oslo, Norway

,

N O Solum

The Research Institute for Internal Medicine, Section of Hemostasis and Thrombosis, University of Oslo, Rikshospitalet, Oslo, Norway

,

H Pande

¹The Nordland Central Hospital, Bodø, Norway

› Author Affiliations

Abstract

PDF Download

Summary

A study of a family with a propositus suffering from classical thrombasthenia type I has shown that the new immunochemical methods detect heterozygotes with high reliability. There was no overlapping between heterozygotes and normals, and the concentration of the glycoprotein II_b-III_a-complex is remarkably constant around 50–60% in the heterozygotes. Furthermore, heterozygotes as a group show an increased bleeding tendency.

Keywords

Thrombasthenia - Heterozygotes - Diagnosis - Laboratory - Clinical

PDF (968 kb)

References

References
1 Wahlberg T, Blombäck M. Improved detection of hemophilia A carriers by factor VIII related antigen (radioimmunoassay) and bleeding symptoms. Thromb Res 1981; 21: 339-346
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: 535-547
4 Hagen I, Nurden AT, Bjerrum OJ, Solum NO, Caen JP. Immunochemical evidence for protein abnormalities in platelets from patients with Glanzmann’s thrombasthenia and Bemard-Soulier syndrome. J Clin Invest 1980; 65: 722-731
5 Caen JP. Glanzmann’s thrombasthenia. Clin Haematol 1972; 1: 383-392
6 Hjort PF, Stormorken H. A study of in vitro and in vivo effects of a synthetic heparin-like anticoagulant: Dextran sulphate. Scand J Clin Lab Invest (Suppl. 29) 1957; 9: 13-14
7 Owren PA. The interrelations between Normotest and Thrombotest. Farmakoterapi 1969; 15: 1-13
8 Janson T, Grimmer Ø. Test conditions and sensitivity of the partial thromboplastin time (APTT) test “Cephotest”. Farmakoterapi 1969; 32: 36-46
9 Boda Z, Solum NO, Sztaricskai F, Rak K. Study of platelet agglutination induced by the antibiotics of the vancomycin group: Ristocetin, ristomycin, actinoidin and vancomycin. Thromb Haemos-tas 1979; 42: 1164-1180
10 Voss D. Untersuchungen zu Gerinnselretraktion. Proc VII Int Congr Haemat; Rome: 1958
11 Hellem AJ. Platelet adhesiveness in von Willebrand’s disease. A study with a new modification of the glass bead filter method. Scand J Haematol 1970; 7: 374-382
12 Born GVR. Aggregation of blood platelets by adenosine diphosphate and its reversal. Nature 1962; 194: 927-929
13 Nordøy A, Lund S. Platelet factor 3 activity, platelet phospholipids and their fatty add and aldehyde pattern in normal male subjects. Scand J Clin Lab Invest 1968; 22: 328-338
14 Hagen I, Bjerrum OJ, Solum NO. Characterization of Triton X-100 solubilized human platelet proteins by crossed immunoelectrophoresis. Reference patterns of extracts from whole platelets and isolated membranes. Eut J Biochem 1979; 99: 9-22
15 Gogstad GO, Hagen I, Krutnes MB, Solum NO. Dissociation of the glycoprotein II_b-III_a-complex in isolated human platelet membranes. Dependence on pH and divalent cations. Biochem Biophys Acta 1982; 689: 21-30
16 Laurell CB. Electroimmunoassay. Scand J Clin Lab Invest (Suppl. 124) 1972; 29: 21-37
17 Weeke B. Rocket immunoelectrophoresis. Scand J Immunol (Suppl. 01) 1973; 2: 15-56
18 Bradford MM. A rapid and sensitive method for the quantitation of microgram quantities of proteins utilizing the principle of protein dye-binding. Anal Biochem 1976; 72: 248-254
19 Solum NO, Hagen I, Peterka M. Human platelet glycoproteins. Further evidence that the »GP I«-band of whole platelets contain three different polypeptides one of which may be involved in the interaction between platelets and factor VIII. Thromb Res 1977; 10: 71-82
20 Kunicki TJ, Pidard D, Cazenave JP, Nurden AT, Caen J. Inheritance of the human alloantigen PL^A1 in type I Glanzmann’s thrombasthenia. J Clin Invest 1981; 62: 717-724
21 Reichert N, Seligsohn U, Ramot B. Clinical and genetic aspects of Glanzmann’s thrombasthenia in Israel. Thrombos Diathes haemorrh 1975; 34: 806-820
22 Cronberg S, Nilsson IM, Zetterquist E. Investigation of a family with members with both severe and mild degree of thrombasthenia. Acta Paediatr Scand 1967; 56: 189-197
23 Cronberg S, Nilsson IM. Investigations of patients with mild thrombasthenia – a hemorrhagic disorder with prolonged bleeding time probably due to a primary platelet defect. Acta Med. Scand 1968; 183: 163-175
24 Cronberg S, Nilsson IM. Investigation in a family with thrombasthenia of moderately severe type with 16 affected members. Scand J Haematol 1968; 5: 17-28