Absence of abnormalities of c-kit or its ligand in two patients with Diamond-Blackfan anemia

Blood. 1992 Jan 1;79(1):25-8.

Abstract

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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adult
  • Base Sequence
  • Bone Marrow / metabolism
  • DNA / genetics
  • Fanconi Anemia / genetics*
  • Fanconi Anemia / metabolism
  • Female
  • Hematopoietic Cell Growth Factors / genetics*
  • Hematopoietic Cell Growth Factors / metabolism
  • Humans
  • Male
  • Molecular Sequence Data
  • Polymerase Chain Reaction
  • Proto-Oncogene Proteins / genetics*
  • Proto-Oncogene Proteins c-kit
  • Receptors, Cell Surface / genetics
  • Stem Cell Factor

Substances

  • Hematopoietic Cell Growth Factors
  • Proto-Oncogene Proteins
  • Receptors, Cell Surface
  • Stem Cell Factor
  • DNA
  • Proto-Oncogene Proteins c-kit