Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0039730 (thalassemia)
 10,305 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Hemoglobins C and N-Baltimore were detected in a 75-year-old black man. Although mild anemia and abnormal erythrocyte morphology resembling thalassemia were present, detection of this combination of hemoglobins at an advanced age suggests that it does not limit normal activities.
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PMID:A case with both hemoglobins C and N-Baltimore. 82 73

Hematology results from 3800 blood samples were examined for the presence of erythrocytic microcytosis. One hundred patients with electronically measured mean corpuscular volumes of 75 cubic microns or less were reviewed to determine the cause of microcytosis and evaluate recently described simplified techniques for separating thalassemia trait from other causes of microcytosis. The discriminant function formula of England and Fraser [MCV - RBC - (5 x Hgb) - 3.4] was found to be useful in uncomplicated patients with the Mediterranean type of thalassemia trait (betadegree) but less useful in the African type (beta+) of heterozygous beta-thalassemia. Anemias of chronic disorders were found to be a major cause of microcytosis. Microcytosis of no apparent cause was found in some children. Improved techniques in hemoglobin A2 quantification remain the best approach for detecting beta-thalassemia heterozygotes.
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PMID:Erythrocytic microcytosis: clinical implications in 100 patients. 87 Nov 34

The clinical hematologic change in 2 groups of progeny from mice carrying radiation-induced strain SEC alpha-chain deficiencies was found to be similar to the hematologic alterations in persons with alpha-thalassemia. The heterozygous deletion or inactivation of the alpha-chain gene in mice caused an anemia similar to alpha-thalassemina minor in persons. The alpha-chain deficiency in mice created an erythrocytosis, reticulocytosis, and microcytic, hypochromic anemia comparable with the changes in human alpha-thalassemia minor resulting from deletion of the alpha-chain gene. These mouse mutants are the only known animal models of human thalassemia. A comparison of hematologic values obtained from progeny possessing an alpha-chain gene deficiency and from progeny possessing a beta-chain duplication suggested that the deficiency of alpha-chain synthesis, rather than a simple imbalance between the amounts of alpha- and beta-chains produced, was primarily responsible for the altered hematologic characteristics in these alpha-thalassemic mice.
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PMID:Radiation-induced alpha-thalassemia in mice. 87 56

A pregnant patient with anaemia due to beta-thalassaemia trait is described. The patient was apparently of British stock.
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PMID:beta-Thalassaemia trait in a pregnant girl of British stock. 92 16

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

25-yr old female identical twins of Italian-American origin concordant for sickle beta-thalassemia were studied to explain their clinical differences. One of them has been severely affected from childhood with one aplastic crisis, an earlier onset of vaso-occlusive crises, and recent cardiac decompensation; the other twin shows no cardiac decompensation. Similar are their degree of anemia, RBC indices, blood volumes, absence of splenic sequestration, depression of pO2, elevation of p50 and 2,3-DPG, hemoglobin composition, and peripheral blood globin-synthetic rates. Regarding differences, the more severely affected has a shorter 51Cr RBC life span, a greater menstrual blood loss, and is more overweight, whereas the less severely affected has functional asplenia by 99mTc scanning and a larger proportion of RBC with decreased cellular deformability. We conclude that in sickle beta-thalassemia: (1) genotype alone does not determine the clinical course; (2) significant differences in clinical course can occur with almost identical hemoglobin composition and globin synthetic rates; (3) cellular deformability changes do not correlate exactly with clinical course; and (4) functional asplenia and leanness may be advantageous.
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PMID:Sickle beta-thalassemia: identical twins differing in severity implicate nongenetic factors influencing course. 98 45

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

Globin mRNAs were isolated from circulating reticulocytes both from rats carrying a homozygous, recessive mutation causing a severe thalassemia-like syndrome and from normal rats. After first identifying the rat globin chains as alpha or beta chains, the translational products primed by both polysomal and nonpolysomal mRNAs in wheat germ 30000 x g supernatant were analyzed: the ratio of alpha to beta globin mRNAs found in polysomes isolated from mutant rats is identical to the ratio of their products synthesized in vivo while the ratio of these mRNAs is quite different in the nonpolysomal fraction, the latter being enriched in alpha globin mRNA. No difference is found in the ratio of alpha and beta globin mRNAs in the polysomal and nonpolysomal RNA isolated from normal rats, both being identical to the ratio of their products synthesized in vivo. One third of the total amount of mRNA found in mutant cells is not in polysomes as compared to only 6 percent for the mRNA from normal lysates. These results suggest that a translational control mechanism is involved although the decreased globin synthesis in b/b anemia can not be fully accounted for by its operation.
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PMID:Rat b/b anemia: translation of normal and anemic globin mRNA in wheat-germ cell-free system. 100 56

Porotic hyperostosis was observed in 34 percent of 539 crania excavated from sites in Arizona and New Mexico. Common causes of this cranial pathology in the Old World (thalassemia, sickel cell anemia, and malargia) do not explain its occurrence in the American Southwest, as malaria and hemoglobinopathies are not known to have existed in the New World prior to European contact. Iron deficiency anemia which may also be assoicated with porotic hyperostosis occurs on a mass level only with hookworm infestation or nutritionally-related iron deficiency. Since hookworm infestation is rare in the American southwest and has not been reported in prehistoric southwestern American Indians, the hypothesis of nutritional anemia was examined. In canyon bottom sites where the diet was heavily dependent on maize, which is low in iron and also contains an inhibitor of iron absorption, significantly more crania had porotic hyperostosis than in sage plain sites, where the diet included ample animal protein rich in easily absorbable iron (p less than .001). Furthermore, canyon bottom children, who were more susceptible to iron deficiency anemia, had a higher incidence of porotic hyperostosis lesions than adults (p less than .0001).
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PMID:The paleoepidemiology of porotic hyperostosis in the American Southwest: Radiological and ecological considerations. 110 84


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