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

The haematological indices of cord bloods from 430 South African Negro babies were determined by electronic cell counting and their haemoglobin (Hb) patterns examined by alkaline cellulose acetate electrophoresis. A fast-moving, anodal band, identified as Hb Bart's, was found in 7 (1,6%) of the specimens, this being the lowest incidence of the variant yet found in an indigenous African population. The levels of Hb Bart's ranged from 1.3 to 5.5% of the haemoglobin. These findings were confirmed by alkaline-starch gel electrophoresis and at the same time absence of the slow-moving haemoglobin, Hb Constant Spring was established. Subsequent follow-up of 4 of the infants at 4 months of postnatal life showed that the abnormal component had disappeared. The babies with Hb Bart's had a marked microcytosis and low mean corpuscular haemoglobin levels whilst their parents showed no haematological or electrophoretic signs of alpha-thalassaemia. The significance of these findings is discussed in the light of previously reported studies on various Negro groups.
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PMID:Hb Bart's and its significance in the South African Negro. 10 38

Mass screening in the Geok-chai region of Azerbaijan covered 264 persons. 2 families with abnormal hemoglbin were detected. Electrophoresis in PAG and on cellulose acetate films as well as sickling test showed that in 3 out of 9 members of one of the families HbS was detected. 6 out of 8 members of the others family appeared to be HbD-carriers. In 4 members of this family abnormal hemoglobin was found out in combination with G-6-PDH deficiency. No clinical manifestations were found. A number of beta-thalassemia cases were detected in screened children as well as in adults. Hemoglobin oxygen equilibrium curves were studied in patients with heterozygous beta-thalassemia. In case of G-6-PDH deficiency when it is not possible to obtain active enzyme zones on the columns with PAG these zones can be detected when CoCl2 (2 mM) is added into the incubation medium.
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PMID:Hemoglobinopathies and glucose-6-phosphate dehydrogenase deficiency in one of the regions of Azerbaijan: mass screening and laboratory investigations. 14 87

Using both starch gel and cellulose-acetate electrophoresis is screening procedures, haemoglobin (Hb) Barts was detected in 11.08% of 325 cord blood samples from newborn Tanzanians. Red cell studies in these and in normals and a search for inclusion bodies of Hb H did not suggest alpha-thalassaemia. The mothers of these babies do not show any evidence of alpha-thalassaemia. It is suggested that the presence of Hb Barts in samples of cord blood is not due to the presence of alpha-thalassaemia in the Tanzanian population.
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PMID:Haemoglobin Barts in newborn Tanzanians. 21 17

Using a method involving elution of hemoglobin bands from cellulose acetate strips following electrophoresis of hemolysates, hemoglobin A2 (Ab A2) was quantitated in bloods from 300 healthy individuals and 904 patients. The percentage of Hb A2 was elevated in beta-thalassemia heterozygotes and some patients who had megaloblastic anemia. In the latter, the highest Hb A2 levels were observed in patients with the most severe anemia. Low Hb A2 percentages were found in iron-deficiency anemia, hereditary persistance of fetal hemoglobin, and Hb H disease. In iron-deficiency anemia, the lowest levels of Hb A2 were observed in association with the most severe anemia. Iron and folate deficiency each suppressed Hb A2 levels in beta-thalassemia heterozygotes; however, vitamin B12 deficiency did not alter the percentage of Hb A2 in thalassemia. Malignant tumors, renal and hepatic insufficiency, chronic infections and inflammation, hemolytic disease, lead poisoning, aplastic anemia, leukemia, myelofibrosis, and hypothyroidism did not change Hb A2 levels. The pathogenesis of altered Hb A2 levels and their clinical significance in various diseases are discussed.
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PMID:Hemoglobin A2 levels in health and various hematologic disorders. 26 35

Many mutant hemoglobins and hemoglobinopathies can be identified with a high degree of specificity in the routine clinical laboratory. The most frequent abnormalities--those involving Hb S or C--are usually easily detectable in small amounts of sample analyzed by two simple methods of electrophoresis: cellulose acetate at pH 8.5 and citrate agar at pH 6. Some rarer mutants, e.g., Hb O, Hope, and Camden, can also be recognized by these two methods. Presumptive identification of other relatively frequent mutants, such as Hb D Los Angeles (Punjab) and Hb G Philadelphia, can be accomplished with additional data obtained from globin electrophoresis on cellulose acetate in acidic and alkaline buffers containing urea and 2-mercaptoethanol (or dithioerythritol). Electrophoretic profiles are presented of about a dozen hemoglobins likely to be encountered in screening programs in the U.S. Methods are also presented for identifying other genetic hemoglobin abnormalities--various types of thalassemia, Hb M, unstable hemoglobins, and those of the newborn.
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PMID:Methods for detection of hemoglobin variants and hemoglobinopathies in the routine clinical laboratory. 40 71

Plasma tocopherol levels of less than 0.8 microgram/g lipid were considered indicative of a vitamin E-deficient status. Based on this criterion, 10 out of 13 sickle cell anemia patients who were not in crisis, were considered deficient in vitamin E as compared to none of 24 normal control subjects. Sickle cell anemia patients treated with 150 IU vitamin E (dl-alpha-tocopheryl acetate) three times a day for 1 to 2 months had plasma tocopherol levels similar to control subjects. The possible role of vitamin E status on the manifestation of sickle cell anemia is discussed. The present study confirmed the vitamin E-deficient status of subjects with beta-thalassemia. Six of seven patients with beta-thalassemia had tocopherol levels of less than 0.8 mg/g lipid.
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PMID:Plasma levels of tocopherol in sickle cell anemia subjects. 45 51

Microcolumn chromatography and a new test tube method for quantitation of hemoglobin A2 were compared with column chromatography on DEAE-Sephadex, starch block and cellulose acetate electrophoresis to ascertain their relative accuracy, precision, reproducibility and speed. One hundred seventy-four blood specimens, including 90 samples from genetically proven beta-thalassemia heterozygotes were examined. The mean Hb A2 values in normal and beta-thalassemia heterozygotes were: 2.3% and 4.7%, respectively, determined by microcolumn chromatography; 2.3% and 4.9%, respectively, determined by a new test tube method; 2.5 and 4.6%, respectively, determined by column chromatography on DEAE-Sephadex; 2.6% and 4.8%, respectively, determined by starch block electrophoresis; and 2.4% and 4.8%, respectively, determined by cellulose acetate electrophoresis. Although all five methods were found to be reliable and reproducible, the microcolumn chromatographic method and the newly developed test tube method using DE-52 cellulose are the most rapid, reproducible, economical, and well suited for large scale surveys. By microcolumn chromatography, 7,953 school children and 2,710 other cases were screened for the quantity of Hb A2. In these samples, 578 beta-thalassemia heterozygotes were detected.
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PMID:An evaluation of the methods for quantitation of hemoglobin A2: results from a survey of 10,663 cases. 60 18

An improved method for the estimation of haemoglobin A2, at the same time precise, simple and cheap, is proposed. Haemoglobin A is separated from haemoglobin A2 by electrophoresis on Cellogel in discontinuous buffer at alkaline pH. The strips of cellulose acetate containing the haemoglobin fractions are completely dissolved in 80% acetic acid. The percentage of haemoglobin A2 present in each sample is calculated from the values for the spectrophotometric absorbance at 396 nm. The average percentage of haemoglobin A2 (+/- standard deviation) determined by this method was 2.31 +/- 0.37 in 51 normal subjects, and 4.64 +/- 0.53 in 29 subjects with heterozygous beta-thalassaemia.
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PMID:Standardization of a simple method for the estimation of haemoglobin A2. 65 35

In order to determine if mutant hemoglobins can be identified by relatively simple methods, a Working Group of the ICSH Expert Panel on Abnormal Hemoglobins and Thalassemia analyzed 17 hemolysates containing 14 different mutant hemoglobins by four electrophoretic methods: (1) cellulose acetate in alkaline buffers, (2) citrate agar pH 6.0, (3) urea 2-mercaptoethanol buffer pH 8.9, and (4) urea 2-mercaptoethanol buffer pH 6.0. The examined mutants included several of great numerical and clinical importance as well as some rare ones, namely, HbS, C, D Los Angeles (Punjab), E, G Philadelphia, N Baltimore, and O Arab; also Hb Ft. Worth, Montgomery, Winnepeg, Rush, Q India, Bethesda, and Lepore. Comparative mobilities of these hemoglobins in all of the methods are presented here. The combined data permit their presumptive identification, often with a high degree of specificity. The system has been applied in Iran, where the four prevalent mutants can be differentiated by these methods, at considerable saving of time and resources previously expended on structural analyses. It is proposed as a basis for an ICSH Tentative Standard. There is little doubt that this presumptive identification of hemoglobin variants by simple electrophoresis will be improved or complemented by the introduction of newer techniques, such as immunologic analysis. However, for the present and for some time to come, the system outlined here should be found valuable. The present report does not concern itself with the numerous auxiliary techniques involved in the identification of abnormal hemoglobins-sickle-cell test, solubility tests, lability test--and no claim is made that the simple system described here eliminates these other techniques from the diagnostic armamentarium of the laboratory.
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PMID:Simple electrophoretic system for presumptive identification of abnormal hemoglobins. By the International Committee for Standardization in Hematology. 69 90

In a cooperative intrastate program based upon experience with sickle-cell anemia screening, the authors explored the feasibility of applying hemoglobin electrophoresis for detection of beta-thalassemia gene carriers. Initially, blood samples collected in capillary tubes were analyzed by cellulose acetate electrophoresis with densitometric quantitation of hemoglobin A2 (Hb A2), followed by selective spectrophotometric quantitation. This approach proved insufficiently specific or reproducible. Follow-up hematologic and family studies of presumptive beta-thalassemia gene carriers indicated that coordinate measurement of erythrocytic indices and Hb A2 values would have discriminated a subpopulation with a high incidence of beta-thalassemia trait more specifically. This approach was tested prospectively by the use of 731 venous blood samples collected in a county with a large population of Mediterranean ancestry. Of 31 individuals (4.2%) with presumptive thalassemia trait, 13 returned for a repeat testing, and the initial results for 11 were confirmed. These findings lend support to an empirical screening sequence suggested by Pearson (erythrocytic indices followed by Hb A2 quantitation), but they also indicate that a significant subpopulation of beta-thalassemia gene carriers with limited phenotypic expression may elude detection in any single-pass approach.
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PMID:Population screening for beta-thalassemia minor. Report of cooperative trials based on two approaches. 72 71


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