Absence of abnormalities of c-kit or its ligand in two patients with Diamond-Blackfan anemia.
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.
Department of Medicine, University of Washington, Seattle 98195.
J L
JL
Abkowitz
V C
VC
Broudy
L G
LG
Bennett
K M
KM
Zsebo
F H
FH
Martin
D000328:Adult; D001483:Base Sequence; D001853:Bone Marrow / Q000378:metabolism; D004247:DNA / Q000235:genetics; D005199:Fanconi Anemia / Q000235:genetics* / Q000378:metabolism; D005260:Female; D016298:Hematopoietic Cell Growth Factors / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D019009:Proto-Oncogene Proteins c-kit; D011956:Receptors, Cell Surface / Q000235:genetics; D019089:Stem Cell Factor
D016298:Hematopoietic Cell Growth Factors; D011518:Proto-Oncogene Proteins; D011956:Receptors, Cell Surface; D019089:Stem Cell Factor; D004247:DNA; D019009:Proto-Oncogene Proteins c-kit