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

In hypochromic anaemias (heterozygous beta-thalassaemia and iron deficiency anaemia) ligher red cells lose more K+ than heavier ones, following incubation at 37 degrees C for 24 h. Both in the light and heavy fractions two subpopulations of cells with different permeability to K+ can be separated by a new centrifugation after incubation. On the basis of the results, a relationship between K+ permeability and probability of survival in hypochromic cells is suggested.
 ...
PMID:Permeability of membrane to potassium in hypochromic red cells with different specific density. 40 29

Iron deficiency anaemia secondary to menorrhagia was observed in a woman of Greek Cypriot origin. Moderate thrombocytopenia was also present. Treatment with parenteral and oral iron produced a transient thrombocytosis, the platelet count then returning to normal. Subsequent analysis revealed that she also carried the alpha1-thalassaemia trait. Previous reports of thrombocytopenia responsive to iron treatment are reviewed.
 ...
PMID:Thrombocytopenia and iron deficiency anaemia in a patient with alpha1-thalassaemia trait. Response to iron therapy. Case report. 41 76

Normal red blood cells, preincubated for 75 min with 1.15 mM menadione sodium bisulfite lose potassium and water on subsequent incubation at 37 degrees C for 24 h without menadione. The potassium loss is increased by addition of calcium and prevented by addition of glucose. Since normal red cells treated with menadione behave like untreated hypochromic cells, both from beta-thalassaemia or iron deficiency anaemia in respect to membrane permeability to potassium, it may be supposed that menadione induces in normal red cells an abnormality similar to that naturally occurring in hypochromic cells.
 ...
PMID:Increased potassium permeability induced in vitro by menadione in normal human red cells. 84 Dec 69

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.
 ...
PMID:Plasma iron and erythrocytic glutathione peroxidase activity. A possible mechanism for oxidative haemolysis in iron deficiency anemia. 96 43

The relationship of HbA2 to total Hb has been measured in 204 cases of Beta-Thalassaemia (beta-th-t) where the total Hb varied from 3.6 to 16 g/100 ml. The variation of total Hb in the study population was due, as far as could be defined, only to beta-th-t and a superimposed iron deficiency anaemia (IDA). Superimposed IDA decreases HbA2 proportionately more than it does total Hb (P less than 0.001). A not previously described relationship between HbA2 and total Hb was demonstrated and probably conformed to a second degree parabola.
 ...
PMID:Relationship between Hb and HbA2 concentrations in beta-thalassemia trait and effect of iron deficiency anaemia. 103 47

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).
 ...
PMID:The paleoepidemiology of porotic hyperostosis in the American Southwest: Radiological and ecological considerations. 110 84

In a total group of 415 subjects (100 normal controls, 115 with iron deficiency anemia, 100 with the alpha-thalassemia trait, and 100 with the beta-thalassemia trait), the following indexes were analyzed: hemoglobin distribution width, red blood cell distribution width (RDW)-coefficient of variation, and RDW-SD. The hemoglobin distribution width and RDW-coefficient of variation were examined with a laser light scattering system (Technicon H1), whereas the RDW-SD was determined with an impedance autoanalyzer (Sysmex M-2000). All of these parameters helped, to some extent, in the differential diagnosis of microcytic anemia. However, our data suggested a low RDW-SD might provide significantly more value in differentiating thalassemia traits from iron deficiency anemia, as well as from normal controls, while the hemoglobin distribution width gave no help in the differential diagnosis between iron deficiency anemia and the beta-thalassemia trait.
 ...
PMID:Comparison of hemoglobin and red blood cell distribution width in the differential diagnosis of microcytic anemia. 141 42

Anemia in Israel is prevalent in nursing infants but there are few data on its prevalence in children aged 3-6 years. In 436 children in this age group in 18 family practice clinics in the Jerusalem area a hemoglobin level of less than 11.0 g% was found in only 17 (3.9%). Age, sex, and suburban versus urban residence were not related to the incidence of anemia. In 74 children (17%) the average mean red cell volume (MCV) was less than 74 fl but it was not associated with low hemoglobin. This finding might indicate the presence of thalassemia or a predisposition to the development of iron deficiency. This group of children is at risk of developing iron deficiency anemia and therefore requires follow-up. Results of blood tests at ages 9-12 months were available in 198 of the children but the results were not of high predictive value for the development of iron deficiency at 3-6 years of age. Iron supplementation administered to them when nursing did not affect the incidence of anemia in the children studied.
 ...
PMID:[Anemia in Jerusalem children aged 3-6 years]. 146 78

In order to reassess the need for iron chelation therapy in nontransfused patients with beta-thalassemia intermedia, serum ferritin level and ferrous iron absorption from the gastrointestinal system were measured in 43 (23 male and 20 female) patients (mean age 13.4 +/- 7.5). The mean hemoglobin value was 8.6 +/- 1.3 g/dL and serum ferritin 303 +/- 207 ng/mL. Absorption of ferrous iron salt was determined in 21 patients by measuring serum iron before and 3 hours after giving ferrous salt orally at 1 mg/kg. The means of the increase in serum iron values were 39 +/- 45, 105 +/- 46, and 224 +/- 112 micrograms/dL in patients with beta-thalassemia intermedia, normal subjects, and patients with iron deficiency anemia respectively. Differences in the means in three groups were significant (p < 0.001). This study shows that iron absorption from the gastrointestinal system as ferrous salt is not accelerated in patients with beta-thalassemia intermedia. The serum ferritin level in these patients is not high enough to necessitate iron chelation therapy.
 ...
PMID:Reevaluation of iron absorption and serum ferritin in beta-thalassemia intermedia. 146 69

In thalassemia erythrocyte cation permeability is increased, but the increment in ATPase-dependent cation pumps maintains normal concentrations of Ca++, Na+ and K+. In this study we investigated erythrocyte concentrations of Mg++ in heterozygous beta-thalassemia and in microcytic sideropenic anemia. Twenty-five healthy controls, 40 heterozygous beta-thalassemics and 25 patients with sideropenic anemia were studied. Erythrocyte Mg++ was assayed either by atomic absorption or by standard laboratory methods. Erythrocyte Mg++ was significantly lower in the beta-thalassemia group than in the other two groups (p less than 0.001). Serum magnesium was significantly lower in sideropenic anemia patients than in beta-thalassemics and in controls (p less than 0.01), whereas these latter two groups showed similar values. Our results suggest that the increment in ATPase-dependent cation pumps is not sufficient to maintain normal erythrocyte Mg++ concentrations in heterozygous beta-thalassemia. In sideropenic anemia cation permeability is not increased, therefore erythrocyte Mg++ is normal. Low serum Mg++ levels in sideropenic anemia could be explained by a primary Mg++ deficit associated with sideropenia.
 ...
PMID:Serum and erythrocyte levels of magnesium in microcytosis: comparison between heterozygous beta-thalassemia and sideropenic anemia. 166 66


1 2 3 4 5 6 7 8 9 10 Next >>