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 activities of orotate phosphoribosyl transferase (OPRT) and orotidine monophosphate decarboxylase (ODC) were significantly elevated (P less than 0.001) in erythrocytes (RBC) from five patients with prednisone-responsive congenital hypoplastic anaemia (CHA). (OPRT: patients - 10.1--64.2 nmol/h/10(9) RBC; controls - 2.8 +/- 0.3 (mean +/- SEM, n = 37); ODC: patients = 30--124 nmol/h/10(9) RBC; controls = 10.2 +/- 0.7 (mean SEM, n = 37).) Two patients had a less pronounced, but significant, increase of aspartate transcarbamylase activity and three patients had marginal increases of dihydroorotase activity. Dihydroorotate dehydrogenase activity was not detected in any CHA patient or control. In one patient prior to prednisone therapy, the OPRT and ODT activities were elevated 10-fold and remained elevated 3-fold after 16 months of therapy. An elevated enzyme pattern similar to that of RBC from CHA patients was observed in three parents of three CHA patients, but not in three parents of two other CHA patients. The activities of all five pyrimidine enzymes were normal for one patient with transient erythroblastopenia of childhood. In contrast, the activities of all the pyrimidine biosynthetic enzymes were elevated in blood from patients with a young RBC population: sickle cell anaemia, sickle-beta-thalassaemia, hereditary spherocytosis, and DiGuglielmo syndrome and from the newborn. It is postulated that factors which affect the activities of pyrimidine enzymes in CHA may also result in diminished erythropoiesis.
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PMID:Elevation of pyrimidine enzyme activities in the RBC of patients with congenital hypoplastic anaemia and their parents. 3 27

Lateral X-ray pictures of the skull in certain several and chronic disorders of the blood as thalassaemia, congenital haemolytic anaemia, sickle cell anaemia and iron deficiency disease show frequently changes of the outlines of the cranial bones. They consist of a double contour of the outer cranial border and on the interior side below the sagittal sutura of a band-like shadow or of multiple stripes and lines running parallel to the carnial vault. They concern the parietal bones and may extend from the bregma till to the lamda or occupy only a part of this distance. The roentgenological features are due to the enlargement of the crainal bones, the bulging out of both parietal bondes, the sometimes enlarged and deepened borders of the sulcus sagittalis superior and particularly to the furrow and depression on the skull above the sagittal suture caused by the protruding parietal bones on both sides. As these different abnormal structures must be passed by the picturing X-ray, effects of superposition and interference are produced. Longitudinal ridges or bony edges which could explain the roentgenological findings could not be established. Since the peculiar alterations of the cranial bones are mainly found in the mentioned blood disorders, where they are caused by the overgrowing red marrow, they also display the same roentgenological features. These features are, therefore, a characteristic sign of these diseases.
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PMID:[Double contours and companion shadows in the skull associated with anaemias (author's transl)]. 15 80

The prevalence of different haemoglobins and their interaction with malaria have been studied in Garki, Kano State, Nigeria. Sickle cell trait was present in 24% of newborn and 29% of those aged over five years. Hb.AC was present in 0.7%. Frequency of both haemoglobin variants was greater in Hausa than Fulani. Sickle cell anaemia was almost invariably fatal in early childhood. The distribution curve of percentage of Hb.S in sickle cell trait subjects was normal, and did not demonstrate any high frequency of a gene for alpha-thalassaemia. The presence of beta-thalassaemia minor could not be tested, but Hb.S/beta-thalassaemia was not detected. Hb.S gene frequency appears to have been maintained by a fitness in heterozygotes of 21% over normal homozygotes; increased fertility and high mutation rate did not make any apparent contribution. Hb.AS subjects had on average lower frequency and considerably lower densities of Plasmodium falciparum trophozoites than Hb.AA from the age of 30 to 59 weeks; density was less in sickle cell trait up to age three years in the dry season only. It is suggested that the survival advantage and hence the prevalence of sickle cell trait may be greatest in some hyperendemic areas and less where malaria transmission is extremely high or when it is high and unvaried.
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PMID:Abnormal haemoglobins in the Sudan savanna of Nigeria. I. Prevalence of haemoglobins and relationships between sickle cell trait, malaria and survival. 31 11

A further study of the Tgamma-chain in a variety of conditions has revealed its presence in the cord bloods of ethnic groups previously unstudied. Heterozygous newborn average 17-19% Tgamma-chain while the mean value in four presumed homozygotes was 31%. The Tgamma-chain is readily detectable in beta-thalassemia of various ethnic groups (although infrequent in Blacks) as well as in deltabeta-thalassemia. Studies of a few families have provided an opportunity to determine whether or not certain individuals are heterozygous or homozygous for the Tgamma-gene. The Tgamma-chain has not been detected in the human fetal hemoglobin that is synthesized in increased amounts in persons with the hereditary persistence of fetal hemoglobin. Although the Tgamma-chain is detectable in sickle cell anemia, its frequency appears to be lower than in normal individuals. By focusing upon the relationship of the percentage of Tgamma-chain to the sources of human fetal globulin from determinants in cis and in trans, the conclusion has been reached that the Tgamma-chain is the product of a mutant Agamma-locus which should be named the TAgamma-chain.
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PMID:Further studies of the frequency and significance of the Tgamma-chain of human fetal hemoglobin. 42 52

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

Chromatographic separation of labeled globin chains was performed in stroma-free hemolysates prepared from peripheral blood and bone marrow cells of 11 patients with beta O-thalassemia and 2 patients with sickle cell anemia. A small radioactivity peak, slightly preceding the beta-chain and more prominent in bone marrow cells, was often observed. This peak, which represents synthesis of non-globin proteins, did not exceed 5% of the radioactivity incorporated in the alpha-chain. It is concluded that contamination of the beta-chain with non-globin proteins undoubtedly occurs, but its extent is insufficient to explain the different synthetic ratios which have been repeatedly observed in peripheral blood and in bone marrow cells of patients with heterozygous beta-thalassemia.
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PMID:Globin synthesis in bone marrow cells of patients with sickle cell anemia and beta O-thalassemia: contamination of the beta-chain with non-globin proteins. 47 78

Five American black patients, ages 1 to 16 years, with the sickle cell anemia-alpha-thalassemia syndrome are described. Each patient had persistent microcytosis not explained by iron deficiency, and in each family the presence of alpha-thalassemia in combination with sickle cell trait was demonstrated in one of the parents. In one patient, in whom the diagnosis of sickle cell anemia was established at birth, an elevated level of Barts (gamma4) hemoglobin was also found. In these patients levels of alkali-resistant hemoglobin and reticulocyte counts were similar to those of sickle cell anemia patients of comparable age; however, stained smears of their peripheral blood rarely showed the presence of irreversibly sickled cells. No major ameliorative effect of the alpha-thalassemia on the clinical expression of the sickle cell disease of these patients was evident.
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PMID:Sickle cell syndromes. II. The sickle cell anemia-alpha-thalassemia syndrome. 63 12

A 15-yr-old black male with homozygous sickle cell disease was severely growth retarded and had a chronic hemolytic anemia requiring transfusions. Globin chain synthetic studies of both peripheral blood reticulocytes and bone marrow cells revealed a ratio of alpha to betas globin synthesis (alpha/betas ratio) of 0.5, indicating the presence of an alpha-thalassemia gene. Messenger RNA isolated from the bone marrow of the patient was translated in the wheat germ cell-free system, and the globin synthesized had an alpha/betas ratio of 0.7. The hemolysate prepared from incubated bone marrow cells was fractionated on a Sephadex G100 column. The results showed that there was a peak of radioactivity that eluted after the hemoglobin peak. When this pooled peak was analyzed by CMC chromatography, the alpha/betas ratio was 0.9. These globin intermediates, probably dimers, may have contributed to the hemolysis in this patient.
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PMID:Failure of the alpha-thalassemia gene to decrease the severity of sickle cell anemia. 64 21

Sickle cell anemia and other severe sickle cell disorders (hemoglobin SC and hemoglobin S-thalassemia) are known to complicate surgical procedures in susceptible patients. Although transfusions have been used preoperatively to increase the packed cell volume, we have recently used the method of partial exchange transfusion in the treatment of patients with these disorders in the preoperative period. Forty-two patients with significant sickle cell hemoglobinopathies underwent operative procedures on various surgical services. The goal was to obtain a hemoglobin A percentage of 40 or above in each case, and this required 480 to 1,150 c.c. of buffy coat poor washed red cells (mean 820 c.c.). The number of complications in the intraoperative and postoperative period in this study was compared to those found in the literature. There was a significant decrease in morbidity and mortality rates noted with the use of these transfusions. There appeared to be a great advantage on a cost-benefit ratio, as well as an improvement in the physiologic state of the patient. Although the results of this study show significant improvement over previous investigations, there are many facets unknown concerning the use of this modality under these and other conditions. Therefore, further investigation of this method and restriction of the method of Level III referral centers is advocated until enough patients have been studied to assess the long- and short-term complications of the procedure.
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PMID:Use of partial exchange transfusion preoperatively in patients with sickle cell hemoglobinopathies. 69 86

Foetoscopy consists of the introduction into the ovular cavity, at the beginning of the second trimester of pregnancy, of an optical device in order to be able to observe the foetus and the foetal surface of the placenta. It may be used to detect certain foetal malformations which are not seen by echography and to collect foetal red cells by direct puncture of a placental vein. Its major indication is the prenatal diagnosis of homozygous forms of haemoglobinopathies: sickle cell disease and beta-thalassaemia. It is a dangerous investigation which requires great experience and perfect organisation.
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PMID:[Foetoscopy (author's transl)]. 70 38


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