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

This study establishes the prevalence and distribution of an MCV less than 80 fl by review of the Coulter indices of 7887 samples. Retrospectively, 146 patients are studied and the relationships between the low MCV, film microscopy, iron status, and clinical diagnosis assessed. Plasma ferritin measured radioisotopically in 100 patients is compared to serum iron and iron binding capacity values and some of the problems of assessing iron stores are discussed. The discriminant formulae devised to differentiate between the microcytosis of thalassaemia trait and that or iron deficiency are found to be of limited value when applied to the red cell indices of a hospital population.
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PMID:The low mean cell volume in routine haematology. 54 44

This report deals with a large German family in which 12 carriers of the trait had the characteristic hematologic abnormalities of thalassemia minor. Among these are increased red cell count, decreased hemoglobin content, microcytosis and marked hypochromia in the presence of normal or increased serum iron levels. Thalassemia should always be considered if these hematologic abnormalities are found. It probably occurs more often in central Europe than thought of hitherto.
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PMID:[Heterozygous beta-thalassemia in a large German family]. 55 16

Homozygous beta-thalassaemia is a disease in which there is a progressive iron overload from infancy to death in early adulthood. Liver biopsies from 10 patients in various stages of this disease were examined by electron microscopy. A number of round or oval lysosomal structures, containing lamellae different from myelin figures, were seen in all patients, including those with minimal iron overload. Ferritin molecules were seen either in relationship with the lamellae forming arrays, or in paracrystalline arrangement, or with no organized form. There were practically no ferritin molecules in sub-cellular compartments other than cell sap and lysosomes. The density of cell sap ferritin was constant beyond infancy, but the number of iron-laden lysosomes increased with age. The stages in the process of iron seclusion, seen even in advanced phases of iron overload, are described. Ferritin is thought to accumulate in lysosomes by a transmembraneous movement, but other explanations are considered.
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PMID:Ferritin in human liver cells of homozygous beta-thalassaemia: ultrastructural observations. 60 78

1. Urinary iron excretion after desferrioxamine has been examined in nine patinets with different iron-loading anaemias. Particular attention has been paid to individual variation in response and the kinetics of iron removal in order to determine the most efficient and convenient method of administration. 2. Twelve-hour subcutaneous infusions of desferrioxamine were comparable with intravenous infusions and gave a mean value of 62% more iron excretion than similar intramuscular bolus doses (range 20--125%). 3. Increasing doses as 12 h subcutaneous infusions produced a linear increase in iron excretion, which was followed by a tendency to reach a plateau. Iron excretion varied greatly between patients, was not related solely to age or estimated iron load, and in most cases was increased by ascorbic acid saturation. 4. Maximum iron-excretion rates were achieved after 3--6 and then maintained throughout an infusion. With bolus injections excretion rates declined rapidly after the first 6 h, during which approximately 60% of the total iron excretion occurred. 5. The dose and method of administration should be 'tailor-made' for each patient. Overnight 12 h subcutaneous infusions can be both as effective as similar doses given over 24 h and a practical way of achieving substantial negative iron balance. 6. Since children receiving regular blood transfusions for congenital anaemias such as thalassaemia usually die at the end of the second decade, this approach to iron chelation offers the possibility of alleviating what have hitherto been fatal-iron loading states.
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PMID:Intensive iron-chelation therapy with desferrioxamine in iron-loading anaemias. 62 May

The effect of polytransfusion regimen is studied in two patients with thalassaemia major over a period of 74 and 56 months respectively. In both cases we have observed an improvement of the general condition in the growth as well as a reduction of hepatosplenomegaly and cardiomegaly. Furthermore a decrease of reticulocytes, erythroblasts and fetal hemoglobin values was obtained. The consequences of these frequent transfusions on iron storage metabolism are discussed. The advantage of giving HLA compatible blood is demonstrated by only a weal alloimmunization in one patient having received 77 HLA compatible transfusions and the lack of immunization in the second patient after 52 transfusions. In 6 other patients affected with thalassaemia major and 3 more with bone marrow aplasia, transfusion with incompatible HLA blood was followed by immunization of variable importance.
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PMID:Multiple transfusions of HLA compatible blood in thalassaemia major. 63 9

The predictive value of a prolonged glycerol lysis time (GLT50) was assessed by analysis of case records of 100 consecutive subjects with values greater than 73 seconds (normal = 26--73 seconds) reported by the clinical laboratory of The New York Hospital. There were 72 cases of hemoglobinopathy: 65 thalassemia trait, four sickle-thalassemia, and one each of Hb D-thalassemia, sickle-C disease, and sickle-cell anemia. Nine of the remaining subjects had iron-deficiency anemia, three had chronic renal disease, and seven had miscellaneous disorders. Four subjects were apparently normal, and in five cases there was insufficient information for a diagnosis. Of 78 patients who had both a prolonged GLT50 and microcytosis, 67 (86%) had thalassemia trait and seven (9%) had iron-deficiency anemia. In 74 patients with GLT50 greater than 100 seconds, thalassemia trait was found 16 times as often as uncomplicated iron-deficiency anemia. All 31 subjects with GLT50 greater than 180 seconds had hemoglobinopahy. A prolonged GLT50 strongly suggests thalassemia trait, especially when greater than 100 seconds or associated with microcytosis.
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PMID:The diagnostic significance of a prolonged erythrocytic glycerol lysis time (GLT50). 70 32

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--7.1 mumol/l of the serum iron could be removed by dialysis or ultrafiltration in the presence of a chelating agent or by filtration on DEAE-Sephadex-catecholdisulphonic acid columns. In contrast, less than 1.0 mumol/l of transferrin bound iron was removed when subjected to the same procedures. The non-specific iron of thalassaemic sera could no longer be demonstrated after incubation with normal serum. These findings indicate that non-specific iron is a chelatable with normal serum. These findings indicate that non-specific iron is a chelatable compound which is readily available for transferrin binding. In view of the known toxicity of unbound iron, its identification in thalassaemic sera might be of relevance to the pathogenesis of tissue damage and the protective effect of iron chelating therapy in this disease.
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PMID:Non-specific serum iron in thalassaemia: an abnormal serum iron fraction of potential toxicity. 70 45

The diagnostic and therapeutic problems connected with beta-thalassaemia minor during pregnancy are demonstrated by describing the cases of 26 women hospitalised during a total of 38 deliveries in the authors' clinic. All patients came from the Mediterranean area and showed the disease pattern of beta-thalassaemia minor both in the erythrocyte count and in haemoglobin electrophoresis. This aenemia, which is rather rare, reamined largely constant, with few exceptions. Iron substitution during pregnancy was effected only if an iron deficiency was found, the iron level in the serum being subjected to repeated control examinations. These risk pregnancies were controlled by CT scanning, mainly to detect any possible foetal hypoxia caused by aenemia. There was no increased incidence of deformities of the newborn, nor of premature births. However, there was a slight increase of the mean placental weight. This hypertrophy was probably the manifestation of a compensation mechanism. The proportion of slightly depressed newborn was also increased. The importance of examining the partner as well, is emphasised.
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PMID:[Medical care of pregnant women with beta-thalassaemia minor, including care during delivery (author's transl)]. 73 72

The mechanism of iron chelation was studied in 16 patients with homozygous beta-thalassemia. Following the i.v. infusion of desferrioxamine, chelated iron accumulated in the plasma and its maximal level at 2 h was closely correlated with the 24-h excretion of iron in the urine. The high specific activity of chelated urinary iron indicated that the chelatable pool was much smaller than the total storage iron pool and was probably derived from nonviable red blood cells in the reticuloendothelial system. This postulate was confirmed by the direct measurement of specific activities in the spleen and liver, revealing identical values of chelated urinary iron and of iron in reticuloendothelial tissues. These findings support the concept of an easily chelatable iron pool that is derived from the catabolism of hemoglobin.
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PMID:Iron chelation in thalassemia: mechanism of desferrioxamine action. 75 May 35

The diagnostic value of serum ferritin measurements in discriminating iron-deficiency anemia from thalassemia trait has been studied. In contrast to serum iron, percent transferrin saturation and total iron-binding capacity, where a high degree of overlap existed between the two groups, a clear-cut difference in serum ferritin levels was found between iron deficiency and thalassemia trait. The best separation of iron deficiency, thalassemia and normal controls was given by the combination of mean corpuscular volume and serum ferritin. Although definitive diagnosis of beta-thalassemia trait requires the demonstration of abnormal Hb A2 levels or beta-chain synthesis, serum ferritin is a useful screening test for the initial diagnosis of thalassemia trait. Because of the very small amounts of serum required for the measurement of ferritin, it is particularly suitable for surveying populations with a high prevalence of hypochromic-microcytic anemias.
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PMID:Serum ferritin in beta-thalassemia trait. 75 May 37


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