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Query: UMLS:C0039730 (thalassemia)
 10,305 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Iron overload was found in 3 patients who had undergone partial gastrectomy: a 61-year-old woman developed iron overload because she may have had idiopathic haemochromatosis and had also been given parenteral iron; in a 62-year-old man with thalassaemia minor, iron overload may have developed because of increased oral iron ingestion, low serum folate, increased, albeit ineffective, erythropoiesis and sideroblastic anaemia; a 74-year-old man with thalassaemia minor developed iron overload without exogenous therapy and died from a hepatoma. These cases illustrate that partial gastrectomy fails to protect patients from developing iron overload, particularly if given uncontrolled iron therapy.
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PMID:Iron overload despite partial gastrectomy. 53 65

The expression "congenital dyserythropoietic anemia" (CDA) has been used to characterize the kinetic and morphological aberrations in the proliferation and maturation compartment of erythropoiesis, occurring in a group of hereditary anemias of unknown pathogenesis. The main symptoms of these disorders are moderate or mild anemia, increased hemoglobin turnover, ineffectiveness of erythropoiesis, striking morphological aberrations of the erythroblasts and tendency to secondary hemochromatosis. To date, three types have emerged from this group that may be hereditary nosological entities. They are distinguished not only on a morphological basis, but also by different modes of inheritance and immunological properties of the red cell membrane. A number of additional cases or families have been described which could not be attributed to one of these three types. Comparative investigations of morphological, biochemical and immunological details in CDA on the one hand, and other forms of ineffective erythropoiesis (e.g. thalassemia, refractory anemia) on the other demonstrate the lack of specificity of many of the single changes observed in CDA. These changes may well be secondary phenomenon of intramedullary cell destruction brought about by different underlying pathogenetic mechanisms.
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PMID:[Dyserythropoiesis and dyserythropoietic anemias]. 120 18

The authors report on a 24-year old patient with Blackfan-Diamond syndrome who developed a Hodgkin's disease. This patient became transfusion-dependent at the age of 10, after an initial period of corticosensitivity, and after failure of androgens. He developed hemochromatosis despite from parenteral chelation therapy. He died of infectious complications 4 months after the diagnosis of Hodgkin's lymphoma. A review of the literature shows an increased incidence of malignancies in Blackfan-Diamond syndrome (three cases of leukemia), and in similar disease (thalassemia and sickle cell disease), but not in other patients with hemosiderosis (primitive hemochromatosis, end-stage renal failure under dialysis). Etiopathogenic hypotheses are discussed.
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PMID:[Blackfan-Diamond disease and malignancy: cause effect relationships?]. 133 66

A 64-year-old man was admitted due to ascites. Laboratory data showed hemoglobin 6.7 g/dl, mean corpuscular volume 82 fl, and ferritin 2,360 ng/ml. Liver biopsy showed hemochromatosis. The diagnosis of beta-thalassemia was suggested by a decreased ratio of beta/alpha-globin synthesis in vitro (0.26). Cloning of the beta-globin gene showed A-to-G mutation in the first base of the ATA box. He was confirmed to be homozygous for this specific allele by beta-gene complex analysis and analysis of Southern blot hybridization of the alpha- and beta-globin genes. His two sons were confirmed to be heterozygous for this allele.
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PMID:Beta(+)-thalassemia with hemochromatosis. 136 99

A patient with thalassemia minor (TM) is reported who ingested 80 g of alcohol/day and presented an important overload of iron with deposits and a hepatic iron ratio compatible with primary hemochromatosis. The results obtained from the study of histocompatibility antigens, clinical manifestations and family analysis discarded the possibility of two genetic diseases, beta-thalassemia and primary hemochromatosis, being concomitantly present in the same progeny. Thalassemia minor and alcoholic hepatopathy are considered as having acted together and being responsible for the iron overload. The relation between alcohol ingested, TM and iron deposits is discussed.
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PMID:[Thalassemia minor with iron overload: genetic and clinical study of a family]. 176 61

Serum ferritin spectrotypes from patients heterozygous for beta-thalassaemia were determined after agarose isoelectric focusing followed by radio-immunofixation with anti-ferritin antibody. Multivariate analysis demonstrated a specific spectrotype for heterozygous beta-thalassaemia. This spectrotype was shown to be different from those in hereditary spherocytosis and idiopathic haemochromatosis. Statistical discrimination reached 100% of well-classified patients between these pathological conditions.
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PMID:Serum ferritin spectrotypes in patients with heterozygous beta-thalassaemia. 204 59

A clinical and haematological study of 75 patients with beta-thalassemia/haemoglobin E (HbE) in Vietnam is described. The clinical picture is similar to thalassemia major. Anemia is often severe, haemoglobin was 5.0 +/- 1.6 g/dl. Splenomegaly was almost consistently detected. Haemochromatosis was clear. Both red cell indices and morphology showed hypochromicity and microcytosis, the MCH was 23.3 +/- 2.9 pg, the MCV was 81.5 +/- 11 fl; anisocytosis, poiklocytosis, tear drop cells, leptocytosis, target cells, and polychromasia were always observed. The osmotic fragility of erythrocytes was increased. The erythrocytic lifespan was shortened, about 7-15 days and the erythrocytes were destroyed in the spleen in 63 per cent of cases. Depending on whether it was beta(+)-thalassemia/HbE or beta(0)-thalassemia/HbE, HbF ranged from 22.8 +/- 7.2 to 57 +/- 12.7 per cent; HbE from 30.1 +/- 12.2 to 42.7 +/- 13 per cent; and HbA1 was decreased down to from only 46.8 +/- 13.5 to 0 per cent.
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PMID:Beta-thalassemia/haemoglobin E disease in Vietnam. 231 82

A standard magnetic resonance imaging (MRI) system allowing spin echo times of 10 ms was used to quantitate liver iron concentration in nine healthy normal subjects and 13 patients with various grades of iron overload. Body iron status was estimated by measuring the serum ferritin concentration. In 11 subjects (two normal healthy controls, eight patients with HLA-related hereditary haemochromatosis and one patient with thalassaemia major) non-haem hepatic iron concentration was determined chemically in biopsy specimens (dry weight), in parallel to serum ferritin and MRI-T2 relaxation times. A moderate correlation (r = 0.79) was obtained for the correlation of the T2-relaxation rate (1/T2) and serum ferritin of the 22 subjects investigated. A much closer correlation (r = 0.98) was observed for the 1/T2 liver iron relationship in the 10 subjects analysed by liver biopsy. It is concluded from these preliminary observations, that MR-imaging may provide a useful non-invasive tool for the quantitative determination of liver iron in iron overload-syndromes.
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PMID:Non-invasive quantitation of liver iron-overload by magnetic resonance imaging. 233 43

During the years 1982-1987, 66 patients with homozygous beta-thalassaemia were treated at the blood transfusion centre of Algiers. The patients, aged from 1 to 23 years in 1982, came from 48 families, 30 of which were issued from consanguinous unions. The patients fell into three groups according to the early institution and quality of treatment (blood transfusions, antibiotic therapy, desferrioxamine given when available). The beneficial clinical effects observed (satisfactory growth and development, reduction of splenomegaly and hypersplenism, attenuation of craniofacial malformations, performance at school) seemed to be directly related to the mean haemoglobin level prior to transfusion and to the early institution of treatment. Four patients died of anaemia and haemochromatosis. The incidence of viral contamination was 27.5 per cent for the hepatitis B virus and nil for the human immunodeficiency virus.
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PMID:[Treatment of homozygote beta thalassemia in Algiers. A 5-year follow-up of 66 patients]. 252 93

Since freshly obtained acute lymphoblastic leukemia (ALL) cells rarely replicate spontaneously in vitro in a sustained way, development of a useful clonogenic assay for ALL blast progenitors is dependent on identifying the cellular growth requirements. Thus, marrows from 25 ALL cases were cultured in methylcellulose to determine the optimal conditions for cell growth. Blast colonies were confirmed as leukemic by morphology, cytochemistry, surface markers, and cytogenetics. Irradiated (7000 rads) normal peripheral blood feeder cells were an absolute requirement and produced number-dependent increases in ALL colonies; added growth factors enhanced the feeder cell effect. ALL cell-feeder cell contact was essential since their physical separation in a two-layer culture system drastically interfered with colony growth. Feeder cells from various donors, including new and relapsed cases of ALL, yielded colony numbers that differed widely when tested on the same marrow with and without added growth factor; thus, identification of a "good" feeder cell donor was key to an optimal assay. Neither recombinant interleukin-2 nor recombinant GM-CSF had ALL growth-promoting properties when tested alone or in combination but in the presence of feeder cells they moderately enhanced the feeder cell effect. The most effective growth factors were derived from cells exposed to phytohemagglutinin (PHA) for 72 h. In order of magnitude for colony growth-promoting activity, PHA-T cell conditioned medium (CM) was more stimulatory than PHA-blast cell CM followed by PHA-leukocyte CM; removal of PHA from CM by affinity chromotography did not alter the results. The most potent PHA-TCM was prepared from T-cells from a phlebotomized hemochromatosis patient; PHA-TCM from transfused thalassemia patients and normal donors were less active. Concanavalin-A blast cell CM had modest colony promoting properties whereas CM prepared with other B-cell mitogens and supernatants from ALL blasts in liquid culture had none. Our studies illustrate the complex and fastidious growth needs of ALL cells. The data have allowed us to refine a clonogenic blast progenitor assay that should facilitate study of proliferative properties of B and T lineage leukemias. The assay could be adapted further for detection of residual leukemia cells in marrow samples used for autologous transplantation, and in patients during complete hematological "remission."
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PMID:Growth requirements for human acute lymphoblastic leukemia cells: refinement of a clonogenic assay. 304 51


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