Intracerebral tumor and diffuse central nervous system infiltration complicating acute myelogenous leukemia.

An intracerebral space occupying lesion was found in a 20-year-old woman with acute myelogenous leukemia (AML) when she was in complete hematological remission. Computerized tomography of the brain demonstrated the tumor in the roof of the third ventricle and its subsequent resolution after cranial irradiation and intraventricular cytosine-arabinoside. This form of central nervous system complication in AML has not been previously reported.

"Lysosomal" enzyme activities in red blood cells of normal individuals and patients with homozygous beta-thalassaemia.

Four hydrolases, beta-galactosidase, beta-glucuronidase, beta-N-acetylglucosaminidase and acid phosphatase were examined in red blood cells (RBC) of normal donors and patients with homozygous beta-thalassaemia. Highly sensitive fluorimetric substrates were used to determine the specific activities of these enzymes. In order to avoid contamination by lysosomal activities derived from white blood cells (WBC), the mature RBV were separated from other blood elements by cellulose chromatography.

Quantitative studies of ferritinlike iron in erythrocytes of thalassemia, sickle-cell anemia, and hemoglobin Hammersmith with Mössbauer spectroscopy.

By using the technique of recoil-free absorption (Mössbauer effect) in iron, we found large amounts of iron, yielding a well-defined spectrum different from that of oxy- or deoxyhemoglobin, in whole erythrocytes of 13 patients with beta-thalassemia major and intermedia, 3 with hemoglobin H disease, 2 with sickle-cell anemia, and 1 with unstable hemoglobin Hammersmith. The Mössbauer spectra at various temperatures of this additional component of iron were found to be identical to spectra obtained from isolated ferritin or hemosiderin. This observation, together with additional arguments, strongly suggests that the compound responsible for the additional subspectrum is an iron storage protein, ferritin or hemosiderin.

Globin synthesis in bone marrow cells of patients with sickle cell anemia and beta O-thalassemia: contamination of the beta-chain with non-globin proteins.

Chromatographic separation of labeled globin chains was performed in stroma-free hemolysates prepared from peripheral blood and bone marrow cells of 11 patients with beta O-thalassemia and 2 patients with sickle cell anemia. A small radioactivity peak, slightly preceding the beta-chain and more prominent in bone marrow cells, was often observed. This peak, which represents synthesis of non-globin proteins, did not exceed 5% of the radioactivity incorporated in the alpha-chain.

Acute promyelocytic leukemia in childhood. Report of a case with a review of the literature.

A rare case of acute promyelcytic leukemia (APL) is reported in a 7-year-old boy. The patient displayed the typical features of APL including impaction of the marrow with promyelocytes, marked elevation of the serum vitamin B12 and transcobalamin I levels and a hemorrhagic diathesis. The bleeding diathesis in the case was due to thrombocytopenia, and there was no evidence for disseminated intravascular coagulation.

Absence of functional beta-globin messenger RNA in Kurdish Jews with beta0-thalassemia.

Human globin messenger RNA was isolated from reticulocytes of four Jewish patients of Kurdish origin with homozygous beta0-thalassemia. On translation in the wheat-germ cell-free system, messenger RNA from these patients directed extensive synthesis of alpha- and gamma-globin chains, but synthesis of beta-globin chains was not detectable. In contrast, nonthalassemic human globin messenger RNA directed the synthesis of essentially equimolar amounts of alpha- and beta-globin.

Iron chelation in thalassemia: mechanism of desferrioxamine action.

The mechanism of iron chelation was studied in 16 patients with homozygous beta-thalassemia. Following the i.v.

Left ventricular function in beta-thalassemia and the effect of multiple transfusions.

Left ventricular performance was studied in 23 young patients with severe chronic anemia due to beta-thalassemia major and intermedia. The patients were divided into three groups according to the number of blood transfusions they had received. The left ventricle (LV) was enlarged in patients who had not received blood and larger still in patients who had received multiple transfusions.

Hydrolase activities in normoblasts of beta-thalassemic patients.

A physiological role for glycosidases in cell membranes has been suggested. Therefore the activities of four glycosidases--beta-galactosidase, beta-glucoronidase, N-acetyl-beta-glucosaminidase and acid phosphatase--were examined in normoblasts and membranes of red blood cells (RBC). The enzymatic assays were based on the hydrolysis of fluorimetric 4-methylumbelliferone from the enzyme substrate.

Non-specific serum iron in thalassaemia: an abnormal serum iron fraction of potential toxicity.

Iron binding in the sera of 35 patients with beta thalassaemia major and intermedia was studied. In patients receiving regular blood transfusions since infancy transferrin was completely saturated and about 2.7--7.

Absence of beta mRNA in beta0-thalassemia in Kurdish Jews.

We report the characterization of the amount of beta mRNA in a Kurdish Jewish population with beta0-thalassemia using the same methods employed for characterization of the Catania and Ferrara beta0 patients. We found very low amounts of beta mRNA sequences, consistent with the presence of beta0-thalassemia of the beta mRNA-negative population type. In addition, no globin gene deletion was detected that could account for the absence of beta mRNA.

Beta O-thalassemia intermedia.

Three patients with a relatively mild form of beta O-thalassemia who did not require regular blood transfusions are described. Globin synthesis was studied by gel filtration and urea-carboxymethylcellulose chromatography of stroma-free hemolysates prepared from peripheral blood and bone marrow cells labeled in vitro with 14C-leucine. gamma/alpha Synthetic ratios in peripheral blood were in the same range as in patients with the severe clinical form of beta O-thalassemia, while gamma/alpha synthetic ratios in bone marrow cells were higher than in that group of patients.

Gonadotrophin, thyrotrophin and prolactin reserve in beta thalassaemia.

Gonadotrophin (Gn), thyrotrophin (TSH) and prolactin (PRL) reserve was evaluated in patients (aged 12-26 years old) with beta thalassaemia. Abnormalities were detected in Gn reserve only. When compared with young adult controls, three of the four female patients and one of the two adult males had markedly impaired Gn responses to LH-releasing hormone (LHRH).

Characterization of the normoblast population in beta-thalassaemic blood by rapid-flow cytofluorometry.

Samples of peripheral blood from patients with beta-thalassaemia major which contained significant numbers of nucleated normoblasts were stained with acridine orange and analyzed with rapid-flow cytofluorometry. The pyknotic normoblast-nuclei gave less green 'DNA' fluorescence than the (diploid) leucocytes and constituted a separate, distinct subpopulation. Mean values of the fluorescence intensities and standard deviations as displayed by multichannel analyses gave a numerical value for normoblasts with regard to their maturation stages.

A noninvasive method for the evaluation of tissue iron deposition in beta-thalassemia major.

DXS, a noninvasive method for the analysis and quantitation of trace elements in different tissues, was applied to quantitate the degree of iron overload in the skin of 19 patients with beta-thalassemia major. The duration of the test is short, it is not associated with inconvenience to the patient, and it can be repeated at different times at different locations on the outer surface of the body. In patients who receive numerous repeated blood transfusions, there was a close correlation between the dermal iron content and the rate of transfusions when they exeeded 6 units of packed RBC per year.

Benign sickle cell anemia in Israeli-Arabs with high red cell 2,3 diphosphoglycerate.

Arabs living near the Sea of Galilee were found to be homozygous for hemoglobin S. Studies of solubility, mechanical precipitability, electrophoretic mobility on starch-gel and citrate agar media, minimum gelling concentration, and peptide mapping of the hemoglobin beta-chain confirmed complete identity of the hemoglobin with that found in Afro-American hemoglobin S homozygotes. A comparison of Arab Hb S homozygotes with Afro-American Hb S patients showed no significant differences in hemoglobin levels, red cell indices or morphology.