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)

Red cell volume distribution width (RDW-CV) was examined as a means of diagnosing iron deficiency. Iron deficiency was classified as iron deficiency anaemia, prelatent or latent iron deficiency in 1648 students. MCV and RDW-CV (mean +/- ISD) in each group were 89 +/- 4 ft, 12.7 +/- 0.7% in normal individuals, 89 +/- 4 fl, 13.2 +/- 0.8% in prelatent deficiency, 86 +/- 6 fl, 14.0 +/- 1.5% in latent deficiency, and 79 +/- 7 fl, 15.6 +/- 1.7% in iron deficiency anaemia, respectively. Although microcytosis was evident only in iron deficiency anaemia, RDW-CV showed larger values concomitant with the development of iron deficiency. The sensitivity of RDW-CV for the diagnosis of iron deficiency anaemia was 77.1%, and for iron deficiency anaemia and latent deficiency 49.2%, the specificity being 90.6%. In countries with a high prevalence of iron deficiency and low thalassaemia, iron deficiency should be screened by RDW-CV determination without serum iron or ferritin measurements.
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PMID:Change in red blood cell distribution width with iron deficiency. 276 69

Patients with Hb SC disease were found to have microcytic and hyperchromic red cell indices despite mild reticulocytosis. Iron deficiency anemia was ruled out by the finding of normal serum ferritin levels. In order to determine whether the microcytosis was due to coexistent alpha-thalassemia, restriction endonuclease mapping was performed on genomic DNA extracted from peripheral blood leukocytes. Patients with Hb SC disease had microcytic indices despite the presence of a full complement of four alpha-genes (alpha alpha/alpha alpha), suggesting that the microcytosis may be due to cellular dehydration (or xerocytosis), since the mean corpuscular hemoglobin concentration in Hb SC disease patients was significantly higher than in controls. This possibility was investigated further by the determination of RBC cation content. RBC Na levels were similar in SC and normal red cells. Hb SC RBCs, however, had significantly reduced K levels. These findings show that RBC cation content, and thus cell water, is decreased in Hb SC disease. The decreased RBC K level in the presence of normal cellular Na concentration suggests selective K loss that is not due to inhibition of the Na K pump. Ouabain-insensitive K+ efflux was increased to four times normal in SC cells. Cell dehydration was confirmed by the demonstration of increased high-density RBCs on discontinuous Stractan density gradients and by osmotic gradient ektacytometry. Cellular dehydration and its sequelae were worse in CC erythrocytes and milder in AC cells than in Hb SC red cells. Taken together, these data indicate that in Hb SC disease the RBCs are severely dehydrated and typically microcytic and hyperchromic. Hb SC RBCs seem to be dehydrated due to selective K loss. These findings suggest a functional interrelationship between Hb SC, the red cell membrane, and cation regulation.
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PMID:The xerocytosis of Hb SC disease. 294 42

The use of automated analysers in population screening for beta-thalassaemia has been a matter of controversy. The new fully automated haematology analyser Sysmex E-5000 (Toa Medical Electronics Co. Ltd) facilitates the discrimination of heterozygous thalassaemia from iron deficiency anaemia. In addition to haemoglobin, mean corpuscular haemoglobin and mean corpuscular volume, the red cell size-distribution width is measured. In patients with hypochromic microcytic red cells, the Sysmex data have been evaluated and compared with the indices described by England and Fraser [Lancet i, pp. 449-452, 1973], Mentzer [Lancet i, p. 882, 1973] and by Shine and Lal [Lancet i, pp. 692-694, 1977]. For the detection of beta-thalassaemia trait, the size-distribution width is superior to the previously described indices. The sensitivity is 79%, the specificity 95% and the predictive value for a positive test 94%.
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PMID:Can automated haematology analysers discriminate thalassaemia from iron deficiency? 312 Apr 68

Blood, pH and bicarbonate were examined in 40 normal subjects and in 53 patients with anemia. Included were 28 patients with thalassemia, 18 with aplastic anemia and seven with iron deficiency anemia. Mean increases in pH of 0-0.04 and decreases in HCO3 of 2.3-3.5 mEq/L were observed. Changes were not significantly affected by the degree of erythropoiesis or by the severity of the anemia and were essentially the same in the three groups of patients studied. Typical changes of a mild, uncompensated alkalosis were also produced on four occasions in one transfused thalassemic patient.
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PMID:A mild uncompensated alkalosis in anemia. 312 64

A study was performed in 100 subjects to determine the prevalence and cause of anaemia in pregnant Indian women in the Johannesburg area. The geometric mean serum ferritin concentration in all three trimesters of pregnancy was below 12 micrograms/l, with 43.3% of women in the first, 48.6% in the second and 80.0% in the third trimester having concentrations below this value. Estimation of body iron stores revealed a mean deficit of 265 mg iron in subjects in the third trimester, 20% of whom had iron deficiency anaemia. No difference in iron status was demonstrable in subjects from different religious backgrounds. Folate and vitamin B12 nutrition was adequate. Three subjects were diagnosed as being beta-thalassaemia heterozygotes. The findings underline the need for routine iron supplementation of pregnant Indian women in the Johannesburg area.
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PMID:Anaemia in pregnant Indian women in Johannesburg. 326 57

Haemoglobin A2 (HbA2) levels were determined on 25 beta-thalassaemia carriers by the microcolumn method and were found to range from 4.5-7.2 per cent (mean 5.2 +/- 0.82 S.D.). The haemoglobin level (Hb), mean corpuscular volume (MCV), plasma ferritin and HbA2 levels were measured on a further 299 consecutive Chinese pregnant women at a gestation of less than 24 weeks. 18 patients (6 per cent) had HbA2 level greater than 4.5 per cent and were diagnosed to be beta-thalassaemic carriers. It was observed that all these patients had a MCV below 75 fl. If this level is selected in a screening procedure based on measurement of MCV alone all beta-thalassaemia carriers could be detected and 11 per cent of the population screened would require HbA2 estimation. At a lower cut-off level of 70 fl, 8 per cent of the population screened would require HbA2 measurement (a decrease of 27 per cent) but the detection rate will be lowered considerably (83 per cent). The high false positive rate at all cut-off levels of MCV was largely due to the prevalence of iron deficiency anaemia in the population. Estimation of plasma ferritin level in patients with low MCV will reduce this false positive rate, but there will be a considerable delay in diagnosis in patients with concomitant iron deficiency and beta-thalassaemia. The presence of iron deficiency in beta-thalassaemia carriers did not reduce their HbA2 level below the diagnostic range in this study.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Evaluation of a prenatal screening procedure for beta-thalassaemia carriers in a Chinese population based on the mean corpuscular volume (MCV). 397 23

The diagnostic potential of the combined use of zinc-protoporphyrin (ZPP), mean corpuscular volume (MCV) and haemoglobin measurements for discriminating between iron deficiency anaemia, beta-thalassaemia minor and lead poisoning has been studied. Lead poisoning could be identified by ZPP greater than 50 micrograms/dl in the presence of normal MCV or ZPP greater than 150 micrograms/dl in the presence of microcytosis (MCV less than 80 fl) with a sensitivity of 97% and specificity 94%. Beta-thalassaemia minor was identified by the coexistence of microcytosis and ZPP less than 50 micrograms/dl with a sensitivity of 91% and specificity 79%. Iron deficiency anaemia defined by the combination of microcytosis and ZPP ranging from 50 to 150 micrograms/dl was identified with a sensitivity of 95%, but the specificity was only 51%, with many of the patients overlapping with thalassaemia minor. This problem did not exist in iron-deficiency anaemia with haemoglobin less than 10 g/dl as at that range no patients with uncomplicated thalassaemia minor have been encountered. A great advantage of the combined use of ZPP, MCV and haemoglobin for the initial screening of microcytic anaemia is its ease of performance and low cost. However, this information should only be regarded as presumptive evidence of disease, requiring subsequent confirmation by appropriate direct measurements such as transferrin saturation, serum ferritin, haemoglobin electrophoresis, or blood lead determinations.
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PMID:Combined use of zinc protoporphyrin (ZPP), mean corpuscular volume and haemoglobin measurements for classifying microcytic RBC disorders in children and young adults. 407 41

The thalassemia syndromes are an important group of diseases in childhood, frequently encountered in many ethnic groups worldwide. Heterozygotes are frequently misdiagnosed as having iron deficiency anemia, and the more severely affected homozygotes present major problems in management. Advances in prenatal diagnosis offer hope for prevention, while progress in transfusion therapy, accuracy of prediction of value of splenectomy, and chelation therapy offer improved quality and, perhaps, duration of life.
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PMID:Clinical features of thalassemia. 615 56

Among 990 young male adolescents studied, only 7 were anemic. Three of the anemics had beta-thalassemia trait and 4 had probable alpha-thalassemia trait. Forty-six individuals with hemoglobinopathies were detected: 29 with probable alpha-thalassemia trait, 10 with beta-thalassemia trait and 7 with heterozygous HbE. Heterozygous alpha and beta-thalassemia occurred predominantly in Chinese while heterozygous HbE was found entirely in Malays. There were no cases of established iron deficiency anemia and only 1 had iron deficient erythropoiesis. Folate deficiency occurred only in 8 subjects with thalassemia traits, and no vitamin B12 deficiency was detected.
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PMID:Anemia in male adolescents in Singapore. 620 55

The shape of the head is often markedly changed in certain anaemic disorders, e.g. thalassaemia, congenital haemolytic anaemia and severe juvenile iron deficiency anaemia. However, this does not affect the basic structure of the skull and its characteristics. Rather, there is a strong thickening of the cranial bones; careful examination shows a deformation of the bones and skull cap. These changes are due to the overgrowing red marrow, which occurs in the same manner in anaemics although the origin of their disease is of course an entirely different one.
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PMID:[Deformity of the skull vault due to hypertrophy of red marrow in cases of anaemia ]. 621 72


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