Annals of Hematology

, Volume 90, Issue 3, pp 301–306

Long-term outcome of hemizygous and heterozygous carriers of a germline GATA1G208R mutation


    • Klinik für HämatologieUniversitätsklinikum Essen
  • Christian P. Kratz
    • Klinik IV: Hämatologie und OnkologieZentrum für Kinderheilkunde und Jugendmedizin der Universität Freiburg
    • Clinical Genetics Branch, Division of Cancer Epidemiology and GeneticsNational Cancer Institute
  • Christian Flotho
    • Klinik IV: Hämatologie und OnkologieZentrum für Kinderheilkunde und Jugendmedizin der Universität Freiburg
  • Thomas Lauenstein
    • Institut für Diagnostische und Interventionelle Radiologie und NeuroradiologieUniversitätsklinikum Essen
  • Martin Bommer
    • Zentrum für Innere MedizinUniversitätsklinikum Ulm
  • Erika König
    • Klinik für HämatologieUniversitätsklinikum Essen
  • Günter Brittinger
    • Klinik für HämatologieUniversitätsklinikum Essen
  • Hermann Heimpel
    • Zentrum für Innere MedizinUniversitätsklinikum Ulm
Original Article

DOI: 10.1007/s00277-010-1088-9

Cite this article as:
Dührsen, U., Kratz, C.P., Flotho, C. et al. Ann Hematol (2011) 90: 301. doi:10.1007/s00277-010-1088-9


The transcriptional regulator GATA1 is crucially involved in megakaryocytopoiesis and erythropoiesis. Mutations of the gene which is located on the X chromosome have been associated with platelet and red blood cell abnormalities. We identified a family with a GATA1G208R mutation in whom a low male birth rate and frequent miscarriages among heterozygous females suggested increased fetal death in male hemizygotes. Female mutation carriers had normal or near normal hemoglobin levels and platelet counts ranging from normal to severely reduced, probably reflecting skewed X chromosome inactivation. Platelets were dimorphous, and thrombocytopenia was associated with erythroblastosis. The only living male mutation carrier had severe macrothrombocytopenia with life-threatening bleeding episodes, moderate to severe anemia, eosinopenia, skeletal abnormalities, and abundant extramedullary hematopoiesis. Long-term sequelae in the 50-year-old patient included unilateral nephrectomy following misinterpretation of paraspinal hematopoiesis as renal cancer, spinal stenosis which was possibly favored by progressive bone marrow expansion, and severe secondary gout.


AnemiaErythroblastosisExtramedullary hematopoiesisGATA1Thrombocytopenia

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© Springer-Verlag 2010