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Absence of abnormalities of c-kit or its ligand in two patients with
Diamond-Blackfan anemia
JL Abkowitz, VC Broudy, LG Bennett, KM Zsebo and FH Martin
Department of Medicine, University of Washington, Seattle 98195.
As Diamond-Blackfan anemia shares clinical features with W and Steel
defects in mice, we investigated the possibility that this human disorder
might result from an abnormality of the c-kit receptor or its ligand, stem
cell factor (SCF). For these studies, full nucleotide sequences for coding
regions of c-kit and SCF were generated for two Diamond-Blackfan anemia
patients and were normal. Similarly, the kds of SCF receptors on their
marrow cells (31 pmol/L, 43 pmol/L) were comparable with those found in
three normal controls (50 pmol/L, 55 pmol/L, 27 pmol/L). Serum SCF
concentrations were 6.9 ng/mL in patient A, 14.6 ng/mL in patient B, who
has been in hematologic remission since adolescence, and 2.7 ng/mL in the
3-year-old daughter of patient B, who also has Diamond-Blackfan anemia but
is transfusion-dependent. It is possible that the SCF level in patient B
increased with puberty, leading to her remission. These data provide
evidence that Diamond- Blackfan anemia does not result from structural
abnormalities of c-kit or SCF.
Volume 79,
Issue 1,
pp. 25-28,
01/01/1992
Copyright © 1992 by The American Society of Hematology
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