Absence of Abnormalities of c-kit or Its Ligand in Two Patients With Diamond-Blackfan Anemia

• Published in: Blood Vol. 79; no. 1; pp. 25 - 28
• Main Authors: Abkowitz, Janis L., Broudy, Virginia C., Bennett, Larry G., Zsebo, Krisztina M., Martin, Frank H.
• Format: Journal Article
• Language: English
• Published: Washington, DC Elsevier Inc 01-01-1992; The Americain Society of Hematology
• Subjects: Adult; Anemias. Hemoglobinopathies; Base Sequence; Biological and medical sciences; Bone Marrow - metabolism; Diseases of red blood cells; DNA - genetics; Fanconi Anemia - genetics; Fanconi Anemia - metabolism; Female; Hematologic and hematopoietic diseases; Hematopoietic Cell Growth Factors - genetics; Hematopoietic Cell Growth Factors - metabolism; Humans; Male; Medical sciences; Molecular Sequence Data; Polymerase Chain Reaction; Proto-Oncogene Proteins - genetics; Proto-Oncogene Proteins c-kit; Receptors, Cell Surface - genetics; Stem Cell Factor; Human; Ligand; Pathogenesis; C-Onc gene; Hemopathy; Blackfan Diamond disease; Congenital disease; Protooncogene; Biological receptor
• ISSN: 0006-4971; 1528-0020
• DOI: 10.1182/blood.V79.1.25.25

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.©1992 by The American Society of Hematology. 0006–4971/92/7901-0038$3.00/0