Pyridoxal-5-phosphate-resistant sideroblastic anaemia with trisomy 8 mosaicism in the bone marrow.
A patient with sideroblastic anaemia manifested a trisomic condition for chromosome number 8 in 75% of his bone marrow cells. Cytogenetic studies of peripheral lymphocytes demonstrated a normal male karyotype. The anaemia was resistant to treatment with pyridoxal-5-phosphate; this is in contradiction with the response achieved in some patients with the primary acquired form of sideroblastic anaemia.
D000328:Adult; D000756:Anemia, Sideroblastic / Q000188:drug therapy / Q000235:genetics*; D001853:Bone Marrow / Q000648:ultrastructure; D001854:Bone Marrow Cells; D002906:Chromosomes, Human, 6-12 and X; D004351:Drug Resistance; D006801:Humans; D008297:Male; D009030:Mosaicism; D011732:Pyridoxal Phosphate / Q000627:therapeutic use*; D014314:Trisomy
D011732:Pyridoxal Phosphate