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

The ultrastructure of sinusoidal cells was studied in 18 liver biopsies from patients with homozygous beta-thalassemia. No conspicuous iron was seen in sinusoidal cells from biopsies obtained before transfusion therapy was initiated, although electron-dense iron was present in some parenchymal cells. Biopsies following the high transfusion regime showed progressive increase in the size and number of iron-containing lysosomes in both parenchymal and sinusoidal cells. This study confirms the view that transfusional iron is largely segregated in reticuloendothelial cells. Examination of stained and unstained sections showed the Kupffer cells and endothelial cells had different types of iron-containing lysosome that were also dissimilar from most iron-containing lysosomes seen in hepatocytes. The described cell-specific morphological features of the lysosomes facilitate the identification of various cells during iron overload. The importance of phagocytic sinusoidal cells during chronic iron overload is stressed.
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PMID:Hepatic sinusoidal cells in iron overload. Ultrastructural observations. 75 May 49

This article describes recent views about patophysiology of thalassemia, and deals with a case of thalassemia major in a 6-month infant from the continental part of Croatia. Based on literature data, therapy included frequent transfusions of blood so as to correct anaemia to the level enabling the child to develop and interact with his environment as normally as possible. Administration of desferioxamine promoted excretion of iron in urine and decreased its concentration in serum.
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PMID:[Thalassemia major (with a case report of a 6-month-old patient)]. 75 90

To determine the hemoglobin concentration at which iron absorption is minimal, five subjects with thalassemia major and one with thalassemia intermedia underwent a series of iron-absorption studies. The effect of tea as an inhibitor of non-heme iron absorption was also tested. Iron absorption increased as the hemoglobin concentration decreased, although iron absorption was much higher at any given hemoglobin level in the subject with thalassemia intermedia. In the subjects with thalassemia major, iron absorption averaged 10 per cent at hemoglobin concentrations between 9 and 10 and 2.7 per cent between 11 and 13 g per deciliter. The percentage of iron absorbed could be accurately predicted from the nucleated red-cell count (r = 0.91, P less than 0.001). Tea produced a 41 to 95 per cent inhibition of iron absorption. Since patients with thalassemia intermedia may absorb a large percentage of dietary iron, inhibitors of iron absorption, such as tea, may be useful in their management.
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PMID:Iron absorption in the thalassemia syndromes and its inhibition by tea. 75 74

We have determined serum Zn, Fe, Cu and Mg in 42 patients aging from 3 months to 22 years with homozygous beta-thalassemia and thalassemia intermedia and in 36 control subjects of the same ages. Serum zinc was significantly decreased. Serum copper and iron were increased, but magnesium was found to be at normal levels.
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PMID:Changes of trace minerals (serum iron, zinc, copper and magnesium) in thalassemia. 80 39

Globin synthesis studies are useful in the analysis of thalassemia syndromes. We have applied globin synthesis and free alpha-chain pool studies of peripheral blood to characterize hematologic disorders where alpha- or beta-thalassemia was present in combination with HbS or HbC. In 60 non-thalassemic controls, the beta/alpha specific activity ratio was 1.01 +/- 0.06 (SD). In three patients with HbS-beta0-thalassemia, the (betas + gamma)/alpha ratios were 0.48-.067. In four patients with HbSS-alpha-thalassemia, the (BETAS/ALPHA RATIO was 1.26 +/- 0.18 (1.13-1.53). The radioactive free alpha-chain pool in three patients with HbS-beta0-thalassemia was elevated (35.1%-53.0%), while three patients with HbSS-alpha-thalassemia had decreased free radioactive alpha-chain pools (3.2%-6.4%); both were significantly different from the mean (15.1% +/- 2.6%) of the 17 iron-sufficient controls. Simultaneous studies of the fraction of newly synthesized alpha chain contained in the free alpha-chain pool in peripheral blood and bone marrow demonstrated that this fraction was larger in peripheral blood than in marrow, and that the differences between thalassemia patients and controls previously found in bone marrow using these methods were also present in peripheral blood. The results indicate that even when family studies are not possible, patients with HbS in combination with alpha- or beta0-thalassemia can be differentiated from those with homozygous sickle cell disease by globin synthesis and free alpha-chain pool studies using peripheral blood.
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PMID:Detection of sickle alpha- or beta0-thalassemia by studies of globin biosynthesis. 85 59

The frequency of thalassemia was determined in a group of 541 healthy adult black males. Individuals with decreased mean corpuscular hemoglobin (MCH) values were evaluated further with hemoglobin analysis, iron studies, and globin chain synthesis. Of the males screened, 13.4% had MCH levels below 27.0 pg, while 1.4% had heterozygous beta thalassemia, 2.3% had iron deficiency, and 5.7% had globin synthesis findings compatible with the diagnosis of alpha thalassemia trait (alpha thalassemia-1). This study suggests that thalassemia is one of the most frequent hematologically depictable abnormalities in American blacks.
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PMID:Frequencies of thalassemia in American blacks. 86 79

A 25 year old woman with congenital dyserythropoietic anemia (CDA) Type I is described. Typical morphologic abnormalities of the erythroid precursors in the bone marrow by light and electron microscopy, marked ineffective erythropoiesis and iron loading were present, Globin chain synthetic ratios as well as functional and structural studies on the patients hemoglobin were normal, ruling out the presence of thalassemia or a mutant hemoglobin which can both give rise to morphologic and clinical features similar to CDA. The laboratory findings on this patient and family members and a brief review of the literature are presented.
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PMID:Biosynthetic and structural studies of hemoglobin in a patient with congenital dyserythropoietic anemia type I. 91 41

The incorporation of [15N]delta-aminolaevulinic acid and [15N glycine into haemoglobin haem and early labelled bilirubin was measured in subjects with various haematological disorders. The clearance of [14C bilirubin was used to measure bilirubin production rate, and the magnitude of the various sources of bilirubin production and the percentage ineffective erythropoiesis were calculated. Ineffective erythropoiesis was found to be a major factor in the production of the anaemia in patients with the following disorders: megaloblastic anaemia associated with the Lesch-Nyhan syndrome, thalassaemia intermedia, sideroblastic anaemia, and the anaemia of chronic disorders. In three patients with iron-deficiency anaemia ineffective erythropoiesis was increased, but was of minor importance in the production of the anaemia, while in two patients with aplastic anaemia and one with macrocytosis of alcoholism there was no increase in ineffective erythropoiesis.
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PMID:Quantitation of ineffective erythropoiesis from the incorporation of [15N] delta-aminolaevulinic acid and [15N] glycin into early labelled bilirubin. II. Anaemic patients. 95 67

The red cell glutathione-peroxidase (GSH-Px) activity of 9 normal subjects is compared with that of 15 cases of iron deficiency anaemia and with 13 cases of heterozygous beta-thalassemia with the same degree of anaemia and hypochromia. 2 cases of sideroblastic anaemia with high serum iron levels were also examined. Enzymatic activity was found to be significantly decreased in iron deficiency anaemia (about 55% of normal range), while it was not affected in heterozygous beta thalassaemia and it was increased in the 2 cases of sideroblastic anaemia. Moreover, GSH-Px activity exhibited a significant correlation with serum iron levels in all the patients studied. The observed modifications in GSH-Px activity are not correlated with erythrocyte ageing because reticulocyte-poor fractions exhibited GSH-Px activity which was not significantly reduced in respect of the reticulocyte-rich ones. These data seem to suggest that iron has a crucial connection with erythrocyte GSH-Px and that the enzyme deficiency may be of some importance in explaining the decreased red cell survival observed in severe iron-deficiency anaemias.
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PMID:Plasma iron and erythrocytic glutathione peroxidase activity. A possible mechanism for oxidative haemolysis in iron deficiency anemia. 96 43

Microcytic red blood cells (RBC) occur in iron-deficiency anemia, lead poisoning, and the thalassemia syndromes. Micromeasurement of FEP by acid extraction from RBC was performed on RBC of 64 subjects with RBC mean corpuscular volume less than 78 fl as determined on a Coulter S. FEP was also determined on RBC from 25 nonanemic, normocytic subjects for comparison. The 25 nonanemic subjects, 29 subjects with alpha-thalassemia trait and 16 subjects with beta-thalassemia trait had FEP less than 107 mugm/100 ml RBC. Nineteen microcytic subjects with iron-deficiency anemia had FEP of 185--752 mugm/100 ml RBC. Hemolysates from 8 lead intoxication individuals had FEP values similar to those of iron-deficient patients. The fluorescence emission spectra of lysates with high FEP, which were not extracted, were similar in iron deficiency and lead poisoning. The porphyrin that accumulates in these two conditions appears to be zinc protoporphyrin. Micromeasurement of FEP can be used to initially classify microcytic anemias into either a disturbance of globin synthesis or a disturbance in heme synthesis. Iron-deficiency anemia and lead poisoning cause accumulation of identical prophyrin and cannot be distinguished by fluorometric analysis.
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PMID:Classification of microcytic anemia by fluorometric analysis of free erythrocyte porphyrins (FEP). 100 85


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