Iron overload in patients with sideroblastic anaemia is not related to the presence of the haemochromatosis Cys282Tyr and His63Asp mutations.

Forty Caucasian patients with primary acquired sideroblastic anaemia (SA), were investigated for the presence of the Cys282Tyr and/or His63Asp mutation as possible cofactor(s) for iron overload. One patient was heterozygous for the Cys282Tyr mutation and 13 heterozygotes and one homozygote for the His63Asp mutation were found (no difference compared with controls). SA patients with normal codon 63 had a mean ferritin level of 923+/-815 microg/l whereas those with codon 63 mutation had 769+/-577 microg/l (P=0.64). We conclude that ineffective erythropoiesis with no associated mutation in the HFE gene can lead to iron overload in SA patients.

Acute monocytic leukaemia in adults: treatment and prognosis in 99 cases.

Acute monocytic leukaemia (AMoL) was diagnosed in 99 adults, aged 18-85 years (median 56) over a period of 10 years. Sixty-five patients had extramedullary leukaemia, 13 had clinical signs of leucostasis, and 19 had disseminated intravascular coagulation. Four patients died before receiving any treatment, 12 received supportive care only and seven received low dose AraC, but only one of them responded. Seventy-six patients received intensive chemotherapy, 72 of them with an anthracycline-AraC based regimen, with or without an epipodophyllotoxin. Fifteen patients died within 7 d of diagnosis, due to leucostasis in nine cases. Predictive factors for early death were advanced age, leucostasis, fever, leucocytes above 100 x 10(9)/l, and renal failure. Fifty (66%) of the patients treated intensively reached complete remission (CR). Advanced age, fever and complex cytogenetic abnormalities were significantly associated with a lower CR rate. Median actuarial disease-free survival was 20.5 months, and was not significantly influenced by any pretreatment parameter. Five patients relapsed in the central nervous system (CNS), in spite of systematic CNS prophylaxis. No differences in CR rates were seen with the three anthracycline-AraC based regimens used in our patients. Significant differences in disease-free survival were seen between them, however, suggesting that early consolidation chemotherapy and, more hypothetically, epipodophyllotoxin agents could prolong remission duration in AMoL.