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Thromb Haemost 1975; 34(03): 806-820
DOI: 10.1055/s-0038-1653719
Original Article
Schattauer GmbH

Clinical and Genetic Aspects of Glanzmann’s Thrombasthenia in Israel

Report of 22 Cases
Nira Reichert
1   Department of Haematology, The Chaim Sheba Medical Center, Tel Hashomer and Sackler School of Medicine, Tel Aviv University, Israel
,
Uri Seligsohn
1   Department of Haematology, The Chaim Sheba Medical Center, Tel Hashomer and Sackler School of Medicine, Tel Aviv University, Israel
,
Bracha Ramot
1   Department of Haematology, The Chaim Sheba Medical Center, Tel Hashomer and Sackler School of Medicine, Tel Aviv University, Israel
› Author Affiliations
Further Information

Publication History

Received 26 May 1975

accepted 08 June 1975

Publication Date:
02 July 2018 (online)

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Summary

Twenty two patients (12 males and 10 females) from all over Israel fulfilled the ‘Criteria for establishing the diagnosis of Glanzmann’s thrombasthenia. All have been observed to have a severe bleeding tendency since infancy or early childhood. In 8 out of 10 adult patients (7 females and 3 males) the bleeding manifestations have persisted over the years. In 2 adult patients major surgery was performed under platelet transfusions which appeared to prevent excessive bleeding. Pedigree analysis was possible for 21 patients who belong to 13 unrelated kindreds. Twelve kindreds are Jewish and one is Arab. Eleven of the 12 Jewish kindreds belong to the Iraqi Jewish community. Analysis of 16 sibships disclosed a corrected segregation ratio of 0.2, which is compatible with an autosomal recessive mode of inheritance. No bleeding manifestation whatsoever were observed in 30 obligatory carriers of thrombasthenia, and the haemostatic functions tested in 12 of them were entirely normal.

 

  • References

  • 1 Bentegeat J, Verger P, Boisseau M, De Joigny C, Guillard J. M, and Le Menn R. 1968; Considerations cliniques, génétiques, biologiques et physiopatholo-giques sur la thrombasthénie de Glanzmann (A propos de 5 cas). Coagulation 1: 237.
    PubMedGoogle Scholar
  • 2 Brown C. H, Weisberg R. J, Natelson E. A, and Alfrey C. P. 1973; Prophylactic platelet transfusion in Glanzmann’s thrombasthenia. Clinical Research 21: 547.
    PubMedGoogle Scholar
  • 3 Caen J. P, Castaldi P. A, Leclerc J. C, Inceman S, Larrieu M. J, Probst M, and Bernard J. 1966; Congenital bleeding disorders with long bleeding time and normal platelet count. I. Glanzmann’s thrombasthenia (Report of 15 patients). American Journal of Medicine 41: 4.
    CrossrefPubMedGoogle Scholar
  • 4 Caen J. 1972; Glanzmann’s thrombasthenia. Clinics in Haematology 1: 383.
    PubMedGoogle Scholar
  • 5 Cronberg S, Nilsson I. M, and Zetterqvist E. 1967; Investigation of a family with members with both severe and mild degrees of thrombasthenia. Acta Paediatrica Scandinavica 56: 189.
    CrossrefPubMedGoogle Scholar
  • 6 Crow J. F. 1965 Genetics and Epidemiology of Chronic Diseases. Public Health Service Symposium, Washington, p. 23.
    PubMedGoogle Scholar
  • 7 Desbuquois G, Leroux M. E, Laugier J, Leroy J, Bremont J. P, and Rolland J. C. 1970; Intérêt de la transfusion d’échange au cours des hemorrhagies graves de la thrombasthenie de Glanzmann-Naegeli chez l’enfant: A propos de 2 cas. Annales de Pediatrie (Paris) 17: 49.
    PubMedGoogle Scholar
  • 8 De Vries A, Shafrir E, Efrati P, and Shamir Z. 1953; Thrombocytopathic purpura with normal prothrombin consumption. Hemorrhagic diathesis due to partial platelet dysfunction. Blood 8: 1000.
    PubMedGoogle Scholar
  • 9 Duke W. W. 1912; The pathogenesis of purpura hemorrhagica with especial reference to the part played by blood platelets. Archives of Internal Medicine 10: 445.
    PubMedGoogle Scholar
  • 10 Hardisty R. M, Dormandy K. M, and Hutton R. A. 1964; Thrombasthenia. Studies on three cases. British Journal of Haematology 10: 371.
    CrossrefPubMedGoogle Scholar
  • 11 Hardisty R. M, and Hutton R. A. 1965; The kaolin clotting time of platelet rich plasma: A test of platelet factor-3 availability. British Journal of Haematology 11: 258.
    CrossrefPubMedGoogle Scholar
  • 12 Ivy A. C, Nelson D, and Bûcher G. R. 1941; The standardization, of certain factors in the cutaneous “venostasis” bleeding time technique. Journal of Laboratory and Clinical Medicine 26: 1812.
    PubMedGoogle Scholar
  • 13 Lelong J. C. 1960 Thrombopathie de Glanzmann-Naegeli. Discussion nosologique de dix observations personelles. These, Paris, p. 71.
    PubMedGoogle Scholar
  • 14 Levy J. M, Mayer G, Sacrez R, Ruff R, Francfort J. J, and Rödler L. 1971; Thrombasthenie de Glanzmann-Naegeli. Etude d’un groupe ehtnique a forte endogamie. Semaine des Hôpitaux de Paris 47: 129.
    PubMedGoogle Scholar
  • 15 Marx R, and Jean G. 1962; Studien zur Pathogenese der thrombasthenie Glanzmann-Naegeli. Klinische Wochenschrift 40: 942.
    CrossrefPubMedGoogle Scholar
  • 16 Papayannis A. G, and Israels M. C. G. 1970; Glanzmann’s disease and trait. Lancet 2: 44.
    PubMedGoogle Scholar
  • 17 Reichert N, Seligsohn U, and Ramot B. 1973; Thrombasthenia in Iraqi Jews. Israel Journal of Medical Sciences 9: 1406.
    PubMedGoogle Scholar
  • 18 Seligsohn U, and Ramot B. 1969; Combined factor V and factor VIII deficiency: Report of four cases. British Journal of Haematology 16: 475.
    CrossrefPubMedGoogle Scholar
  • 19 Zahavi J, and Dreyfuss F. 1969; An abnormal pattern of adenosine diphosphate induced platelet aggregation in acute myocardial infarction. Thrombosis et Diathesis Haemorrhagica 21: 76.
    PubMedGoogle Scholar
  • 20 Zaizov R, Cohen I, and Matoth Y. 1968; Thrombasthenia: A study of two siblings. Acta Paediatrica Scandinavica 57: 522.
    CrossrefPubMedGoogle Scholar