[Dominant form of Diamond-Blackfan anemia].
Diamond-Blackfan anaemia (congenital hypoplastic anaemia) is a rare hereditary disease with isolated congenital hypoplasia of red blood cells precursors in bone marrow, and its important characteristic is successful treatment. Most of the patients become symptomatic in the first year of life and it lasts lifelong. In 25% of patients with Diamond-Blackfan anaemia 19q13 gene mutation was detected, and recent findings suggest another gene located on 8p23.3-p22 chromosome. Two sisters with mild clinical manifestations of Diamond-Blackfan anaemia were studied at the Department of Paediatrics in the Osijek University Hospital. First symptoms in both of these patients were noticed at the age of 5 months. Bone marrow puncture showed isolated hypoplasia of morphologically normal red blood cells precursors. Patients responded well to corticosteroid therapy. All members of patients' family were genetically tested for known loci for this disease, but tests showed no genetical abnormalities. Diagnosis was made by clinical symptoms, cytological findings and ex iuvantibus. We believe that patients are in the group with good outlook, since minimal steroid therapy stabilized their symptoms, and they developed no addiction either to high-dosed steroids, or to transfusions.
Stimac
Maja
M
Klinicka bolnica Osijek, Klinika za pedijatriju, J. Huttlera 4, 31000 Osijek.
Calo
Julijana
J
Turjak
Nevenka
N
Loncar
Branka
B
D029503:Anemia, Diamond-Blackfan / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D002648:Child; D002675:Child, Preschool; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D010375:Pedigree