Factors regulating Hb F synthesis in thalassemic diseases

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Factors regulating Hb F synthesis in thalassemic diseases

BACKGROUND: The thalassemic syndromes originate from mutations of the globin genes that cause, besides the characteristic clinical picture, also an increased Hb F amount. It is not yet clear if there are more factors, besides the beta globin genotype, determining the Hb F production. We have tried to find out if there are relations between total Hb and Hb F, between erythropoietin (Epo) and Hb ...

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Transient neonatal cyanosis associated with a new Hb F variant: Hb F viseu.

Neonatal cyanosis in healthy newborns can be associated either with methemoglobin due to cytochrome b5 reductase deficiency or to M-hemoglobin, a group of hemoglobin variants resulting from mutations in the globin chain genes. We report the clinical case of a neonate with cyanosis and normal cardiac and respiratory function. At birth the hematological parameters were normal; however, the methem...

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Genetic Factors Influencing Hemoglobin F Level in Β-thalassemia/hb E Disease.

Genetic factors influencing Hb F content in adult red blood cells include β-thalassemia genotypes, co-inheritance of α-thalassemia traits and single nucleotide polymorphisms (SNPs). Genotyping of α- and β-thalassemia and five SNPs in β-globin gene cluster previously identified in genome-wide association studies as being markers of elevated Hb F in β-thalassemia were performed in 81 subjects dia...

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Translational control of hemoglobin synthesis in thalassemic bone marrow.

Previous studies of beta-thalassemic reticulocytes have implied a decreased amount of functional beta-mRNA but unimpaired translation of the beta-mRNA present. However, the beta/alpha synthetic ratios in beta-thalassemic marrow are higher than those observed in reticulocytes of the same patients. This could imply that marrow cells contain an abnormally functioning beta-mRNA no longer active in ...

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Posttranscriptional maturation of the 3' end of eukaryotic pre-mRNAs occurs as a three-step pathway involving site-specific cleavage, polymerization of a poly(A) tail, and trimming of the newly synthesized tail to its mature length. While most of the factors essential for catalyzing these reactions have been identified, those that regulate them remain to be characterized. Previously, we demonst...

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ژورنال

عنوان ژورنال: BMC Hematology

سال: 2002

ISSN: 2052-1839

DOI: 10.1186/1471-2326-2-2