I. Sekine et al., THROMBOCYTOPENIA WITH ABSENT RADII SYNDROME - STUDIES ON SERUM THROMBOPOIETIN LEVELS AND MEGAKARYOPOIESIS IN-VITRO, Journal of pediatric hematology/oncology, 20(1), 1998, pp. 74-78
Purpose: The pathogenesis of thrombocytopenia in patients with thrombo
cytopenia with absent radii (TAR) syndrome has not been clarified yet.
Patients and Methods: This is the first report of a Japanese patient
with TAR syndrome. We studied his megakaryopoiesis in vitro and serum
levels of thrombopoietin (TPO). Results: Serum levels of TPO in the pa
tient with TAR syndrome were comparable with those of an age-matched c
ontrol. The bone marrow cells from the patient with TAR syndrome actua
lly generated megakaryocyte colonies in the presence of TPO and the nu
mbers were significantly greater than those from the age-matched contr
ol marrow. However, megakaryocyte colonies from the marrow cells with
TAR syndrome contained a much lower number of cells per colony and the
size of the individual megakaryocytes appeared to be smaller. Conclus
ion: These data suggest that megakaryocyte progenitors from patients w
ith TAR syndrome may have decreased proliferative and differentiative
capacity to respond to TPO, leading to thrombocytopenia.