Beta Thalassemia
Deletion of the A gamma globin gene in G gamma delta beta thalassemia
... gamma-delta beta-thalassemia, a physical alteration in gamma-globin gene organization was detected by restriction enzyme ...delta beta-globin gene region into the gamma-globin gene region rather than ...
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Serum Antioxidant Levels in Children with Beta-Thalassemia Major
... Cu is present largely in the form of organic complexes, many of which are metalloproteins acting as enzymes. In our study serum Cu level was found to be significantly increased in patients when compared with controls ...
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Genotype–phenotype correlation among beta-thalassemia and beta-thalassemia/HbE disease in Thai children: predictable clinical spectrum using genotypic analysis
... causing beta-thalassemia along with a geno- type–phenotype correlation in a Thai pediatrics ...population. Beta-thalassemia/HbE is the major thalassemia problem in Thailand and can be ...
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Common Beta-Thalassemia Mutation and virological study of Beta -thalassemic patients. Review Article
... Beta-thalassemia is a group of inherited blood disorder characterize by compact or absent beta globin chain synthesis, resulting in chronic hemolytic anemia and unproductive ...
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Hematologic features of beta-globin gene mutation type (βo) with homozygous beta thalassemia
... with beta thalassemia minor usually do not have any symptoms (asymptomatic) and people often are una ware that they have the condition ...with thalassemia major usually come to medical attention ...
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Gene therapy by allele selection in a mouse model of beta thalassemia
... paternally (sperm-)derived genomes fail early in development due to the nonequivalence of parental genomes caused by genomic imprinting. However, these uniparental embryos develop to the blastocyst stage, allowing the ...
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Frequency of Celiac Disease in Children with Beta Thalassemia major
... with thalassemia never be considered as celiac disease ...in thalassemia major and celiac disease and recognition and treatment of celiac disease may improve survival of thalassemia ...with ...
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Globin synthesis in fractionated Normoblasts of beta thalassemia heterozygotes
... total beta chain production is higher in the early cells than in the later cells or that alpha chain production in the early cells is reduced to the level of beta chain ...the beta A/beta S ...
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Heterogeneity of DNA deletion in gamma delta beta thalassemia
... thalassemia. The deletion removes the linked epsilon, gamma-, and delta-globin structural genes and terminates within the coding portion of the beta-globin gene. Since the extent of DNA deletion in this ...
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Study on Clinical Profile of Beta Thalassemia Major Children
... This is to certify that this dissertation titled “STUDY ON CLINICAL PROFILE OF BETA THALASSEMIA MAJOR CHILDREN” submitted by DR.M.S.NISHA to the Tamilnadu DR. M.G.R medical university, Chennai in partial ...
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Characterization of molecular hemoglobin c and beta thalassemia
... Brazil, beta thalassemia has been studied, however, because of limitations such as lack of standardization of laboratory diagnostic methodologies; the large sample size, ethnic diversity, and the high ...
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Defect in messenger RNA for human hemoglobin synthesis in beta thalassemia
... homozygous beta thalassemia and sickle cell ...of beta thalassemia messenger RNA, the system synthesized much less beta chain than alpha chain whereas in the presence of sickle cell ...
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<p>Gene Therapy For Beta-Thalassemia: Updated Perspectives</p>
... On the other hand, the group of Sadelain, in the trial conducted in New York, made use of the TNS9.3.55 vector, 17 which was an incremental version of the proto- typical TNS9, and bore an uninsulated LCR with the wild- ...
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Differing erythrocyte membrane skeletal protein defects in alpha and beta thalassemia
... alpha thalassemia (HbH disease), in patients with beta thalassemia intermedia, and in normal ...and beta-thalassemic spectrin functions normally in spectrin self-association, binding to normal ...
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Identification of the multiple beta thalassemia mutations by denaturing gradient gel electrophoresis
... the beta-thalassemia mutations in the Chinese ...the beta-globin gene in four separate fragments and electrophoresing the amplified DNA in two gels, we were able to distinguish all the 12 known ...
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A distant gene deletion affects beta globin gene function in an atypical gamma delta beta thalassemia
... delta beta-thalassemia syndrome. Heterozygosity results in a beta-thalassemia phenotype with normal hemoglobin ...psi beta-, delta-, and beta-globin genes in cis remained ...the ...
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Posttranscriptional defects in beta globin messenger RNA metabolism in beta thalassemia: abnormal accumulation of beta messenger RNA precursor sequences
... the beta-mRNA ...the beta-globin gene, accumulation of large 3H beta-intron RNA and beta- globin [3H]mRNA was normal in nuclei, but the ratio of beta/alpha [3H]mRNA in cytoplasm was ...
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Hemoglobin Indianapolis (beta 112[G14] arginine) An unstable beta chain variant producing the phenotype of severe beta thalassemia
... labile beta-chain variant, present in such small amounts that it was undetectable by usual ...heterozygous beta-thalassemia, suggested that betaIndianapolis was destroyed so rapidly that its net ...
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Hemoglobin Mississippi (beta 44ser cys) Studies of the thalassemic phenotype in a mixed heterozygote with beta + thalassemia
... the beta +-thalassemia gene in our family had mild microcytic anemia, the proband with HbMS-beta +-thalassemia had a hemoglobin level of 7 g/dl, mean corpuscular volume (MCV) of 68 fl, ...
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Influence of hemoglobin precipitation on erythrocyte metabolism in alpha and beta thalassemia
... Certain aspects of the metabolism of centrifuged young and old erythrocytes in hemoglobin H disease have been examined and compared with similar studies of beta thalassemia and normal cells. Glycolysis, ...
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