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)

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

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

beta-Thalassemia is a major public health problem in Algeria. During a survey, a family including two cases of betaO-thalassemia was studied. The family study indicated that two of the affected siblings had homozygous beta-thalassemia; there were also both normal and heterozygous siblings, and both parents had beta-thalassemia trait. In the two cases of betaO-thalassemia there was no hemoglobin A in the peripheral blood, and no beta-globin chain synthesis in whole cell incubations. Hybridization of purified complementary DNA specific for alpha- and beta-globin messenger RNAs demonstrated less than 1% mRNAbeta relative to mRNAalpha in circulating reticulocytes, and for one case in total RNA from bone marrow. There is no apparent beta-globin gene deletion as determined by hybridization in globin cDNAbeta sequence excess. Therefore the Algerian cases studied are similar in molecular pathology to some Southern Italian and Asian cases described previously, and differ from other Italian and Chinese betaO-thalassemias, in which hybridizable mRNAbeta has been demonstrated, and from deltabetaO-thalassemia, which is caused by a gene deletion.
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PMID:beta-O-thalassemia from Algeria: genetic and molecular characterization. 88 23

Glutathione peroxidase (GSHPx) activity was found to be greatly elevated in members of a family with alpha-thalassemia. Eleven other families with proven alpha-thalassemia were investigated, and all but one subject with hemoglobin H disease had increased red cell GSHPx. Most persons with alpha-thalassemia trait also had increased activity of red cell GSHPx. In contrast, only very modest increases in glutathione peroxidase activity were observed in subjects with various forms of beta-thalassemia.
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PMID:Increased glutathione peroxidase activity in alpha-thalassemia. 90 38

A number of patients of Mediterranean and Asian origins were found to have unexplained microcytic hypochromic red blood cells. Iron deficiency and beta-thalassaemia trait were both satisfactorily excluded in all of them. The haematological indices of these patients, obtained on a Coulter Model 'S' Counter, were found to be very similar to those seen in obligatory heterozygotes for alpha-thalassaemia. It is postulated that these patients were also carriers for alpha-thalassaemia. Subsequent investigation of some of these patients showed the characteristically reduced rates of alpha-chain synthesis seen in this condition. The discriminant function of England and Fraser (1973) may be of help in diagnosing this state. alpha-Thalassaemia trait should be considered in all patients of 'high-risk' ethnic origins with a blood picture suggestive of beta-thalassaemia trait but in whom the levels of Hb A2 and Hb F are within normal limits.
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PMID:Diagnosis of alpha-thalassemia trait from Coulter Counter 'S' indices. 91 18

A previously unrecognized hypochromic anemia associated with marked normoblastemia during the newborn period is reported. One male and two female siblings and a first cousin had a hypochromic anemia and marked normoblastemia (300 to 900 normoblast index per 100 white blood cells) at birth. Globin chain synthesis studies on peripheral blood of the proband at birth indicated the presence of alpha-thalassemia trait with possible reduced gamma chain synthesis. Studies of globin chain synthesis on the father, two older affected siblings of the proband, and the proband at 1.5 years of age revealed alpha-thalassemia trait. The data suggest this complex alpha-thalassemia-like condition as a new syndrome associated with marked neonatal normoblastemia.
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PMID:Complex alpha-thalassemia-like syndrome: a cause of neonatal normoblastemia. 95 73

We attempted prenatal diagnosis of hemoglobinopathies in 15 cases--11 for beta-thalassemia and four for sickle-cell disease. Fetoscopy was used in seven cases, and placental aspiration in eight. One premature labor, with fetal loss, followed placental aspiration. Globin synthesis was assessed by incubation of samples with 3H-leucine and chain separation on carboxymethylcellulose columns. Homozygous disease was predicted in two pregnancies, which were interrupted, and the diagnosis confirmed. In one case homozygosity was suspected. A repeat test was advised but not accepted. The fetus had thalassemia trait. One pregnancy was interrupted despite our prediction of thalassemia trait. Eight pregnancies went to term. Seven predictions that the infants would not have homozygous disease were confirmed. One prediction of sickle trait proved to be sickle-cell disease. Although prenatal diagnosis of hemoglobinopathies is feasible, the present frequency of fetal loss and diagnostic error indicates need for improvement.
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PMID:Prenatal diagnosis of hemoglobinopathies. A review of 15 cases. 99 41

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

To determine whether beta-thalassemia can be detected in the fetus, blood was obtained from abortuses of normal mothers and of mothers with beta-thalassemia trait. The red cells were incubated with radioactive leucine and the globin chains were analyzed by radiochromatography. Two independent methods were utilized to correct the results for contamination by maternal radioactive beta-chain, and the corrected beta/gamma ratios were compared to a previously established range of normal fetal beta/gamma synthetic ratios obtained by similar measurements in pure fetal cells. In the erythroid cells of three fetuses from mothers with beta-thalassemia trait, the beta/gamma synthetic ratio was normal in two. The third had a beta/gamma ratio of 0.04 at 10 1/2 weeks, a 50% reduction, consistent with fetal beta-thalassemia trait. Two other fetuses, derived from parents both of whom had beta-thalassemia trait, were also studied. One had a beta/gamma ratio of 0.029 at 8 weeks, a 65% reduction, also consistent with beta-thalassemia trait. The cells of the other had a ratio of essentially zero at 11 weeks, highly suggestive of homozygous beta-thalassemia. Although further experience will be needed to distinguish the homozygous and heterozygous states reliably, it now appears that the beta-thalassemia gene is expressed in the first trimester. Therefore these data suggest that the antenatal diagnosis of beta-thalassemia is becoming an attainable goal.
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PMID:Expression of the beta-thalassemia gene in the first trimester fetus. 105 53

The frequency of PC allele for acid phosphatase in fourteen Sardinian villages correlates positively with the altitude and negatively with past malarial morbidity and GdMed prevalence. The susceptibility towards hemolytic favism in Sardinian males with G6PD deficiency is dependent on the erythrocyte acid phosphatase and thalassemia phenotypes. Thalassemia trait exerts a protective action only in subjects carrying PA allele for acid phosphatase. The data suggest that the gradient for malaria morbidity directly or indirectly, through interactions with thalassemia and G6PD polymorphisms, mediated by the habit of eating Vecia faba, may have had a significant role in determining the heterogeneous distribution of acid phosphatase polymorphism in Sardinia. Besides malaria, other environmental factors related with altitude seem to have been very important in shaping the present pattern of distribution of both acid phosphatase and G6PD polymorphisms in Sardinia.
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PMID:Red cell acid phosphatase: another polymorphism correlated with Malaria? 118 Mar 55


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