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|Title:||An anemic patient with phenotypical β-thalassemic trait has elevated level of structurally normal β-globin mRNA in reticulocytes||Authors:||Lim, S.-K.
|Issue Date:||2000||Citation:||Lim, S.-K.,Ali, A.B.,Law, H.Y.,Ng, I.,Chung, M.M.,Lee, S.-H. (2000). An anemic patient with phenotypical β-thalassemic trait has elevated level of structurally normal β-globin mRNA in reticulocytes. American Journal of Hematology 65 (3) : 243-250. ScholarBank@NUS Repository. https://doi.org/10.1002/1096-8652(200011)65:33.0.CO;2-6||Abstract:||Of the numerous β-thalassemic mutations linked or unlinked to the β-globin gene, all invariably cause a decrease in or an absence of structurally normal β-globin mRNA when assayed. Here we report an anemic patient with an elevated α-/β globin synthesis ratio of 2.0 in his reticulocytes. The patient's blood film showed marked red cell anisopoikilocytosis, microcytosis, and hypochromia, consistent with a typical β-thalassemic trait phenotype. Acid-eluted erythrocytes contained numerous Heinz bodies. Molecular analysis of the patient's reticulocyte mRNA indicated that, compared to normal controls, there was a 3-fold elevation of β-globin mRNA when assayed by RT-PCR and a 1.5-fold elevation of β-globin mRNA when assayed by RNA slot blotting. The level of α-globin mRNA was normal when compared to that of normal adult controls. Extensive structural analysis of the β-globin mRNA and gene by sequencing of RT-PCR and PCR products, respectively, did not detect any mutations. Tryptic mapping of purified β-globin chains also did not show any abnormal tryptic fragments. These data indicated that a relative insufficiency of structurally normal β-globin mRNA was not a cause of this β-thalassemic phenotype. Therefore, the lesion that caused this particular thalassemic phenotype is not linked to the β-globin allele. (C) 2000 Wiley-Liss,Inc.||Source Title:||American Journal of Hematology||URI:||http://scholarbank.nus.edu.sg/handle/10635/112780||ISSN:||03618609||DOI:||10.1002/1096-8652(200011)65:33.0.CO;2-6|
|Appears in Collections:||Staff Publications|
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