Human Genetics

, Volume 65, Issue 3, pp 252–256

Familial thrombocytopenia associated with platelet autoantibodies and chromosome breakage

  • F. M. Helmerhorst
  • D. C. Heaton
  • P. E. Crossen
  • A. E. G. Kr. von dem Borne
  • C. P. Engelfriet
  • A. T. Natarajan
Original Investigations

DOI: 10.1007/BF00286512

Cite this article as:
Helmerhorst, F.M., Heaton, D.C., Crossen, P.E. et al. Hum Genet (1984) 65: 252. doi:10.1007/BF00286512

Summary

An extended family is described in which three members had thrombocytopenia. These affected members had chromosomal changes resembling those found in Fanconi's anaemia, though they lacked the development defects associated with that syndrome. One had bone-marrow hypoplasia and died of squamous cell carcinoma of the mouth at the age of 27. In addition, all three had platelet autoantibodies not found in any other family members tested. There was no linkage between the thrombocytopenia and HLA groups. The nature of the association of thrombocytopenia, platelet autoantibodies and chromosomal abnormalities in this family remains doubtful.

Copyright information

© Springer-Verlag 1984

Authors and Affiliations

  • F. M. Helmerhorst
    • 1
  • D. C. Heaton
    • 2
  • P. E. Crossen
    • 3
  • A. E. G. Kr. von dem Borne
    • 1
    • 4
  • C. P. Engelfriet
    • 1
  • A. T. Natarajan
    • 5
  1. 1.Central Laboratory of the Netherlands Red Cross Blood Transfusion Service and Laboratory for Experimental and Clinical ImmunologyUniversity of AmsterdamAmsterdamThe Netherlands
  2. 2.Department of Haematology of the North Canterbury Hospital BoardChristchurchNew Zealand
  3. 3.Department of Cytogenetics (Cancer Society of New Zealand)Christchurch HospitalChristchurchNew Zealand
  4. 4.Department of Haematology, Academic Medical CenterUniversity of AmsterdamAmsterdamThe Netherlands
  5. 5.Department of Radiation Genetics and Chemical MutagenesisUniversity of LeidenLeidenThe Netherlands
  6. 6.Publication SecretariatCentral Laboratory of the Netherlands Red Cross Blood Transfusion ServiceAmsterdamThe Netherlands

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